{ "bcoid": "GLY_000722", "title": "Human Literature Mutations Citations", "description": "The Human Literature Mutations Citations contains details of the publication present in the dataset Human ...", "filename": "human_protein_citations_mutation_literature.csv", "filetype": "csv", "categories": { "species": [ "Homo sapiens" ], "molecule": [ "Protein" ], "tag": [ "Literature Mutation Citations" ], "file_type": [ "csv" ], "status": [ "Reviewed" ], "scope": [ "internal" ] }, "minitable": { "content": [ [ "P18887-1...", "Re: XRCC1 Ar..." ], [ "O60674-1...", "Simultaneous..." ] ], "headers": [ "uniprotkb_ca...", "title..." ], "colwidth": [ "40%", "20%" ] }, "sampledata": { "type": "table", "data": [ [ { "type": "string", "label": "uniprotkb_canonical_ac" }, { "type": "string", "label": "title" }, { "type": "string", "label": "journal_name" }, { "type": "string", "label": "publication_date" }, { "type": "string", "label": "authors" }, { "type": "string", "label": "xref_key" }, { "type": "string", "label": "xref_id" }, { "type": "string", "label": "src_xref_key" }, { "type": "string", "label": "src_xref_id" } ], [ "P18887-1", "Re: XRCC1 Arg399Gln, Arg194Trp and Arg280His polymorphisms in breast cancer risk: a meta-analysis (Mutagenesis, 24, 331-339, 2009).", "Mutagenesis", "2011 Sep", "Chen MB, Li C, Wei MX, Shen W, Lu PH", "protein_xref_pubmed", "21745805", "protein_xref_entrez", "7515" ], [ "O60674-1", "Simultaneous presentation of JAK2 V617F mutation-related essential thrombocythemia and B-cell chronic lymphocytic leukemia.", "Blood research", "2014 Jun", "D'Angelo G, Hotz AM, Ciambelli F, Pauli S", "protein_xref_pubmed", "25025018", "protein_xref_entrez", "3717" ], [ "P42336-1", "Detection of PIK3CA gene mutations with HRM analysis and association with IGFBP-5 expression levels in breast cancer.", "Asian Pacific journal of cancer prevention : APJCP", "2014", "Dirican E, Kaya Z, Gullu G, Peker I, Ozmen T, Gulluoglu BM, Kaya H, Ozer A, Akkiprik M", "protein_xref_pubmed", "25422220", "protein_xref_entrez", "5290" ], [ "P38398-1", "Functional analysis of BRCA1 missense variants of uncertain significance in Japanese breast cancer families.", "Journal of human genetics", "2013 Sep", "Kawaku S, Sato R, Song H, Bando Y, Arinami T, Noguchi E", "protein_xref_pubmed", "23842040", "protein_xref_entrez", "672" ], [ "O60934-1", "Single nucleotide polymorphisms in DNA repair genes and basal cell carcinoma of skin.", "Carcinogenesis", "2006 Aug", "Thirumaran RK, Bermejo JL, Rudnai P, Gurzau E, Koppova K, Goessler W, Vahter M, Leonardi GS, Clemens F, Fletcher T, Hemminki K, Kumar R", "protein_xref_pubmed", "16501254", "protein_xref_entrez", "4683" ], [ "O96017-1", "CHEK2 is a multiorgan cancer susceptibility gene.", "American journal of human genetics", "2004 Dec", "Cybulski C, Gorski B, Huzarski T, Masojc B, Mierzejewski M, Debniak T, Teodorczyk U, Byrski T, Gronwald J, Matyjasik J, Zlowocka E, Lenner M, Grabowska E, Nej K, Castaneda J, Medrek K, Szymanska A, Szymanska J, Kurzawski G, Suchy J, Oszurek O, Witek A, Narod SA, Lubinski J", "protein_xref_pubmed", "15492928", "protein_xref_entrez", "11200" ], [ "P07949-1", "Possible Impact of RET Polymorphism and Its Haplotypic Association Modulates the Susceptibility to Thyroid Cancer.", "Journal of cellular biochemistry", "2015 Aug", "Khan MS, Pandith AA, Iqbal M, Naykoo NA, Khan SH, Rather TA, Mudassar S", "protein_xref_pubmed", "25736215", "protein_xref_entrez", "5979" ], [ "Q99527-1", "A genetic polymorphism repurposes the G-protein coupled and membrane-associated estrogen receptor GPER to a transcription factor-like molecule promoting paracrine signaling between stroma and breast carcinoma cells.", "Oncotarget", "2017 Jul 18", "Pupo M, Bodmer A, Berto M, Maggiolini M, Dietrich PY, Picard D", "protein_xref_pubmed", "28596490", "protein_xref_entrez", "2852" ], [ "P00533-1", "Osimertinib compared docetaxel-bevacizumab as third-line treatment