{ "uniprot_canonical_ac": "O60481-1", "uniprot_ac": "O60481", "uniprot_id": "ZIC3_HUMAN", "mass": { "chemical_mass": 50569.0, "monoisotopic_mass": 50569.0 }, "refseq": { "ac": "NP_001317590", "name": "zinc finger protein ZIC 3 isoform 2", "summary": "This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317590" }, "gene_names": [ { "name": "ZIC3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60481", "id": "O60481" }, { "name": "HTX; HTX1; VACTERLX; ZNF203", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317590", "id": "NP_001317590" }, { "name": "ZIC3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317590", "id": "NP_001317590" }, { "name": "ZNF203", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60481", "id": "O60481" } ], "protein_names": [ { "name": "Zinc finger protein ZIC 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60481" }, { "name": "Zic family member 3 (odd-paired homolog, Drosophila); zinc finger protein ZIC 3; heterotaxy 1; zinc finger protein of the cerebellum 3; zinc finger protein 203", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317590", "id": "NP_001317590" }, { "name": "Zinc finger protein 203", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60481" }, { "name": "Zinc finger protein of the cerebellum 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60481" }, { "name": "zinc finger protein ZIC 3 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317590", "id": "NP_001317590" } ], "function": [ { "annotation": "A novel ZIC3 mutation in a Chinese family with heterotaxy and multiple types of congenital heart defect.", "evidence": [ { "database": "RefSeq", "id": "NP_001317590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317590" }, { "database": "PubMed", "id": "36567274", "url": "https://glygen.org/publication/PubMed/36567274" } ] }, { "annotation": "Acts as a transcriptional activator. Required in the earliest stages in both axial midline development and left-right (LR) asymmetry specification. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'.", "evidence": [ { "database": "UniProtKB", "id": "O60481", "url": "https://www.uniprot.org/uniprot/O60481#function" }, { "database": "PubMed", "id": "17764085", "url": "https://glygen.org/publication/PubMed/17764085" } ] }, { "annotation": "Data show that transcript, termed Zic3-B, encompasses exons 1, 2, and 4 whereas Zic3-A encompasses exons 1, 2, and 3.", "evidence": [ { "database": "RefSeq", "id": "NP_001317590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317590" }, { "database": "PubMed", "id": "21858219", "url": "https://glygen.org/publication/PubMed/21858219" } ] }, { "annotation": "Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3.", "evidence": [ { "database": "RefSeq", "id": "NP_001317590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317590" }, { "database": "PubMed", "id": "32639022", "url": "https://glygen.org/publication/PubMed/32639022" } ] }, { "annotation": "MiR-155-5p inhibits the viability of vascular smooth muscle cell via targeting FOS and ZIC3 to promote aneurysm formation", "evidence": [ { "database": "RefSeq", "id": "NP_001317590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317590" }, { "database": "PubMed", "id": "30898623", "url": "https://glygen.org/publication/PubMed/30898623" } ] }, { "annotation": "This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001317590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317590" } ] }, { "annotation": "This study characterized cis-regulatory elements required for Zic3 expression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001317590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317590" }, { "database": "PubMed", "id": "30297839", "url": "https://glygen.org/publication/PubMed/30297839" } ] }, { "annotation": "Zic family member 3 attenuates oxidative stress-induced vascular smooth muscle cell apoptosis in patients with chronic kidney disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001317590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317590" }, { "database": "PubMed", "id": "38091851", "url": "https://glygen.org/publication/PubMed/38091851" } ] } ], "disease": [ { "disease_id": "DOID:0050545", "recommended_name": { "id": "DOID:0050545", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050545", "name": "visceral heterotaxy", "description": "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen." }, "synonyms": [ { "id": "DOID:0050545", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050545", "name": "heterotaxia", "description": "" }, { "id": "DOID:0050545", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050545", "name": "situs ambiguus", "description": "" }, { "id": "MONDO:0011546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011546", "name": "heterotaxy, visceral, 2, autosomal", "description": "" }, { "id": "MONDO:0011546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011546", "name": "DTGA2", "description": "" }, { "id": "MONDO:0011546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011546", "name": "heterotaxy, visceral, 2, autosomal", "description": "" }, { "id": "MONDO:0011546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011546", "name": "transposition of the great arteries, dextro-looped 2", "description": "" }, { "id": "MONDO:0011546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011546", "name": "HTX2", "description": "" }, { "id": "MONDO:0011546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011546", "name": "Htx", "description": "" }, { "id": "MONDO:0011659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011659", "name": "heterotaxy, visceral, 3, autosomal", "description": "" }, { "id": "MONDO:0011659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011659", "name": "HTX3", "description": "" }, { "id": "MONDO:0011659", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011659", "name": "heterotaxy, visceral, 