Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.G289S
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HSD17B3

NM_000197.2:p.G289S

Associated Papers

Analyses of Molecular Characteristics and Enzymatic Activities of Ovine HSD17B3.

Islam MS et al.

Animals : an Open Access Journal From Mdpi, 2021

Polymorphisms in androgen metabolism genes with serum testosterone levels and prognosis in androgen-deprivation therapy.

Shiota M et al.

Urologic Oncology, 2020

Evaluation of 17β-hydroxysteroid dehydrogenase activity using androgen receptor-mediated transactivation.

Yazawa T et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2020

Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.

Sproll P et al.

Molecular Genetics & Genomic Medicine, 2018

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › a__Freq_TP094

Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients.

Engeli RT et al.

The Journal of Sexual Medicine, 2017

Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect.

Ben Rhouma B et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2017

Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency.

Hassan HA et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2016

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyB

Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients.

Kon M et al.

Human Reproduction (oxford, England), 2015

Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency.

Castro CC et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2012

Androgen metabolism and JAK/STAT pathway genes and prostate cancer risk.

Kwon EM et al.

Cancer Epidemiology, 2012

Functional analyses of endometriosis-related polymorphisms in the estrogen synthesis and metabolism-related genes.

Wang HS et al.

Plos One, 2012

Genetic polymorphisms of 17 β-hydroxysteroid dehydrogenase 3 and the risk of hypospadias.

Sata F et al.

The Journal of Sexual Medicine, 2010

The clinical and molecular heterogeneity of 17βHSD-3 enzyme deficiency.

George MM et al.

Hormone Research in Paediatrics, 2010

Polymorphisms in estrogen biosynthesis and metabolism-related genes, ionizing radiation exposure, and risk of breast cancer among US radiologic technologists.

Sigurdson AJ et al.

Breast Cancer Research and Treatment, 2009

17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence.

Bertelloni S et al.

Journal of Endocrinological Investigation, 2009

Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China.

Park SK et al.

Carcinogenesis, 2009

The interaction of CYP3A5 polymorphisms along the androgen metabolism pathway in prostate cancer.

Vaarala MH et al.

International Journal of Cancer, 2008

17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite.

Mains LM et al.

Fertility and Sterility, 2008

Clinical, endocrine, and molecular findings in 17beta-hydroxysteroid dehydrogenase type 3 deficiency.

Faienza MF et al.

Journal of Endocrinological Investigation, 2008

Variant in sex hormone-binding globulin gene and the risk of prostate cancer.

Berndt SI et al.

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

Systematic replication study of reported genetic associations in prostate cancer: Strong support for genetic variation in the androgen pathway.

Lindström S et al.

The Prostate, 2006

Profiling genetic variation along the androgen biosynthesis and metabolism pathways implicates several single nucleotide polymorphisms and their combinations as prostate cancer risk factors.

Mononen N et al.

Cancer Research, 2006

Androgen metabolic genes in prostate cancer predisposition and progression.

Makridakis NM et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2005

An evolutionary perspective on single-nucleotide polymorphism screening in molecular cancer epidemiology.

Zhu Y et al.

Cancer Research, 2004

Association of the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian men.

Margiotti K et al.

The Prostate, 2002

17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations.

Boehmer AL et al.

The Journal of Clinical Endocrinology and Metabolism, 1999

Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3).

Moghrabi N et al.

The Journal of Clinical Endocrinology and Metabolism, 1998

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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."