in EGFR T790M mutated non-small-cell lung cancer.", "Lung cancer (Amsterdam, Netherlands)", "2018 Jul", "Nie K, Zhang Z, Zhang C, Geng C, Zhang L, Xu X, Liu S, Wang S, Zhuang X, Lan K, Ji Y", "protein_xref_pubmed", "29858027", "protein_xref_entrez", "1956" ], [ "P04626-1", "Lack of replication for the association between HER2 I655V polymorphism and breast cancer risk: a systematic review and meta-analysis.", "Cancer epidemiology", "2011 Dec", "Dahabreh IJ, Murray S", "protein_xref_pubmed", "21474413", "protein_xref_entrez", "2064" ], [ "P15056-1", "Detection of the BRAF V600E mutation in melanocytic lesions using the ligase detection reaction.", "Journal of cutaneous pathology", "2005 May", "Turner DJ, Zirvi MA, Barany F, Elenitsas R, Seykora J", "protein_xref_pubmed", "15811117", "protein_xref_entrez", "673" ], [ "O14965-1", "STK15 polymorphisms and association with risk of invasive ovarian cancer.", "Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology", "2004 Oct", "Dicioccio RA, Song H, Waterfall C, Kimura MT, Nagase H, McGuire V, Hogdall E, Shah MN, Luben RN, Easton DF, Jacobs IJ, Ponder BA, Whittemore AS, Gayther SA, Pharoah PD, Kruger-Kjaer S", "protein_xref_pubmed", "15466974", "protein_xref_entrez", "6790" ], [ "O60674-1", "Detection of the activating JAK2 V617F mutation in paraffin-embedded trephine bone marrow biopsies of patients with chronic myeloproliferative diseases.", "The Journal of molecular diagnostics : JMD", "2006 Jul", "Horn T, Kremer M, Dechow T, Pfeifer WM, Geist B, Perker M, Duyster J, Quintanilla-Martinez L, Fend F", "protein_xref_pubmed", "16825501", "protein_xref_entrez", "3717" ], [ "P10721-1", "Rapamycin inhibits growth and survival of D816V-mutated c-kit mast cells.", "Blood", "2006 Aug 1", "Gabillot-Carre M, Lepelletier Y, Humbert M, de Sepuvelda P, Hamouda NB, Zappulla JP, Liblau R, Ribadeau-Dumas A, Machavoine F, Letard S, Baude C, Hermant A, Yang Y, Vargaftig J, Bodemer C, Morelon E, Lortholary O, Recher C, Laurent G, Dy M, Arock M, Dubreuil P, Hermine O", "protein_xref_pubmed", "16597595", "protein_xref_entrez", "3815" ], [ "P15056-1", "Update from the 4th Edition of the World Health Organization Classification of Head and Neck Tumours: Mucosal Melanomas.", "Head and neck pathology", "2017 Mar", "Williams MD", "protein_xref_pubmed", "28247222", "protein_xref_entrez", "673" ], [ "P40692-1", "Low allele frequency of MLH1 D132H in American colorectal and endometrial cancer patients.", "Diseases of the colon and rectum", "2005 Sep", "Shin BY, Chen H, Rozek LS, Paxton L, Peel DJ, Anton-Culver H, Rennert G, Mutch DG, Goodfellow PJ, Gruber SB, Lipkin SM", "protein_xref_pubmed", "15991064", "protein_xref_entrez", "4292" ], [ "P18074-1", "Effects of ERCC2 Lys751Gln (A35931C) and CCND1 (G870A) polymorphism on outcome of advanced-stage squamous cell carcinoma of the head and neck are treatment dependent.", "Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology", "2011 Nov", "Zhong S, Nukui T, Buch S, Diergaarde B, Weissfeld LA, Grandis J, Romkes M, Weissfeld JL", "protein_xref_pubmed", "21890746", "protein_xref_entrez", "2068" ], [ "Q6TDU7-1", "A V141L polymorphism of the human LRMP gene is associated with survival of lung cancer patients.", "Carcinogenesis", "2006 Jul", "Manenti G, Galbiati F, Pettinicchio A, Spinola M, Piconese S, Leoni VP, Conti B, Ravagnani F, Incarbone M, Pastorino U, Dragani TA", "protein_xref_pubmed", "16410263", "protein_xref_entrez", "55259" ], [ "P04626-1", "HER2 Ile655Val polymorphism contributes to breast cancer risk: evidence from 27 case-control studies.", "Breast cancer research and treatment", "2010 Dec", "Lu S, Wang Z, Liu H, Hao X", "protein_xref_pubmed", "20401632", "protein_xref_entrez", "2064" ], [ "P35869-1", "Estrogen metabolism-related genes and breast cancer risk: the multiethnic cohort study.", "Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology", "2005 Aug", "Le Marchand L, Donlon