3, autosomal", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "heterotaxy, visceral, 1, X-linked", "description": "X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia." }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "ZIC3 visceral heterotaxy", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "heterotaxy, visceral, 1, X-linked", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "heterotaxy, visceral, 1, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "visceral heterotaxy caused by mutation in ZIC3", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "HTX1", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "X-linked visceral heterotaxy 1", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "congenital heart defects, multiple types, 1, X-linked", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "dextrocardia with Other Cardiac malformations", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "heterotaxy, visceral, X-linked", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "laterality, X-linked", "description": "" }, { "id": "MONDO:0010607", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010607", "name": "situs inversus, Complex Cardiac defects, and splenic defects, X-linked", "description": "" }, { "id": "MONDO:0013887", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013887", "name": "heterotaxy, visceral, 6, autosomal", "description": "" }, { "id": "MONDO:0013887", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013887", "name": "heterotaxy, visceral, 6, autosomal", "description": "" }, { "id": "MONDO:0013887", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013887", "name": "heterotaxy, visceral, 6, autosomal recessive", "description": "" }, { "id": "MONDO:0013887", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013887", "name": "HTX6", "description": "" }, { "id": "MONDO:0013403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013403", "name": "heterotaxy, visceral, 4, autosomal", "description": "Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene." }, { "id": "MONDO:0013403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013403", "name": "ACVR2B visceral heterotaxy", "description": "" }, { "id": "MONDO:0013403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013403", "name": "heterotaxy, visceral, 4, autosomal", "description": "" }, { "id": "MONDO:0013403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013403", "name": "visceral heterotaxy caused by mutation in ACVR2B", "description": "" }, { "id": "MONDO:0013403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013403", "name": "HTX4", "description": "" }, { "id": "MIM:605376", "resource": "MIM", "url": "https://www.omim.org/entry/605376", "name": "Heterotaxy, visceral, 2, autosomal", "description": "Heterotaxy, visceral, 2, autosomal" }, { "id": "MIM:306955", "resource": "MIM", "url": "https://www.omim.org/entry/306955", "name": "Heterotaxy, visceral, 1, X-linked", "description": "Heterotaxy, visceral, 1, X-linked" }, { "id": "MIM:614779", "resource": "MIM", "url": "https://www.omim.org/entry/614779", "name": "Heterotaxy, visceral, 6, autosomal", "description": "Heterotaxy, visceral, 6, autosomal" }, { "id": "MIM:613751", "resource": "MIM", "url": "https://www.omim.org/entry/613751", "name": "Heterotaxy, visceral, 4, autosomal", "description": "Heterotaxy, visceral, 4, autosomal" } ], "evidence": [ { "id": "306955", "database": "MIM", "url": "https://www.omim.org/entry/306955" } ] }, { "disease_id": "DOID:0111766", "recommended_name": { "id": "DOID:0111766", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111766", "name": "X-linked VACTERL association", "description": "A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2." }, "synonyms": [ { "id": "DOID:0111766", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111766", "name": "VACTERLX", "description": "" }, { "id": "DOID:0111766", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111766", "name": "VACTERL association, X-linked with or without hydrocephalus", "description": "" }, { "id": "MONDO:0010752", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010752", "name": "VACTERL association, X-linked, with or without hydrocephalus", "description": "" }, { "id": "MONDO:0010752", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010752", "name": "VACTERL association, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010752", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010752", "name": "VACTERL association, X-linked, with or without hydrocephalus", "description": "" }, { "id": "MONDO:0010752", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010752", "name": "VACTERL association with hydrocephaly, X-linked", "description": "" }, { "id": "MONDO:0010752", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010752", "name": "VACTERL-H, X-linked", "description": "" }, { "id": "MONDO:0010752", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010752", "name": "VACTERLX", "description": "" }, { "id": "MONDO:0010752", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010752", "name": "X-linked VACTERL-H syndrome", "description": "" }, { "id": "MIM:314390", "resource": "MIM", "url": "https://www.omim.org/entry/314390", "name": "VACTERL association X-linked with or without hydrocephalus", "description": "VACTERL association X-linked with or without hydrocephalus" } ], "evidence": [ { "id": "314390", "database": "MIM", "url": "https://www.omim.org/entry/314390" } ] } ], "snv": [ { "evidence": [ { "id": "O60481", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60481" } ], "glycoeffect": [], "start_pos": 341, "end_pos": 341, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "X", "chr_pos": "137567713", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R341", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60481" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ 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[ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "11751684", "url": "https://glygen.org/publication/PubMed/11751684" } ] }, { "title": "LIF-induced STAT3 signaling in murine versus human embryonal carcinoma (EC) cells.", "journal": "Experimental cell research", "date": "2002", "authors": "Schuringa JJ, van der Schaaf S, Vellenga E, Eggen BJ, Kruijer W", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "11855863", "url": "https://glygen.org/publication/PubMed/11855863" } ] }, { "title": "SALL1 expression in the human pituitary-adrenal/gonadal axis.", "journal": "The Journal of endocrinology", "date": "2002", "authors": "Ma Y, Chai L, Cortez SC, Stopa EG, Steinhoff MM, Ford D, Morgan J, Maizel AL", "evidence": [ { "database": "Reactome", "id": 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"id": "O60481", "url": "https://www.uniprot.org/uniprot/O60481" }, { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "14681828", "url": "https://glygen.org/publication/PubMed/14681828" } ] }, { "title": "The transcriptome profile of human embryonic stem cells as defined by SAGE.", "journal": "Stem cells (Dayton, Ohio)", "date": "2004", "authors": "Richards M, Tan SP, Tan JH, Chan WK, Bongso A", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "14688391", "url": "https://glygen.org/publication/PubMed/14688391" } ] }, { "title": "Identification, cloning and expression analysis of the pluripotency promoting Nanog genes in mouse and human.", "journal": "Developmental dynamics : an official publication of the American Association of Anatomists", "date": "2004", "authors": "Hart AH, Hartley L, Ibrahim M, Robb L", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "15108323", "url": "https://glygen.org/publication/PubMed/15108323" } ] }, { "title": "Maintenance of pluripotency in human embryonic stem cells is STAT3 independent.", "journal": "Stem cells (Dayton, Ohio)", "date": "2004", "authors": "Humphrey RK, Beattie GM, Lopez AD, Bucay N, King CC, Firpo MT, Rose-John S, Hayek A", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "15277698", "url": "https://glygen.org/publication/PubMed/15277698" } ] }, { "title": "Specific knockdown of Oct4 and beta2-microglobulin expression by RNA interference in human embryonic stem cells and embryonic carcinoma cells.", "journal": "Stem cells (Dayton, Ohio)", "date": "2004", "authors": "Matin MM, Walsh JR, Gokhale PJ, Draper JS, Bahrami AR, Morton I, Moore HD, Andrews PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "15342930", "url": "https://glygen.org/publication/PubMed/15342930" } ] }, { "title": "LIF/STAT3 signaling fails to maintain self-renewal of human embryonic stem cells.", "journal": "Stem cells (Dayton, Ohio)", "date": "2004", "authors": "Daheron L, Opitz SL, Zaehres H, Lensch MW, Andrews PW, Itskovitz-Eldor J, Daley GQ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "15342941", "url": "https://glygen.org/publication/PubMed/15342941" } ] }, { "title": "Comparative transcriptional profiling of two human embryonic stem cell lines.", "journal": "Biotechnology and bioengineering", "date": "2004", "authors": "Rao RR, Calhoun JD, Qin X, Rekaya R, Clark JK, Stice SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "15493035", "url": "https://glygen.org/publication/PubMed/15493035" } ] }, { "title": "Oct4 expression in adult human stem cells: evidence in support of the stem cell theory of carcinogenesis.", "journal": "Carcinogenesis", "date": "2005", "authors": "Tai MH, Chang CC, Kiupel M, Webster JD, Olson LK, Trosko JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "15513931", "url": "https://glygen.org/publication/PubMed/15513931" } ] }, { "title": "Pluripotential competence of cells associated with Nanog activity.", "journal": "Mechanisms of development", "date": "2005", "authors": "Hatano SY, Tada M, Kimura H, Yamaguchi S, Kono T, Nakano T, Suemori H, Nakatsuji N, Tada T", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "15582778", "url": "https://glygen.org/publication/PubMed/15582778" } ] }, { "title": "Stably transfected human embryonic stem cell clones express OCT4-specific green fluorescent protein and maintain self-renewal and pluripotency.", "journal": "Stem cells (Dayton, Ohio)", "date": "2005", "authors": "Gerrard L, Zhao D, Clark AJ, Cui W", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "15625129", "url": "https://glygen.org/publication/PubMed/15625129" } ] }, { "title": "Oct-4 mRNA and protein expression during human preimplantation development.", "journal": "Molecular human reproduction", "date": "2005", "authors": "Cauffman G, Van de Velde H, Liebaers I, Van Steirteghem A", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "15695770", "url": "https://glygen.org/publication/PubMed/15695770" } ] }, { "title": "Octamer and Sox elements are required for transcriptional cis regulation of Nanog gene expression.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Kuroda T, Tada M, Kubota H, Kimura H, Hatano SY, Suemori H, Nakatsuji N, Tada T", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "15743839", "url": "https://glygen.org/publication/PubMed/15743839" } ] }, { "title": "Transcriptional regulation of nanog by OCT4 and SOX2.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Rodda DJ, Chew JL, Lim LH, Loh YH, Wang B, Ng HH, Robson P", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "15860457", "url": "https://glygen.org/publication/PubMed/15860457" } ] }, { "title": "Expression and potential role of fibroblast growth factor 2 and its receptors in human embryonic stem cells.", "journal": "Stem cells (Dayton, Ohio)", "date": "2005", "authors": "Dvorak P, Dvorakova D, Koskova S, Vodinska M, Najvirtova M, Krekac D, Hampl A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "15955829", "url": "https://glygen.org/publication/PubMed/15955829" } ] }, { "title": "Downregulation of NANOG induces differentiation of human embryonic stem cells to extraembryonic lineages.", "journal": "Stem cells (Dayton, Ohio)", "date": "2005", "authors": "Hyslop L, Stojkovic M, Armstrong L, Walter T, Stojkovic P, Przyborski S, Herbert M, Murdoch A, Strachan T, Lako M", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "15983365", "url": "https://glygen.org/publication/PubMed/15983365" } ] }, { "title": "Reciprocal transcriptional regulation of Pou5f1 and Sox2 via the Oct4/Sox2 complex in embryonic stem cells.