Varaico: Literature-Extracted Genetic Variants

Gene:TGFB1
Variant:p.P3delFs
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TGFB1

NM_000660.7:p.P3delFs

Associated Papers

Evaluation of Glutathione-S-Transferase P1 Polymorphism and its Relation to Bone Mineral Density in Egyptian Children and Adolescents with Beta-Thalassemia Major.

Ragab SM et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2016

Correlation between TGF-β1 gene 29 T > C single nucleotide polymorphism and clinicopathological characteristics of osteosarcoma.

Wu Y et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2015

TGF-β1-509C/T polymorphism and the risk of ESCC in a Chinese Han population.

Liu HJ et al.

International Journal of Clinical and Experimental Medicine, 2015

The association between the C-509T and T869C polymorphisms of TGF-β1 gene and the risk of asthma: a meta-analysis.

Che Z et al.

Human Immunology, 2014

Association of T869C gene polymorphism of transforming growth factor-β1 with low protein levels and anthropometric indices in osteopenia/osteoporosis postmenopausal Thai women.

Utennam D et al.

Genetics and Molecular Research : Gmr, 2012

Polymorphisms in the ALOX12 gene and osteoporosis.

Harsløf T et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2011

Association of the transforming growth factor ß1 promoter polymorphism, C-509T, with smoking status and survival in advanced non-small cell lung cancer.

Togashi Y et al.

Oncology Reports, 2011

Clinical parameters of inflammatory bowel disease in children do not correlate with four common polymorphisms of the transforming growth factor β1 gene.

Liberek A et al.

Acta Biochimica Polonica, 2011

Genetics of osteoporosis.

Ralston SH et al.

Endocrine Reviews, 2010

Association of TGF-beta1 gene polymorphisms in exon1 and blood levels with essential hypertension.

He F et al.

Blood Pressure, 2010

Genotypes and haplotypes of the estrogen receptor genes, but not the retinoblastoma-interacting zinc finger protein 1 gene, are associated with osteoporosis.

Harsløf T et al.

Calcified Tissue International, 2010

Genetics of osteoporosis.

Ralston SH

Annals of the New York Academy of Sciences, 2010

Significant correlation between association of polymorphism in codon 10 of transforming growth factor-beta1 T (29) C with type 1 diabetes and patients with nephropathy disorder.

Jahromi MM et al.

Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2010

Non-synonymous gene polymorphisms in the secretory signal peptide of human TGF-beta1 affect cellular synthesis but not secretion of TGF-beta1.

Mohren S et al.

Biochemical and Biophysical Research Communications, 2009

Haplotypes of promoter and intron 1 polymorphisms in the COLIA1 gene are associated with increased risk of osteoporosis.

Husted LB et al.

Calcified Tissue International, 2009

Transforming growth factor beta1 T29C gene polymorphism and hypertension: relationship with cardiovascular and renal damage.

Argano C et al.

Blood Pressure, 2008

Association of cytokine gene polymorphisms with malignant melanoma in Caucasian population.

Nikolova PN et al.

Cancer Immunology, Immunotherapy : Cii, 2007

Large-scale population-based study shows no association between common polymorphisms of the TGFB1 gene and BMD in women.

McGuigan FE et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2007

Collagen type 1 (COL1A1) Sp1 binding site polymorphism is associated with osteoporotic fractures but not with bone density in post-menopausal women from the Canary Islands: a preliminary study.

Navarro MC et al.

Aging Clinical and Experimental Research, 2007

A case-control investigation of immune function gene polymorphisms and risk of testicular germ cell tumors.

Purdue MP et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2007

Association analysis of the polymorphisms of the VDR gene with bone mineral density and the occurrence of fractures.

Horst-Sikorska W et al.

Journal of Bone and Mineral Metabolism, 2007

Genetic regulation of bone mass and susceptibility to osteoporosis.

Ralston SH et al.

Genes & Development, 2006

TGF-beta1 gene polymorphisms in periodontal diseases.

Atilla G et al.

Clinical Biochemistry, 2006

ALDH2 polymorphisms and bone mineral density in an elderly Japanese population.