T, Kolonel LN, Henderson BE, Wilkens LR", "protein_xref_pubmed", "16103451", "protein_xref_entrez", "196" ], [ "P09874-1", "Lack of an association between two BER gene polymorphisms and breast cancer risk: a meta-analysis.", "PloS one", "2012", "Wu B, Liu HL, Zhang S, Dong XR, Wu G", "protein_xref_pubmed", "23272074", "protein_xref_entrez", "142" ], [ "P21964-1", "The l58Val/Met polymorphism of catechol-O-methyl transferase gene and prostate cancer risk: a meta-analysis.", "Molecular biology reports", "2013 Feb", "Xiao L, Tong M, Jin Y, Huang W, Li Z", "protein_xref_pubmed", "23096092", "protein_xref_entrez", "1312" ], [ "O75874-1", "IDH1 Mutation Is an Independent Inferior Prognostic Indicator for Patients with Myelodysplastic Syndromes.", "Acta haematologica", "2017", "Wang N, Wang F, Shan N, Sui X, Xu H", "protein_xref_pubmed", "28873367", "protein_xref_entrez", "3417" ], [ "P07949-1", "Coexistent familial nonmultiple endocrine neoplasia medullary thyroid carcinoma and papillary thyroid carcinoma associated with RET polymorphism.", "The American journal of the medical sciences", "2010 Jul", "Gul K, Ozdemir D, Ugras S, Inancli SS, Ersoy R, Cakir B", "protein_xref_pubmed", "20463576", "protein_xref_entrez", "5979" ], [ "P18887-1", "DNA repair gene XRCC1 polymorphisms and haplotypes in diffuse large B-cell lymphoma in a Korean population.", "Cancer genetics and cytogenetics", "2010 Jan 1", "Kim IS, Kim DC, Kim HG, Eom HS, Kong SY, Shin HJ, Hwang SH, Lee EY, Kim S, Lee GW", "protein_xref_pubmed", "19963133", "protein_xref_entrez", "7515" ], [ "P15056-1", "(V600E)BRAF promotes invasiveness of thyroid cancer cells by decreasing E-cadherin expression through a Snail-dependent mechanism.", "Cancer letters", "2013 Jul 10", "Baquero P, Sanchez-Hernandez I, Jimenez-Mora E, Orgaz JL, Jimenez B, Chiloeches A", "protein_xref_pubmed", "23435375", "protein_xref_entrez", "673" ], [ "O43542-1", "XRCC3 gene polymorphism is associated with survival in Japanese lung cancer patients.", "International journal of molecular sciences", "2012 Dec 5", "Osawa K, Nakarai C, Uchino K, Yoshimura M, Tsubota N, Takahashi J, Kido Y", "protein_xref_pubmed", "23443124", "protein_xref_entrez", "7517" ], [ "P15056-1", "Targeting CPT1A enhances metabolic therapy in human melanoma cells with the BRAF V600E mutation.", "The international journal of biochemistry & cell biology", "2016 Dec", "Sung GJ, Choi HK, Kwak S, Song JH, Ko H, Yoon HG, Kang HB, Choi KC", "protein_xref_pubmed", "27793752", "protein_xref_entrez", "673" ], [ "P18887-1", "XRCC1 gene polymorphisms in a population sample and in women with a family history of breast cancer from Rio de Janeiro (Brazil).", "Genetics and molecular biology", "2009 Apr", "Falagan-Lotsch P, Rodrigues MS, Esteves V, Vieira R, Amendola LC, Pagnoncelli D, Paixao JC, Gallo CV", "protein_xref_pubmed", "21637676", "protein_xref_entrez", "7515" ], [ "Q01726-1", "Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma.", "American journal of human genetics", "2001 Oct", "van der Velden PA, Sandkuijl LA, Bergman W, Pavel S, van Mourik L, Frants RR, Gruis NA", "protein_xref_pubmed", "11500806", "protein_xref_entrez", "4157" ], [ "P04637-1", "Novel germ line mutation p53-P177R in adult adrenocortical carcinoma producing neuron-specific enolase as a possible marker.", "Japanese journal of clinical oncology", "2010 Aug", "Ide H, Terado Y, Tokiwa S, Nishio K, Saito K, Isotani S, Kamiyama Y, Muto S, Imamura T, Horie S", "protein_xref_pubmed", "20421238", "protein_xref_entrez", "7157" ], [ "P04637-1", "Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors.", "Arquivos brasileiros de endocrinologia e metabologia", "2004 Oct", "Pinto EM, Billerbeck AE, Villares MC, Domenice S, Mendonca BB, Latronico AC", "protein_xref_pubmed", "15761534", "protein_xref_entrez", "7157" ], [ "P22607-1", "Bortezomib therapeutic effect is associated with expression of FGFR3 in multiple myeloma