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Chew JL, Loh YH, Zhang W, Chen X, Tam WL, Yeap LS, Li P, Ang YS, Lim B, Robson P, Ng HH", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "15988017", "url": "https://glygen.org/publication/PubMed/15988017" } ] }, { "title": "Core transcriptional regulatory circuitry in human embryonic stem cells.", "journal": "Cell", "date": "2005", "authors": "Boyer LA, Lee TI, Cole MF, Johnstone SE, Levine SS, Zucker JP, Guenther MG, Kumar RM, Murray HL, Jenner RG, Gifford DK, Melton DA, Jaenisch R, Young RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "16153702", "url": "https://glygen.org/publication/PubMed/16153702" } ] }, { "title": "Zic3 is critical for early embryonic patterning during gastrulation.", "journal": "Developmental dynamics : an official publication of the American Association of Anatomists", "date": "2006", "authors": "Ware SM, Harutyunyan KG, Belmont JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "16397896", "url": "https://glygen.org/publication/PubMed/16397896" } ] }, { "title": "Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Chai L, Yang J, Di C, Cui W, Kawakami K, Lai R, Ma Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "16670092", "url": "https://glygen.org/publication/PubMed/16670092" } ] }, { "title": "Comparisons between transcriptional regulation and RNA expression in human embryonic stem cell lines.", "journal": "Stem cells and development", "date": "2006", "authors": "Player A, Wang Y, Bhattacharya B, Rao M, Puri RK, Kawasaki ES", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "16846370", "url": "https://glygen.org/publication/PubMed/16846370" } ] }, { "title": "Expression profile of Eph receptors and ephrin ligands in human skin and downregulation of EphA1 in nonmelanoma skin cancer.", "journal": "Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc", "date": "2006", "authors": "Hafner C, Becker B, Landthaler M, Vogt T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "16862074", "url": "https://glygen.org/publication/PubMed/16862074" } ] }, { "title": "Germ cell nuclear factor is a repressor of CRIPTO-1 and CRIPTO-3.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Hentschke M, Kurth I, Borgmeyer U, Hubner CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "16954206", "url": "https://glygen.org/publication/PubMed/16954206" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "O60481", "url": "https://www.uniprot.org/uniprot/O60481" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Characterization and gene expression profiling of five new human embryonic stem cell lines derived in Taiwan.", "journal": "Stem cells and development", "date": "2006", "authors": "Li SS, Liu YH, Tseng CN, Chung TL, Lee TY, Singh S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "16978057", "url": "https://glygen.org/publication/PubMed/16978057" } ] }, { "title": "Analysis of Oct4-dependent transcriptional networks regulating self-renewal and pluripotency in human embryonic stem cells.", "journal": "Stem cells (Dayton, Ohio)", "date": "2007", "authors": "Babaie Y, Herwig R, Greber B, Brink TC, Wruck W, Groth D, Lehrach H, Burdon T, Adjaye J", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "17068183", "url": "https://glygen.org/publication/PubMed/17068183" } ] }, { "title": "Differential expression of epidermal growth factor-related proteins in human colorectal tumors.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1991", "authors": "Ciardiello F, Kim N, Saeki T, Dono R, Persico MG, Plowman GD, Garrigues J, Radke S, Todaro GJ, Salomon DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "1715580", "url": "https://glygen.org/publication/PubMed/1715580" } ] }, { "title": "A meta-analysis of human embryonic stem cells transcriptome integrated into a web-based expression atlas.", "journal": "Stem cells (Dayton, Ohio)", "date": "2007", "authors": "Assou S, Le Carrour T, Tondeur S, Strom S, Gabelle A, Marty S, Nadal L, Pantesco V, Reme T, Hugnot JP, Gasca S, Hovatta O, Hamamah S, Klein B, De Vos J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "17204602", "url": "https://glygen.org/publication/PubMed/17204602" } ] }, { "title": "Zic3 is required for maintenance of pluripotency in embryonic stem cells.", "journal": "Molecular biology of the cell", "date": "2007", "authors": "Lim LS, Loh YH, Zhang W, Li Y, Chen X, Wang Y, Bakre M, Ng HH, Stanton LW", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "17267691", "url": "https://glygen.org/publication/PubMed/17267691" } ] }, { "title": "Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain.", "journal": "Human mutation", "date": "2007", "authors": "Chhin B, Hatayama M, Bozon D, Ogawa M, Schon P, Tohmonda T, Sassolas F, Aruga J, Valard AG, Chen SC, Bouvagnet P", "evidence": [ { "database": "UniProtKB", "id": "O60481", "url": "https://www.uniprot.org/uniprot/O60481" } ], "reference": [ { "type": "PubMed", "id": "17295247", "url": "https://glygen.org/publication/PubMed/17295247" } ] }, { "title": "Silencing of core transcription factors in human EC cells highlights the importance of autocrine FGF signaling for self-renewal.", "journal": "BMC developmental biology", "date": "2007", "authors": "Greber B, Lehrach H, Adjaye J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "17506876", "url": "https://glygen.org/publication/PubMed/17506876" } ] }, { "title": "Identification