Yamaguchi J et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2006

Lack of association between the TGF-beta1 gene polymorphisms and recurrent spontaneous abortion.

Amani D et al.

Journal of Reproductive Immunology, 2005

Transforming growth factor beta-1 (TGFB1) and peak bone mass: association between intragenic polymorphisms and quantitative ultrasound of the heel.

Tzakas P et al.

Bmc Musculoskeletal Disorders, 2005

Susceptibility to ankylosing spondylitis: no evidence for the involvement of transforming growth factor beta 1 (TGFB1) gene polymorphisms.

van der Paardt M et al.

Annals of the Rheumatic Diseases, 2005

Association of estrogen receptor-alpha gene polymorphisms with bone mineral density in postmenopausal Korean women.

Nam HS et al.

Journal of Bone and Mineral Metabolism, 2005

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.

Wallace SE et al.

American Journal of Medical Genetics. Part A, 2004

Evidence for an association of methylene tetrahydrofolate reductase polymorphism C677T and an increased risk of fractures: results from a population-based Danish twin study.

Bathum L et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2004

Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults.

Stoll C et al.

Bmc Medical Genetics, 2004

Transforming growth factor-beta1 gene polymorphisms and bone turnover, bone mineral density and fracture risk in southern Chinese women.

Lau HH et al.

Calcified Tissue International, 2004

The effect of transforming growth factor beta1 gene polymorphisms in ankylosing spondylitis.

Jaakkola E et al.

Rheumatology (oxford, England), 2004

Osteoporosis and transforming growth factor-beta-1 gene polymorphism in Chinese men and women.

Lau EM et al.

Journal of Bone and Mineral Metabolism, 2004

Suggestive linkage of 2p22-25 and 11q12-13 with low bone mineral density at the lumbar spine in the Irish population.

Wynne F et al.

Calcified Tissue International, 2003

Polymorphisms in the transforming growth factor beta 1 gene and osteoporosis.

Langdahl BL et al.

Bone, 2003

Transforming growth factor B1 T29C polymorphism and breast cancer risk in Japanese women.

Hishida A et al.

Breast Cancer (tokyo, Japan), 2003

Linkage disequilibrium between polymorphisms in the human TNFRSF1B gene and their association with bone mass in perimenopausal women.

Albagha OM et al.

Human Molecular Genetics, 2002

Polymorphisms in the osteoprotegerin gene are associated with osteoporotic fractures.

Langdahl BL et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2002

Genetic control of susceptibility to osteoporosis.

Ralston SH

The Journal of Clinical Endocrinology and Metabolism, 2002

A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway.

Watanabe Y et al.

Journal of Human Genetics, 2002

Association of transforming growth factor-beta1 (TGFbeta1) T29 --> C gene polymorphism with bone mineral density (BMD), changes in BMD, and serum concentrations of TGF-beta1 in a population-based sample of postmenopausal german women.

Hinke V et al.

Calcified Tissue International, 2001

Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease.

Campos-Xavier B et al.

Human Genetics, 2001

The loss of Smad3 results in a lower rate of bone formation and osteopenia through dysregulation of osteoblast differentiation and apoptosis.

Borton AJ et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2001

[Genetics of osteoporosis].

Görtz B et al.

Der Orthopade, 2001

A TA repeat polymorphism in the estrogen receptor gene is associated with osteoporotic fractures but polymorphisms in the first exon and intron are not.

Langdahl BL et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2000

Osteoporosis in beta-thalassaemia major patients: analysis of the genetic background.

Perrotta S et al.

British Journal of Haematology, 2000

Association of CTR and COLIA1 alleles with BMD values in peri- and postmenopausal women.

Braga V et al.

Calcified Tissue International, 2000

Association of a T29-->C polymorphism of the transforming growth factor-beta1 gene with genetic susceptibility to myocardial infarction in Japanese.

Yokota M et al.

Circulation, 2000

Microsatellites and intragenic polymorphisms of transforming growth factor beta and platelet-derived growth factor and their receptor genes in Native Americans with systemic sclerosis (scleroderma): a preliminary analysis showing no genetic association.

Zhou X et al.

Arthritis and Rheumatism, 2000

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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."