cells.", "Anticancer research", "2009 Jan", "Guan M, Zhu L, Somlo G, Hughes A, Zhou B, Yen Y", "protein_xref_pubmed", "19331127", "protein_xref_entrez", "2261" ], [ "P60484-1", "A novel germline mutation of PTEN associated with brain tumours of multiple lineages.", "British journal of cancer", "2002 May 20", "Staal FJ, van der Luijt RB, Baert MR, van Drunen J, van Bakel H, Peters E, de Valk I, van Amstel HK, Taphoorn MJ, Jansen GH, van Veelen CW, Burgering B, Staal GE", "protein_xref_pubmed", "12085208", "protein_xref_entrez", "5728" ], [ "P15056-1", "BRAF V600E mutation as a predictive factor of anti-EGFR monoclonal antibodies therapeutic effects in metastatic colorectal cancer: a meta-analysis.", "Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih", "2014 Dec", "Wang Q, Hu WG, Song QB, Wei J", "protein_xref_pubmed", "25429742", "protein_xref_entrez", "673" ], [ "O14745-1", "Breast cancer-derived K172N, D301V mutations abolish Na+/H+ exchanger regulatory factor 1 inhibition of platelet-derived growth factor receptor signaling.", "FEBS letters", "2013 Oct 11", "Cheng S, Li Y, Yang Y, Feng D, Yang L, Ma Q, Zheng S, Meng R, Wang S, Wang S, Jiang WG, He J", "protein_xref_pubmed", "24012959", "protein_xref_entrez", "9368" ], [ "P00533-1", "AC0010, an Irreversible EGFR Inhibitor Selectively Targeting Mutated EGFR and Overcoming T790M-Induced Resistance in Animal Models and Lung Cancer Patients.", "Molecular cancer therapeutics", "2016 Nov", "Xu X, Mao L, Xu W, Tang W, Zhang X, Xi B, Xu R, Fang X, Liu J, Fang C, Zhao L, Wang X, Jiang J, Hu P, Zhao H, Zhang L", "protein_xref_pubmed", "27573423", "protein_xref_entrez", "1956" ], [ "P04637-1", "Gastric Invasive Micropapillary Carcinoma with Intestinal Phenotypes Harboring a TP53 R175H Mutation.", "Case reports in oncology", "2014 Sep", "Ikeda H, Kukitsu T, Johmen W, Nakamura H, Yamauchi N, Ishikawa K, Saikawa T, Noda S, Saitoh T, Ueno Y, Noda Y, Yamazaki S, Kuroda Y, Koshiko S, Sasagawa Y", "protein_xref_pubmed", "25408652", "protein_xref_entrez", "7157" ], [ "O60674-1", "Serum hepcidin and growth differentiation factor-15 (GDF-15) levels in polycythemia vera and essential thrombocythemia.", "European journal of haematology", "2013 Sep", "Tarkun P, Mehtap O, Atesoglu EB, Geduk A, Musul MM, Hacihanefioglu A", "protein_xref_pubmed", "23731455", "protein_xref_entrez", "3717" ], [ "P27695-1", "Association of APE1 and hOGG1 polymorphisms with colorectal cancer risk in a Turkish population.", "Current medical research and opinion", "2011 Jul", "Canbay E, Cakmakoglu B, Zeybek U, Sozen S, Cacina C, Gulluoglu M, Balik E, Bulut T, Yamaner S, Bugra D", "protein_xref_pubmed", "21561390", "protein_xref_entrez", "328" ], [ "P00533-1", "EGFR gene mutations in patients with adenosquamous lung carcinoma.", "Asia-Pacific journal of clinical oncology", "2014 Dec", "Powrozek T, Krawczyk P, Ramlau R, Sura S, Wojas-Krawczyk K, Kucharczyk T, Walczyna B, Szumilo J, Szyszka-Barth K, Milecki P, Barinow-Wojewodzki A, Milanowski J", "protein_xref_pubmed", "24575772", "protein_xref_entrez", "1956" ], [ "Q15831-1", "LKB1, TP16, EGFR, and KRAS somatic mutations in lung adenocarcinomas from a Chiba Prefecture, Japan cohort.", "Drug discoveries & therapeutics", "2012 Feb", "Suzuki Y, Oonishi T, Kudo T, Doi H", "protein_xref_pubmed", "22460425", "protein_xref_entrez", "6794" ], [ "P25063-1", "CD24 Ala57Val polymorphism predicts pathologic complete response to sequential anthracycline- and taxane-based neoadjuvant chemotherapy for primary breast cancer.", "Breast cancer research and treatment", "2012 Apr", "Marme F, Werft W, Walter A, Keller S, Wang X, Benner A, Burwinkel B, Sinn P, Hug S, Sohn C, Bretz N, Moldenhauer G, Rupp C, Rupp AK, Biakhov MY, Bottini A, Friedrichs K, Khailenko VA, Manikhas GM, Ruiz A, Sanchez-Rovira P, Santoro A, Segui MA, Villena C, Lichter P, Kristiansen G, Altevogt P, Schneeweiss A", "protein_xref_pubmed", "21960110", "protein_xref_entrez", "100133941" ], [ "P15056-1", "P16 overexpression in BRAF-mutated gastrointestinal stromal tumors.", "Expert review of molecular diagnostics", "2017 Feb", "Shi SS, Wang X, Xia QY, Rao Q, Shen Q, Ye SB, Li R, Shi QL, Lu ZF, Ma HH, Zhou XJ", "protein_xref_pubmed", "28034324", "protein_xref_entrez", "673" ], [ "P18887-1", "Association of XRCC1 gene polymorphisms and pancreatic cancer risk in a Chinese population.", "Genetics and molecular research : GMR", "2016 Jun 3", "Wang LJ, Wang HT, Wang XX", "protein_xref_pubmed", "27323136", "protein_xref_entrez", "7515" ], [ "P15056-1", "False-negative BRAF V600E mutation results on fine-needle aspiration cytology of papillary thyroid carcinoma.", "World journal of surgical oncology", "2017 Nov 13", "Paek SH, Kim BS, Kang KH, Kim HS", "protein_xref_pubmed", "29132392", "protein_xref_entrez", "673" ], [ "P09211-1", "Glutathione S-transferase P1 Ile105Val polymorphism is associated with haematological toxicity in elderly rectal cancer patients receiving preoperative chemoradiotherapy.", "Drugs & aging", "2008", "Agostini M, Pasetto LM, Pucciarelli S, Terrazzino S, Ambrosi A, Bedin C, Galdi F, Friso ML, Mescoli C, Urso E, Leon A, Lise M, Nitti D", "protein_xref_pubmed", "18540691", "protein_xref_entrez", "2950" ], [ "P09874-1", "Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.", "Carcinogenesis", "2008 Nov", "Smith TR, Levine EA, Freimanis RI, Akman SA, Allen GO, Hoang KN, Liu-Mares W, Hu JJ", "protein_xref_pubmed", "18701435", "protein_xref_entrez", "142" ], [ "P00533-1", "Activity of panitumumab alone or with chemotherapy in non-small cell lung carcinoma cell lines expressing mutant epidermal growth factor receptor.", "Molecular cancer therapeutics", "2009 Jun", "Freeman DJ, Bush T, Ogbagabriel S, Belmontes B, Juan T, Plewa C, Van G, Johnson C, Radinsky R", "protein_xref_pubmed", "19509246", "protein_xref_entrez", "1956" ], [ "P04049-1", "The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.", "American journal of medical genetics. Part A", "2018 Feb", "Harms FL, Alawi M, Amor DJ, Tan TY, Cuturilo G, Lissewski C, Brinkmann J, Schanze D, Kutsche K, Zenker M", "protein_xref_pubmed", "29271604", "protein_xref_entrez", "5894" ], [ "P18887-1", "Polymorphisms of the XRCC1 DNA repair gene in head and neck cancer.", "Pathology oncology research : POR", "2005", "Demokan S, Demir D, Suoglu Y, Kiyak E, Akar U, Dalay N", "protein_xref_pubmed", "15800678", "protein_xref_entrez", "7515" ], [ "P15056-1", "TERT promoter mutations and their association with BRAF V600E mutation and aggressive clinicopathological characteristics of thyroid cancer.", "The Journal of clinical endocrinology and metabolism", "2014 Jun", "Liu X, Qu S, Liu R, Sheng C, Shi X, Zhu G, Murugan AK, Guan H, Yu H, Wang Y, Sun H, Shan Z, Teng W, Xing M", "protein_xref_pubmed", "24617711", "protein_xref_entrez", "673" ], [ "O15527-1", "The hOGG1 Ser326Cys polymorphism and prostate cancer risk: a meta-analysis of 2584 cases and 3234 controls.", "BMC cancer", "2011 Sep 13", "Zhang H, Xu Y, Zhang Z, Li L", "protein_xref_pubmed", "21914193", "protein_xref_entrez", "4968" ], [ "P18887-1", "The XRCC1 Arg194Trp and Arg280His polymorphisms in head and neck cancer susceptibility: a meta-analysis.", "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "2014 Nov", "Zhou X, Gu L, Zeng Y, Wei L, Ying M, Wang N, Su C, Wang Y, Liu C", "protein_xref_pubmed", "25062722", "protein_xref_entrez", "7515" ], [ "P04637-1", "p53 dominant-negative mutant R273H promotes invasion and migration of human endometrial cancer HHUA cells.", "Clinical & experimental metastasis", "2007", "Dong P, Tada M, Hamada J, Nakamura A, Moriuchi T, Sakuragi N", "protein_xref_pubmed", "17636407", "protein_xref_entrez", "7157" ], [ "P00533-1", "Partial Response to Platinum Doublets in Refractory EGFR-Positive Non-Small Cell Lung Cancer Patients after RRx-001: Evidence of Episensitization.", "Case reports in