Varaico: Literature-Extracted Genetic Variants

Gene:TGFB1
Variant:p.T263I
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TGFB1

NM_000660.7:p.T263I

Associated Papers

Association of genotypes at single-nucleotide polymorphisms in IL-28B, TGF-β1, TP53, MTHFR and GSTP1 gene and their combinations with ischemic stroke: A case-control study.

Shakoor S et al.

Ibro Neuroscience Reports, 2025

Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.

He Q et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

Comparative analysis of histopathological parameters, genome-wide copy number alterations, and variants in genes involved in cell cycle regulation in chordomas of the skull base and sacrum.

Salle H et al.

Journal of Neuropathology and Experimental Neurology, 2023

The Impact of Genetic Variability of TGF-Beta Signaling Biomarkers in Major Craniofacial Syndromes.

Yapijakis C et al.

Advances in Experimental Medicine and Biology, 2023

Genetic susceptibility of bladder cancer in the Lebanese population.

Kourie HR et al.

Bmc Medical Genomics, 2022

36253817 (PubMed )
Supplement: 12920_2022_1372_MOESM1_ESM.xlsx › sheet_1

Case-Control Genotyping of the c.788C>T Variant of Transforming Growth Factor-Beta 1 Gene in Otosclerosis in the South Indian Population.

Kale D et al.

The Journal of International Advanced Otology, 2022

A functional TGFB1 polymorphism in the donor associates with long-term graft survival after kidney transplantation.

Poppelaars F et al.

Clinical Kidney Journal, 2022

Genetic dominance of transforming growth factor-β1 polymorphisms in chronic liver disease.

Cai X et al.

Frontiers in Immunology, 2022

Clinical utility of TGFB1 and its receptors (TGFBR1 and TGFBR2) in thyroid nodules: evaluation based on single nucleotide polymorphisms and mRNA analysis.

Peres KC et al.

Archives of Endocrinology and Metabolism, 2021

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › Oncogenes

Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.

Winn JS et al.

International Journal of Molecular Sciences, 2020

32075053 (PubMed )
Supplement: ijms-21-01290-s001.zip › ijms-703397_SI › Supplementary_Table_3.xlsx › Supplementary_Table_2_final

A link between promoter polymorphisms of the transforming growth factor β1 (TGFB1) and TGF-β1 receptor II (TGFBR2) genes and relapsing-remitting multiple sclerosis.

Grigorova A et al.

Folia Neuropathologica, 2020

Transforming growth factor beta 1 polymorphisms and haplotypes associated with breast cancer susceptibility: A case-control study in Tunisian women.

Hadj-Ahmed M et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2019

Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.

Rohan TE et al.

British Journal of Cancer, 2018

29872146 (PubMed )
Supplement: 41416_2018_89_MOESM2_ESM.xls › Table_2a

Evidence of distinct RELN and TGFB1 genetic associations in familial and non-familial otosclerosis in a British population.

Mowat AJ et al.

Human Genetics, 2018

Role of Gene Polymorphisms/Haplotypes and Plasma Level of TGF-β1 in Susceptibility to In-Stent Restenosis Following Coronary Implantation of Bare Metal Stent in Chinese Han Patients.

Chen HJ et al.

International Heart Journal, 2018

Transmission analysis of TGFB1 gene polymorphisms in non-syndromic cleft lip with or without cleft palate.

Raju GT et al.

International Journal of Pediatric Otorhinolaryngology, 2017

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST2

A Comprehensive Meta-analysis of Case-Control Association Studies to Evaluate Polymorphisms Associated with the Risk of Differentiated Thyroid Carcinoma.

Figlioli G et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2016

Whole-exome sequencing of Finnish hereditary breast cancer families.

Määttä K et al.

European Journal of Human Genetics : Ejhg, 2016

Transforming growth factor beta-1 (TGF-β1) gene single nucleotide polymorphisms (SNPs) and susceptibility to pre-eclampsia in Iranian women: A case-control study.

Khani M et al.

Pregnancy Hypertension, 2015

TGF-β1 polymorphisms and familial aggregation of liver cancer in Guangxi, China.

Wan PQ et al.

Genetics and Molecular Research : Gmr, 2015

Correlation between SNP genotypes and periodontitis in Japanese type II diabetic patients: a preliminary study.

Damrongrungruang T et al.

Odontology, 2015

Association of TGF-β1 -509C/T, +869T/C, and +915G/C polymorphisms with periodontitis susceptibility.

Huang J et al.

Oral Diseases, 2015

Genetic association analysis in a clinically and histologically confirmed otosclerosis population confirms association with the TGFB1 gene but suggests an association of the RELN gene with a clinically indistinguishable otosclerosis-like phenotype.

Sommen M et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2014

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

Dasari S et al.

Journal of Proteome Research, 2014

24650283 (PubMed )
Supplement: pr4011475_si_001.pdf

Transforming growth factor beta1 (TGFβ1) polymorphisms and breast cancer risk.

Amani D et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2014

Genetic association and gene expression profiles of TGFB1 and the contribution of TGFB1 to otosclerosis susceptibility.

Priyadarshi S et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2013

A comprehensive network and pathway analysis of human deafness genes.

Stamatiou GA et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2013

TheTGFB1 functional polymorphism rs1800469 and susceptibility to atrial fibrillation in two Chinese Han populations.

Zheng W et al.

Plos One, 2013

TGFB1 genetic polymorphisms and coronary heart disease risk: a meta-analysis.

Lu Y et al.

Bmc Medical Genetics, 2012

COL1A1 association and otosclerosis: a meta-analysis.

Schrauwen I et al.

American Journal of Medical Genetics. Part A, 2012

The functional class evaluated in rheumatoid arthritis is associated with soluble TGF-β1 serum levels but not with G915C (Arg25Pro) TGF-β1 polymorphism.

Muñoz-Valle JF et al.

Rheumatology International, 2012

Association of COL1A1 and TGFB1 polymorphisms with otosclerosis in a Tunisian population.

Khalfallah A et al.

Annals of Human Genetics, 2011

Polymorphisms of transforming growth factor-β1 associated with increased risk of gastric cardia adenocarcinoma in north China.

Guo W et al.

International Journal of Immunogenetics, 2011

Otosclerosis.

Ealy M et al.

Advances in Oto-rhino-laryngology, 2011

TGF-β1 869T/C polymorphism and ischemic stroke: sex difference in Chinese.

Tao HM et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2010

Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia.

Khalfallah A et al.

Annals of Human Genetics, 2010

[Genetic basis for skeletal disease. Genetic factors of osteoarthritis with particular reference to skeletal dysplasia].

Ikegawa S

Clinical Calcium, 2010

The etiology of otosclerosis: a combination of genes and environment.

Schrauwen I et al.

The Laryngoscope, 2010

No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population.

Schrauwen I et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2009

Lack of association between TGF-beta-1 genotypes and microalbuminuria in essential hypertensive men.

Dell'Omo G et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009

Detection of rare nonsynonymous variants in TGFB1 in otosclerosis patients.

Thys M et al.

Annals of Human Genetics, 2009

A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.

Schrauwen I et al.

American Journal of Human Genetics, 2009

TGFB1 and TGFBR1 polymorphic variants in relationship to bladder cancer risk and prognosis.

Castillejo A et al.

International Journal of Cancer, 2009

Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.

Sigurdson AJ et al.

Radiation Research, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."