of an OCT4 and SRY regulatory module using integrated computational and experimental genomics approaches.", "journal": "Genome research", "date": "2007", "authors": "Jin VX, O'Geen H, Iyengar S, Green R, Farnham PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "17567999", "url": "https://glygen.org/publication/PubMed/17567999" } ] }, { "title": "Characterization of human embryonic stem cell lines by the International Stem Cell Initiative.", "journal": "Nature biotechnology", "date": "2007", "authors": "Adewumi O, Aflatoonian B, Ahrlund-Richter L, Amit M, Andrews PW, Beighton G, Bello PA, Benvenisty N, Berry LS, Bevan S, Blum B, Brooking J, Chen KG, Choo AB, Churchill GA, Corbel M, Damjanov I, Draper JS, Dvorak P, Emanuelsson K, Fleck RA, Ford A, Gertow K, Gertsenstein M, Gokhale PJ, Hamilton RS, Hampl A, Healy LE, Hovatta O, Hyllner J, Imreh MP, Itskovitz-Eldor J, Jackson J, Johnson JL, Jones M, Kee K, King BL, Knowles BB, Lako M, Lebrin F, Mallon BS, Manning D, Mayshar Y, McKay RD, Michalska AE, Mikkola M, Mileikovsky M, Minger SL, Moore HD, Mummery CL, Nagy A, Nakatsuji N, O'Brien CM, Oh SK, Olsson C, Otonkoski T, Park KY, Passier R, Patel H, Patel M, Pedersen R, Pera MF, Piekarczyk MS, Pera RA, Reubinoff BE, Robins AJ, Rossant J, Rugg-Gunn P, Schulz TC, Semb H, Sherrer ES, Siemen H, Stacey GN, Stojkovic M, Suemori H, Szatkiewicz J, Turetsky T, Tuuri T, van den Brink S, Vintersten K, Vuoristo S, Ward D, Weaver TA, Young LA, Zhang W", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "17572666", "url": "https://glygen.org/publication/PubMed/17572666" } ] }, { "title": "Zfp206 is a transcription factor that controls pluripotency of embryonic stem cells.", "journal": "Stem cells (Dayton, Ohio)", "date": "2007", "authors": "Wang ZX, Kueh JL, Teh CH, Rossbach M, Lim L, Li P, Wong KY, Lufkin T, Robson P, Stanton LW", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "17628018", "url": "https://glygen.org/publication/PubMed/17628018" } ] }, { "title": "Characterization of the interactions of human ZIC3 mutants with GLI3.", "journal": "Human mutation", "date": "2008", "authors": "Zhu L, Zhou G, Poole S, Belmont JW", "evidence": [ { "database": "UniProtKB", "id": "O60481", "url": "https://www.uniprot.org/uniprot/O60481" } ], "reference": [ { "type": "PubMed", "id": "17764085", "url": "https://glygen.org/publication/PubMed/17764085" } ] }, { "title": "Induced pluripotent stem cell lines derived from human somatic cells.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Yu J, Vodyanik MA, Smuga-Otto K, Antosiewicz-Bourget J, Frane JL, Tian S, Nie J, Jonsdottir GA, Ruotti V, Stewart R, Slukvin II, Thomson JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "18029452", "url": "https://glygen.org/publication/PubMed/18029452" } ] }, { "title": "Induction of pluripotent stem cells from adult human fibroblasts by defined factors.", "journal": "Cell", "date": "2007", "authors": "Takahashi K, Tanabe K, Ohnuki M, Narita M, Ichisaka T, Tomoda K, Yamanaka S", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "18035408", "url": "https://glygen.org/publication/PubMed/18035408" } ] }, { "title": "High-throughput biochemical analysis of in vivo location data reveals novel distinct classes of POU5F1(Oct4)/DNA complexes.", "journal": "Genome research", "date": "2008", "authors": "Tantin D, Gemberling M, Callister C, Fairbrother WG", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "18212089", "url": "https://glygen.org/publication/PubMed/18212089" } ] }, { "title": "Identification of DPPA4 and other genes as putative Sox2:Oct-3/4 target genes using a combination of in silico analysis and transcription-based assays.", "journal": "Journal of cellular physiology", "date": "2008", "authors": "Chakravarthy H, Boer B, Desler M, Mallanna SK, McKeithan TW, Rizzino A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "18366076", "url": "https://glygen.org/publication/PubMed/18366076" } ] }, { "title": "Regulation of self-renewal and pluripotency by Sox2 in human embryonic stem cells.", "journal": "Stem cells (Dayton, Ohio)", "date": "2008", "authors": "Fong H, Hohenstein KA, Donovan PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "18388306", "url": "https://glygen.org/publication/PubMed/18388306" } ] }, { "title": "Regulation of embryonic stem cell self-renewal and pluripotency by Foxd3.", "journal": "Stem cells (Dayton, Ohio)", "date": "2008", "authors": "Liu Y, Labosky PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "18653770", "url": "https://glygen.org/publication/PubMed/18653770" } ] }, { "title": "Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain.", "journal": "Human molecular genetics", "date": "2008", "authors": "Hatayama M, Tomizawa T, Sakai-Kato K, Bouvagnet P, Kose S, Imamoto N, Yokoyama S, Utsunomiya-Tate N, Mikoshiba K, Kigawa T, Aruga J", "evidence": [ { "database": "UniProtKB", "id": "O60481", "url": "https://www.uniprot.org/uniprot/O60481" } ], "reference": [ { "type": "PubMed", "id": "18716025", "url": "https://glygen.org/publication/PubMed/18716025" } ] }, { "title": "Markers that define stemness in ESC are unable to identify the totipotent cells in human preimplantation embryos.", "journal": "Human reproduction (Oxford, England)", "date": "2009", "authors": "Cauffman G, De Rycke M, Sermon K, Liebaers I, Van de Velde H", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "18824471", "url": "https://glygen.org/publication/PubMed/18824471" } ] }, { "title": "A gene expression signature shared by human mature oocytes and embryonic stem cells.", "journal": "BMC genomics", "date": "2009", "authors": "Assou S, Cerecedo D, Tondeur S, Pantesco V, Hovatta O, Klein B, Hamamah S, De Vos J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "19128516", "url": "https://glygen.org/publication/PubMed/19128516" } ] }, { "title": "Signal transducer and activator of transcription 3 is a transcriptional factor regulating the gene expression of SALL4.