oncology", "2016 Jan-Apr", "Carter CA, Oronsky BT, Caroen SZ, Scicinski JJ, Cabrales P, Reid T, Degesys A, Jenkins J, Brzezniak C", "protein_xref_pubmed", "26933421", "protein_xref_entrez", "1956" ], [ "Q9HAW7-1", "Genetic link of hepatocellular carcinoma with polymorphisms of the UDP-glucuronosyltransferase UGT1A7 gene.", "Gastroenterology", "2001 Nov", "Vogel A, Kneip S, Barut A, Ehmer U, Tukey RH, Manns MP, Strassburg CP", "protein_xref_pubmed", "11677206", "protein_xref_entrez", "54577" ], [ "O60674-1", "[CSF3R, ASXL1,SETBP1, JAK2 V617F and CALR mutations in chronic neutrophilic leukemia].", "Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi", "2014 Dec", "Cui Y, Li B, Jiang Q, Xu Z, Qin T, Zhang P, Zhang Y, Xiao Z", "protein_xref_pubmed", "25543699", "protein_xref_entrez", "3717" ], [ "O60934-1", "Molecular genetic analysis of NBS1 in German melanoma patients.", "Melanoma research", "2007 Apr", "Meyer P, Stapelmann H, Frank B, Varon R, Burwinkel B, Schmitt C, Boettger MB, Klaes R, Sperling K, Hemminki K, Kammerer S", "protein_xref_pubmed", "17496786", "protein_xref_entrez", "4683" ], [ "P00533-1", "Treatment rationale and design of the SPIRAL study: A phase II trial of osimertinib in elderly epidermal growth factor receptor T790M-positive nonsmall-cell lung cancer patients who progressed during prior EGFR-TKI treatment.", "Medicine", "2018 Jun", "Uchino J, Nakao A, Tamiya N, Kaneko Y, Yamada T, Yoshimura K, Fujita M, Takayama K", "protein_xref_pubmed", "29879078", "protein_xref_entrez", "1956" ], [ "O60674-1", "Ischemic stroke with essential thrombocythemia: a case series.", "Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association", "2015 Apr", "Kato Y, Hayashi T, Sehara Y, Deguchi I, Fukuoka T, Maruyama H, Horiuchi Y, Nagamine Y, Sano H, Tanahashi N", "protein_xref_pubmed", "25724238", "protein_xref_entrez", "3717" ], [ "P00519-1", "Rapid Evolution to Blast Crisis Associated with a Q252H ABL1 Kinase Domain Mutation in e19a2 BCR-ABL1 Chronic Myeloid Leukaemia.", "Case reports in hematology", "2013", "McCarron SL, Maher K, Kelly J, Ryan MF, Langabeer SE", "protein_xref_pubmed", "24109527", "protein_xref_entrez", "25" ], [ "P15056-1", "Large-scale label-free comparative proteomics analysis of polo-like kinase 1 inhibition via the small-molecule inhibitor BI 6727 (Volasertib) in BRAF(V600E) mutant melanoma cells.", "Journal of proteome research", "2014 Nov 7", "Cholewa BD, Pellitteri-Hahn MC, Scarlett CO, Ahmad N", "protein_xref_pubmed", "24884503", "protein_xref_entrez", "673" ], [ "Q9UIF7-1", "Missense polymorphisms in the adenomatous polyposis coli gene and colorectal cancer risk.", "Diseases of the colon and rectum", "2008 Oct", "Cleary SP, Kim H, Croitoru ME, Redston M, Knight JA, Gallinger S, Gryfe R", "protein_xref_pubmed", "18612690", "protein_xref_entrez", "4595" ], [ "O60674-1", "JAK2 V617F tyrosine kinase mutation in cell lines derived from myeloproliferative disorders.", "Leukemia", "2006 Mar", "Quentmeier H, MacLeod RA, Zaborski M, Drexler HG", "protein_xref_pubmed", "16408098", "protein_xref_entrez", "3717" ], [ "P18887-1", "XRCC1 Arg399Gln and Arg194Trp polymorphisms in prostate cancer risk: a meta-analysis.", "Prostate cancer and prostatic diseases", "2011 Sep", "Wei B, Zhou Y, Xu Z, Ruan J, Zhu M, Jin K, Zhou D, Hu Q, Wang Q, Wang Z, Yan Z", "protein_xref_pubmed", "21647176", "protein_xref_entrez", "7515" ], [ "P10721-1", "Imatinib in the management of multiple gastrointestinal stromal tumors associated with a germline KIT K642E mutation.", "Archives of pathology & laboratory medicine", "2007 Sep", "Graham J, Debiec-Rychter M, Corless CL, Reid R, Davidson R, White JD", "protein_xref_pubmed", "17824795", "protein_xref_entrez", "3815" ], [ "O60674-1", "Detection of acquired Janus kinase 2 V617F mutation in myeloproliferative disorders by fluorescence melting curve analysis.", "Molecular diagnosis & therapy", "2006", "Reading NS, Lim