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Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure." }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "DES autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "DES myofibrillar myopathy (disease)", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "autosomal recessive limb-girdle muscular dystrophy type 2R", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "desmin-related myofibrillar myopathy", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "desminopathy", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myofibrillar myopathy (disease) caused by mutation in DES", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myofibrillar myopathy 1", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myofibrillar myopathy type 1", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myopathy, myofibrillar, type 1", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "CMD1F and LGMD1D", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "IBM1", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "MFM1", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "arrhythmogenic right ventricular cardiomyopathy 7", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "arrhythmogenic right ventricular dysplasia, familial, 7", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "cardiomyopathy, dilated, with conduction defect and muscular dystrophy", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "inclusion body myopathy 1, autosomal dominant", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myopathy, myofibrillar, 1", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myofibrillar myopathy 1", "description": "A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. 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], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The peptidyl-prolyl isomerase Pin1 interacts with hSpt5 phosphorylated by Cdk9.", "journal": "Journal of molecular biology", "date": "2001", "authors": "Lavoie SB, Albert AL, Handa H, Vincent M, Bensaude O", "reference": { "type": "PubMed", "id": "11575923", "url": "https://pubmed.ncbi.nlm.nih.gov/11575923" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50750-1", "protein_name": "Cyclin-dependent kinase 9", "gene_name": "CDK9", "tax_name": "Human" }, { 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0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Spt5 cooperates with human immunodeficiency virus type 1 Tat by preventing premature RNA release at terminator sequences.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Bourgeois CF, Kim YK, Churcher MJ, West MJ, Karn J", "reference": { "type": "PubMed", "id": "11809800", "url": "https://pubmed.ncbi.nlm.nih.gov/11809800" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50750-1", "protein_name": "Cyclin-dependent kinase 9", "gene_name": "CDK9", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00267-1", "protein_name": "Transcription elongation factor SPT5", "gene_name": "SUPT5H", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50750", "url": 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cdk9/cyclin T2.", "journal": "Oncogene", "date": "2002", "authors": "Simone C, Stiegler P, Bagella L, Pucci B, Bellan C, De Falco G, De Luca A, Guanti G, Puri PL, Giordano A", "reference": { "type": "PubMed", "id": "12037670", "url": "https://pubmed.ncbi.nlm.nih.gov/12037670" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50750-1", "protein_name": "Cyclin-dependent kinase 9", "gene_name": "CDK9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7TQK0-1", "protein_name": "Cyclin-T2", "gene_name": "Ccnt2", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "P10085-1", "protein_name": "Myoblast determination protein 1", "gene_name": "Myod1", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "P15172-1", "protein_name": "Myoblast determination protein 1", "gene_name": "MYOD1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99J95-1", "protein_name": "Cyclin-dependent kinase 9", "gene_name": "Cdk9", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50750", "url": "https://www.uniprot.org/uniprotkb/P50750" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12037670", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "MCEF, the newest member of the AF4 family of transcription factors involved in leukemia, is a positive transcription elongation factor-b-associated protein.", "journal": "J. Biomed. Sci.", "date": "2002", "authors": "Estable MC, Naghavi MH, Kato H, Xiao H, Qin J, Vahlne A, Roeder RG", "reference": { "type": "PubMed", "id": "12065898", "url": "https://pubmed.ncbi.nlm.nih.gov/12065898" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50750-1", "protein_name": "Cyclin-dependent kinase 9", "gene_name": "CDK9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UHB7-1", "protein_name": "AF4/FMR2 family member 4", "gene_name": "AFF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60563-1", "protein_name": "Cyclin-T1", "gene_name": "CCNT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50750", "url": "https://www.uniprot.org/uniprotkb/P50750" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12065898", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "CDK9 has the intrinsic property to shuttle between nucleus and cytoplasm, and enhanced expression of cyclin T1 promotes its nuclear localization.", "journal": "J. 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