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2009", "authors": "Bard JD, Gelebart P, Amin HM, Young LC, Ma Y, Lai R", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "19151334", "url": "https://glygen.org/publication/PubMed/19151334" } ] }, { "title": "Genome-wide analysis of histidine repeats reveals their role in the localization of human proteins to the nuclear speckles compartment.", "journal": "PLoS Genet.", "date": "2009", "authors": "Salichs E, Ledda A, Mularoni L, Alba MM, de la Luna S", "evidence": [ { "database": "UniProtKB", "id": "O60481", "url": "https://www.uniprot.org/uniprot/O60481" } ], "reference": [ { "type": "PubMed", "id": "19266028", "url": "https://glygen.org/publication/PubMed/19266028" } ] }, { "title": "Stem cell factor SALL4 represses the transcriptions of PTEN and SALL1 through an epigenetic repressor complex.", "journal": "PloS one", "date": "2009", "authors": "Lu J, Jeong HW, Kong N, Yang Y, Carroll J, Luo HR, Silberstein LE, Yupoma, Chai L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "19440552", "url": "https://glygen.org/publication/PubMed/19440552" } ] }, { "title": "Isolation and characterization of stem cells from the human parathyroid gland.", "journal": "Cell proliferation", "date": "2009", "authors": "Shih YR, Kuo TK, Yang AH, Lee OK, Lee CH", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "19489980", "url": "https://glygen.org/publication/PubMed/19489980" } ] }, { "title": "KLF4 and PBX1 directly regulate NANOG expression in human embryonic stem cells.", "journal": "Stem cells (Dayton, Ohio)", "date": "2009", "authors": "Chan KK, Zhang J, Chia NY, Chan YS, Sim HS, Tan KS, Oh SK, Ng HH, Choo AB", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "19522013", "url": "https://glygen.org/publication/PubMed/19522013" } ] }, { "title": "A complex role for FGF-2 in self-renewal, survival, and adhesion of human embryonic stem cells.", "journal": "Stem cells (Dayton, Ohio)", "date": "2009", "authors": "Eiselleova L, Matulka K, Kriz V, Kunova M, Schmidtova Z, Neradil J, Tichy B, Dvorakova D, Pospisilova S, Hampl A, Dvorak P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "19544431", "url": "https://glygen.org/publication/PubMed/19544431" } ] }, { "title": "In silico identification of a core regulatory network of OCT4 in human embryonic stem cells using an integrated approach.", "journal": "BMC genomics", "date": "2009", "authors": "Chavez L, Bais AS, Vingron M, Lehrach H, Adjaye J, Herwig R", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "19604364", "url": "https://glygen.org/publication/PubMed/19604364" } ] }, { "title": "Signaling pathways controlling pluripotency and early cell fate decisions of human induced pluripotent stem cells.", "journal": "Stem cells (Dayton, Ohio)", "date": "2009", "authors": "Vallier L, Touboul T, Brown S, Cho C, Bilican B, Alexander M, Cedervall J, Chandran S, Ahrlund-Richter L, Weber A, Pedersen RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "19688839", "url": "https://glygen.org/publication/PubMed/19688839" } ] }, { "title": "Expression of stem cell markers in the human fetal kidney.", "journal": "PloS one", "date": "2009", "authors": "Metsuyanim S, Harari-Steinberg O, Buzhor E, Omer D, Pode-Shakked N, Ben-Hur H, Halperin R, Schneider D, Dekel B", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "19696931", "url": "https://glygen.org/publication/PubMed/19696931" } ] }, { "title": "Hypoxia inducible factors regulate pluripotency and proliferation in human embryonic stem cells cultured at reduced oxygen tensions.", "journal": "Reproduction (Cambridge, England)", "date": "2010", "authors": "Forristal CE, Wright KL, Hanley NA, Oreffo RO, Houghton FD", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "19755485", "url": "https://glygen.org/publication/PubMed/19755485" } ] }, { "title": "Human DNA methylomes at base resolution show widespread epigenomic differences.", "journal": "Nature", "date": "2009", "authors": "Lister R, Pelizzola M, Dowen RH, Hawkins RD, Hon G, Tonti-Filippini J, Nery JR, Lee L, Ye Z, Ngo QM, Edsall L, Antosiewicz-Bourget J, Stewart R, Ruotti V, Millar AH, Thomson JA, Ren B, Ecker JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "19829295", "url": "https://glygen.org/publication/PubMed/19829295" } ] }, { "title": "Lin28-mediated post-transcriptional regulation of Oct4 expression in human embryonic stem cells.", "journal": "Nucleic acids research", "date": "2010", "authors": "Qiu C, Ma Y, Wang J, Peng S, Huang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "19966271", "url": "https://glygen.org/publication/PubMed/19966271" } ] }, { "title": "Reprogramming towards pluripotency requires AID-dependent DNA demethylation.", "journal": "Nature", "date": "2010", "authors": "Bhutani N, Brady JJ, Damian M, Sacco A, Corbel SY, Blau HM", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "20027182", "url": "https://glygen.org/publication/PubMed/20027182" } ] }, { "title": "Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?", "journal": "Journal of medical genetics", "date": "2010", "authors": "Wessels MW, Kuchinka B, Heydanus R, Smit BJ, Dooijes D, de Krijger RR, Lequin MH, de Jong EM, Husen M, Willems PJ, Casey B", "evidence": [ { "database": "UniProtKB", "id": "O60481", "url": "https://www.uniprot.org/uniprot/O60481" } ], "reference": [ { "type": "PubMed", "id": "20452998", "url": "https://glygen.org/publication/PubMed/20452998" } ] }, { "title": "A data integration approach to mapping OCT4 gene regulatory networks operative in embryonic stem cells and embryonal carcinoma cells.", "journal": "PloS one", "date": "2010", "authors": "Jung M, Peterson H, Chavez L, Kahlem P, Lehrach H, Vilo J, Adjaye J", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "20505756", "url": "https://glygen.org/publication/PubMed/20505756" } ] }, { "title": "A novel SALL4/OCT4 transcriptional feedback network for pluripotency of embryonic stem cells.", "journal": "PloS one", "date": "2010", "authors": "Yang J, Gao C, Chai L, Ma Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "20505821", "url": "https://glygen.org/publication/PubMed/20505821" } ] }, { "title": "Transposable elements have rewired the core regulatory network of human embryonic stem cells.", "journal": "Nature genetics", "date": "2010", "authors": "Kunarso G, Chia NY, Jeyakani J, Hwang C, Lu X, Chan YS, Ng HH, Bourque G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "20526341", "url": "https://glygen.org/publication/PubMed/20526341" } ] }, { "title": "Cripto-1 is a cell surface marker for a tumorigenic, undifferentiated subpopulation in human embryonal carcinoma cells.", "journal": "Stem cells (Dayton, Ohio)", "date": "2010", "authors": "Watanabe K, Meyer MJ, Strizzi L, Lee JM, Gonzales M, Bianco C, Nagaoka T, Farid SS, Margaryan N, Hendrix MJ, Vonderhaar BK, Salomon DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "20549704", "url": "https://glygen.org/publication/PubMed/20549704" } ] }, { "title": "Role of Cripto-1 in stem cell maintenance and malignant progression.", "journal": "The American journal of pathology", "date": "2010", "authors": "Bianco C, Rangel MC, Castro NP, Nagaoka T, Rollman K, Gonzales M, Salomon DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "20616345", "url": "https://glygen.org/publication/PubMed/20616345" } ] }, { "title": "Cripto-1: an embryonic gene that promotes tumorigenesis.", "journal": "Future oncology (London, England)", "date": "2010", "authors": "de Castro NP, Rangel MC, Nagaoka T, Salomon DS, Bianco C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "20624125", "url": "https://glygen.org/publication/PubMed/20624125" } ] }, { "title": "Differential roles of Sall4 isoforms in embryonic stem cell pluripotency.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Rao S, Zhen S, Roumiantsev S, McDonald LT, Yuan GC, Orkin SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "20837710", "url": "https://glygen.org/publication/PubMed/20837710" } ] }, { "title": "The pluripotency regulator Zic3 is a direct activator of the Nanog promoter in ESCs.", "journal": "Stem cells (Dayton, Ohio)", "date": "2010", "authors": "Lim LS, Hong FH, Kunarso G, Stanton LW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "20872845", "url": "https://glygen.org/publication/PubMed/20872845" } ] }, { "title": "A genome-wide RNAi screen reveals determinants of human embryonic stem cell identity.", "journal": "Nature", "date": "2010", "authors": "Chia NY, Chan YS, Feng B, Lu X, Orlov YL, Moreau D, Kumar P, Yang L, Jiang J, Lau MS, Huss M, Soh BS, Kraus P, Li P, Lufkin T, Lim B, Clarke ND, Bard F, Ng HH", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "20953172", "url": "https://glygen.org/publication/PubMed/20953172" } ] }, { "title": "Functional genomics of 5- to 8-cell stage human embryos by blastomere single-cell cDNA analysis.", "journal": "PloS one", "date": "2010", "authors": "Galan A, Montaner D, Poo ME, Valbuena D, Ruiz V, Aguilar C, Dopazo J, Simon C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "21049019", "url": "https://glygen.org/publication/PubMed/21049019" } ] }, { "title": "Activin/Nodal signaling controls divergent transcriptional networks in human embryonic stem cells and in endoderm progenitors.", "journal": "Stem cells (Dayton, Ohio)", "date": "2011", "authors": "Brown S, Teo A, Pauklin S, Hannan N, Cho CH, Lim B, Vardy L, Dunn NR, Trotter M, Pedersen R, Vallier L", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "21630377", "url": "https://glygen.org/publication/PubMed/21630377" } ] }, { "title": "Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease.", "journal": "PLoS ONE", "date": "2011", "authors": "Bedard JE, Haaning AM, Ware SM", "evidence": [ { "database": "UniProtKB", "id": "O60481", "url": "https://www.uniprot.org/uniprot/O60481" }, { "database": "RefSeq", "id": "NP_001317590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317590" } ], "reference": [ { "type": "PubMed", "id": "21858219", "url": "https://glygen.org/publication/PubMed/21858219" } ] }, { "title": "An alternative splicing switch regulates embryonic stem cell pluripotency and reprogramming.", "journal": "Cell", "date": "2011", "authors": "Gabut M, Samavarchi-Tehrani P, Wang X, Slobodeniuc V, O'Hanlon D, Sung HK, Alvarez M, Talukder S, Pan Q, Mazzoni EO, Nedelec S, Wichterle H, Woltjen K, Hughes TR, Zandstra PW, Nagy A, Wrana JL, Blencowe BJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "21924763", "url": "https://glygen.org/publication/PubMed/21924763" } ] }, { "title": "Determinants of mRNA recognition and translation regulation by Lin28.", "journal": "Nucleic acids research", "date": "2012", "authors": "Lei XX, Xu J, Ma W, Qiao C, Newman MA, Hammond SM, Huang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "22210884", "url": "https://glygen.org/publication/PubMed/22210884" } ] }, { "title": "Combinatorial binding in human and mouse embryonic stem cells identifies conserved enhancers active in early embryonic development.", "journal": "PLoS computational biology", "date": "2011", "authors": "Goke J, Jung M, Behrens S, Chavez L, O'Keeffe S, Timmermann B, Lehrach H, Adjaye J, Vingron M", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "22215994", "url": "https://glygen.org/publication/PubMed/22215994" } ] }, { "title": "Control of ground-state pluripotency by allelic regulation of Nanog.", "journal": "Nature", "date": "2012", "authors": "Miyanari Y, Torres-Padilla ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "22327294", "url": "https://glygen.org/publication/PubMed/22327294" } ] }, { "title": "Modulation of FOXD3 activity in human embryonic stem cells directs pluripotency and paraxial mesoderm fates.", "journal": "Stem cells (Dayton, Ohio)", "date": "2012", "authors": "Arduini BL, Brivanlou AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "22887036", "url": "https://glygen.org/publication/PubMed/22887036" } ] }, { "title": "Zfp281 mediates Nanog autorepression through recruitment of the NuRD complex and inhibits somatic cell reprogramming.