MS, Elenitoba-Johnson KS", "protein_xref_pubmed", "17022694", "protein_xref_entrez", "3717" ], [ "P15056-1", "[BRAF V600E mutation in papillary thyroid carcinoma: prevalence and detection in fine needle aspiration specimens].", "Annales de pathologie", "2010 Aug", "Dujardin F, Pages JC, Collin C, de Calan L, Lecomte P, Guyetant S", "protein_xref_pubmed", "20837233", "protein_xref_entrez", "673" ], [ "P15056-1", "Metastatic BRAF K601E-mutated melanoma reaches complete response to MEK inhibitor trametinib administered for over 36 months.", "Experimental hematology & oncology", "2017", "Marconcini R, Galli L, Antonuzzo A, Bursi S, Roncella C, Fontanini G, Sensi E, Falcone A", "protein_xref_pubmed", "28344857", "protein_xref_entrez", "673" ], [ "P18074-1", "DNA repair genes XPC, XPD, XRCC1, and XRCC3 are associated with risk and survival of squamous cell carcinoma of the head and neck.", "DNA repair", "2015 Jul", "Farnebo L, Stjernstrom A, Fredrikson M, Ansell A, Garvin S, Thunell LK", "protein_xref_pubmed", "26001739", "protein_xref_entrez", "2068" ], [ "P15056-1", "BRAF(V600E) mutation analysis of liquid-based preparation-processed fine needle aspiration sample improves the diagnostic rate of papillary thyroid carcinoma.", "Human pathology", "2012 Jan", "Chang H, Lee H, Yoon SO, Kim H, Kim A, Kim BH", "protein_xref_pubmed", "21774961", "protein_xref_entrez", "673" ], [ "Q9UNQ0-1", "Breast cancer resistance protein (BCRP)-mediated glyburide transport: effect of the C421A/Q141K BCRP single-nucleotide polymorphism.", "Drug metabolism and disposition: the biological fate of chemicals", "2010 May", "Pollex EK, Anger G, Hutson J, Koren G, Piquette-Miller M", "protein_xref_pubmed", "20159988", "protein_xref_entrez", "9429" ], [ "P00533-1", "Continuous exposure of non-small cell lung cancer cells with wild-type EGFR to an inhibitor of EGFR tyrosine kinase induces chemoresistance by activating STAT3.", "International journal of oncology", "2015 May", "Tang J, Guo F, Du Y, Liu X, Qin Q, Liu X, Yin T, Jiang L, Wang Y", "protein_xref_pubmed", "25695284", "protein_xref_entrez", "1956" ], [ "Q01726-1", "The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population.", "Experimental dermatology", "2009 Feb", "Brudnik U, Branicki W, Wojas-Pelc A, Kanas P", "protein_xref_pubmed", "18637131", "protein_xref_entrez", "4157" ], [ "P15056-1", "The response of cancers to BRAF inhibition underscores the importance of cancer systems biology.", "Science signaling", "2012 Oct 16", "Stites EC", "protein_xref_pubmed", "23074264", "protein_xref_entrez", "673" ], [ "P15056-1", "Relationships between transporter expression and the status of BRAF V600E mutation and F-18 FDG uptake in papillary thyroid carcinomas.", "Endocrine research", "2016", "Yoon M, Jung SJ, Kim TH, Ha TK, Urm SH, Park JS, Lee SM, Bae SK", "protein_xref_pubmed", "26513490", "protein_xref_entrez", "673" ], [ "O60674-1", "Activated Jak2 with the V617F point mutation promotes G1/S phase transition.", "The Journal of biological chemistry", "2006 Jun 30", "Walz C, Crowley BJ, Hudon HE, Gramlich JL, Neuberg DS, Podar K, Griffin JD, Sattler M", "protein_xref_pubmed", "16632470", "protein_xref_entrez", "3717" ], [ "Q13501-1", "The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts.", "Molecular endocrinology (Baltimore, Md.)", "2009 Oct", "Chamoux E, Couture J, Bisson M, Morissette J, Brown JP, Roux S", "protein_xref_pubmed", "19589897", "protein_xref_entrez", "8878" ], [ "O60674-1", "JAK2 V617F gene mutation in the laboratory work-up of myeloproliferative disorders: experience of a major referral center in Lebanon.", "Genetic testing and molecular biomarkers", "2011 Apr", "Mahfouz RA, Hoteit R, Salem Z, Bazarbachi A, Mugharbel A, Farhat F, Ziyadeh A, Ibrahim A, Taher A", "protein_xref_pubmed", "21198321", "protein_xref_entrez", "3717" ], [ "P42771-1", "A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.", "British journal of