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Fidalgo M, Faiola F, Pereira CF, Ding J, Saunders A, Gingold J, Schaniel C, Lemischka IR, Silva JC, Wang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "22988117", "url": "https://glygen.org/publication/PubMed/22988117" } ] }, { "title": "OCT4/SOX2-independent Nanog autorepression modulates heterogeneous Nanog gene expression in mouse ES cells.", "journal": "The EMBO journal", "date": "2012", "authors": "Navarro P, Festuccia N, Colby D, Gagliardi A, Mullin NP, Zhang W, Karwacki-Neisius V, Osorno R, Kelly D, Robertson M, Chambers I", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "23178592", "url": "https://glygen.org/publication/PubMed/23178592" } ] }, { "title": "Biallelic expression of nanog protein in mouse embryonic stem cells.", "journal": "Cell stem cell", "date": "2013", "authors": "Filipczyk A, Gkatzis K, Fu J, Hoppe PS, Lickert H, Anastassiadis K, Schroeder T", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "23827706", "url": "https://glygen.org/publication/PubMed/23827706" } ] }, { "title": "Single-cell analysis reveals that expression of nanog is biallelic and equally variable as that of other pluripotency factors in mouse ESCs.", "journal": "Cell stem cell", "date": "2013", "authors": "Faddah DA, Wang H, Cheng AW, Katz Y, Buganim Y, Jaenisch R", "evidence": [ { "database": "Reactome", "id": "R-HSA-452723", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-452723" } ], "reference": [ { "type": "PubMed", "id": "23827708", "url": "https://glygen.org/publication/PubMed/23827708" } ] }, { "title": "Genetic and functional analyses of ZIC3 variants in congenital heart disease.", "journal": "Human mutation", "date": "2014", "authors": "Cowan J, Tariq M, Ware SM", "evidence": [ { "database": "UniProtKB", "id": "O60481", "url": "https://www.uniprot.org/uniprot/O60481" } ], "reference": [ { "type": "PubMed", "id": "24123890", "url": "https://glygen.org/publication/PubMed/24123890" } ] }, { "title": "Comparative receptor tyrosine kinase profiling identifies a novel role for AXL in human stem cell pluripotency.", "journal": "Human molecular genetics", "date": "2014", "authors": "Son MY, Seol B, Han YM, Cho YS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "24218367", "url": "https://glygen.org/publication/PubMed/24218367" } ] }, { "title": "An Evolutionarily Conserved Mesodermal Enhancer in Vertebrate Zic3.", "journal": "Scientific reports", "date": "2018", "authors": "Odaka YS, Tohmonda T, Toyoda A, Aruga J", "evidence": [ { "database": "RefSeq", "id": "NP_001317590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317590" } ], "reference": [ { "type": "PubMed", "id": "30297839", "url": "https://glygen.org/publication/PubMed/30297839" } ] }, { "title": "miR-155-5p inhibits the viability of vascular smooth muscle cell via targeting FOS and ZIC3 to promote aneurysm formation.", "journal": "European journal of pharmacology", "date": "2019", "authors": "Zhao L, Ouyang Y, Bai Y, Gong J, Liao H", "evidence": [ { "database": "RefSeq", "id": "NP_001317590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317590" } ], "reference": [ { "type": "PubMed", "id": "30898623", "url": "https://glygen.org/publication/PubMed/30898623" } ] }, { "title": "Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3.", "journal": "Clinical genetics", "date": "2020", "authors": "Trimouille A, Tingaud-Sequeira A, Lacombe D, Duelund Hjortshoj T, Kreiborg S, Buciek Hove H, Rooryck C", "evidence": [ { "database": "RefSeq", "id": "NP_001317590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317590" } ], "reference": [ { "type": "PubMed", "id": "32639022", "url": "https://glygen.org/publication/PubMed/32639022" } ] }, { "title": "A novel ZIC3 mutation in a Chinese family with heterotaxy and multiple types of congenital heart defect.", "journal": "Prenatal diagnosis", "date": "2023-03", "authors": "Wang Yu, Dai Xiaohui, Liu Hanmin, Peng Jin, Chen Jiao", "evidence": [ { "database": "RefSeq", "id": "NP_001317590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317590" } ], "reference": [ { "type": "PubMed", "id": "36567274", "url": "https://glygen.org/publication/PubMed/36567274" } ] }, { "title": "Zic family member 3 attenuates oxidative stress-induced vascular smooth muscle cell apoptosis in patients with chronic kidney disease.", "journal": "Tissue & cell", "date": "2024-02", "authors": "Gao Jianya, Liu Lei, Wu Zecheng, Gan Hua", "evidence": [ { "database": "RefSeq", "id": "NP_001317590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317590" } ], "reference": [ { "type": "PubMed", "id": "38091851", "url": "https://glygen.org/publication/PubMed/38091851" } ] }, { "title": "Stat3 and Stat4: members of the family of signal transducers and activators of transcription.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Zhong Z, Wen Z, Darnell JE Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": "7545930", "url": "https://glygen.org/publication/PubMed/7545930" } ] }, { "title": "Immunolocalization of fibroblast growth factor receptor 1 and its ligands in human tissues.", "journal": "Laboratory investigation; a journal of technical methods and pathology", "date": "1993", "authors": "Hughes SE, Hall PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2892247", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2892247" } ], "reference": [ { "type": "PubMed", "id": 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