cancer", "2001 Aug 17", "Goldstein AM, Liu L, Shennan MG, Hogg D, Tucker MA, Struewing JP", "protein_xref_pubmed", "11506491", "protein_xref_entrez", "1029" ], [ "P43146-1", "No association between the Arg201Gly polymorphism of the DCC gene and colorectal cancer.", "Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver", "2004 Dec", "de Jong MM, te Meerman GJ, van der Graaf WT, de Vries EG, Nolte IM, Mulder MJ, Bruinenberg M, van der Steege G, Schaapveld M, Sijmons RH, Hofstra RM, Kleibeuker JH", "protein_xref_pubmed", "15646429", "protein_xref_entrez", "1630" ], [ "P01116-1", "Stat3/Socs3 activation by IL-6 transsignaling promotes progression of pancreatic intraepithelial neoplasia and development of pancreatic cancer.", "Cancer cell", "2011 Apr 12", "Lesina M, Kurkowski MU, Ludes K, Rose-John S, Treiber M, Kloppel G, Yoshimura A, Reindl W, Sipos B, Akira S, Schmid RM, Algul H", "protein_xref_pubmed", "21481788", "protein_xref_entrez", "3845" ], [ "O60674-1", "The Janus Kinase 2 (JAK2) V617F mutation in hematological malignancies in Mexico.", "Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion", "2006 Sep-Oct", "Ruiz-Arguelles GJ, Garces-Eisele J, Reyes-Nunez V, Ruiz-Delgado GJ, Navarro-Vazquez M, Gonzalez-Carrillo ML", "protein_xref_pubmed", "17408106", "protein_xref_entrez", "3717" ] ] }, "readme": "Name\n - Human Literature Mutations Citations\n\nVersion\n - v-2.3.1\n\nCreated on\n - \n\nModified on\n - \n\nCreated by\n - Jeet Vora [jeetvora@gwu.edu], Karina Martinez [karinamartinez@gwu.edu], Robel Kahsay [rykahsay@gwu.edu], Jingyue Wu [jingyue.wu@email.gwu.edu]\n\nAuthors\n - \n\nChecksum\n - \n\nUsability Domain\n - The Human Literature Mutations Citations contains details of the publication present in the dataset Human Literature Mutations https://data.glygen.org/GLY_000463.\n\nDescription Domain\n Keywords\n - Literature\n - Mutation\n - Publications\n - Citations\n - PubMed\n\n Pipeline Steps\n - Step-1: The script extracts the PMID from the dataset and uses the Entrez API to retrieve the publication details and extracts in a csv dataset\n\nExecution Domain\n Scripts - https://github.com/glygener/glygen-backend-integration/blob/master/dataset-maker/make-protein-dataset.py\n\n\n Software Prerequisites\n Name: Python\n Version: 2.7.5\n URI: https://www.python.org/download/releases/2.7.5/\n\nI/O Domain\n Input Subdomain\n Name: human_protein_mutation_literature.csv\n URI: https:/data.glygen.org/ln2releases/data/v-2.3.1/reviewed/human_protein_mutation_literature.csv\n Output Subdomain\n Name: human_protein_citations_mutation_literature.csv\n URI: https:/data.glygen.org/ln2releases/data/v-2.3.1/reviewed/human_protein_citations_mutation_literature.csv\n Name: human_protein_citations_mutation_literature.stat.csv\n URI: https:/data.glygen.org/ln2releases/data/v-2.3.1/reviewed/human_protein_citations_mutation_literature.stat.csv\n\nFields\n Name: \"uniprotkb_canonical_ac\"\n Description: \"\"\n Unique Values: \"459\"\n Name: \"title\"\n Description: \"Title of the published article in the journal\"\n Unique Values: \"4549\"\n Name: \"journal_name\"\n Description: \"The name of the journal in which the article is published\"\n Unique Values: \"883\"\n Name: \"publication_date\"\n Description: \"Contains the full date on which the issue of the journal was published. Sourced from MEDLINE/PubMed data element(fields) description.\"\n Unique Values: \"1256\"\n Name: \"authors\"\n Description: \"NA\"\n Unique Values: \"4512\"\n Name: \"xref_key\"\n Description: \"Source key associated to the xref_id\"\n Unique Values: \"1\"\n Name: \"xref_id\"\n Description: \"ID of the X-ref\"\n Unique Values: \"4560\"\n Name: \"src_xref_key\"\n Description: \"Source Xref key\"\n Unique Values: \"1\"\n Name: \"src_xref_id\"\n Description: \"Source X-ref ID\"\n Unique Values: \"463\"", "downloadurl": "/ln2data/releases/data/v-2.3.1/reviewed/human_protein_citations_mutation_literature.csv" }