Varaico: Literature-Extracted Genetic Variants

Gene:INHA
Variant:p.A257T
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INHA

NM_002191.4:p.A257T

Associated Papers

The genetic basis of male and female infertility.

Ioannou D et al.

Systems Biology in Reproductive Medicine, 2025

Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.

Veneziano C et al.

Frontiers in Endocrinology, 2025

41458559 (PubMed )
Supplement: Table4.xlsx › sheet1

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM17_ESM.xlsx › S17

Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume.

Arslan Ates E et al.

European Journal of Endocrinology, 2022

Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.

Bresadola L et al.

International Journal of Molecular Sciences, 2021

34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations

Association of polymorphism c.-124G>A and c.-16 C>T in the promoter region of human INHA gene with altered sperm parameters; A pilot study.

Rafaqat W et al.

International Journal of Clinical Practice, 2020

An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes.

Alvarez-Mora MI et al.

Clinical Genetics, 2020

Variations in the inhibin gene in Kashmiri women with primary ovarian insufficiency.

Zargar MH et al.

Human Fertility (cambridge, England), 2020

The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review.

Venturella R et al.

International Journal of Fertility & Sterility, 2019

Extracting Complementary Insights from Molecular Phenotypes for Prioritization of Disease-Associated Mutations.

Wierbowski SD et al.

Current Opinion in Systems Biology, 2018

Genetics of primary ovarian insufficiency.

Rossetti R et al.

Clinical Genetics, 2017

Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum.

Tucker EJ et al.

Endocrine Reviews, 2016

Analysis of protein-coding genetic variation in 60,706 humans.

Lek M et al.

Nature, 2016

27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table19.xlsx › SI_Table_19

A new insertion/deletion fragment polymorphism of inhibin-α gene associated with follicular cysts in Large White sows.

Li W et al.

The Journal of Veterinary Medical Science, 2016

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.

Day FR et al.

Nature Genetics, 2015

26414677 (PubMed )
Supplement: NIHMS64932-supplement-Supplementary_Tables.xlsx › S14_MAGENTA_cust._POI_

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC1_ERR166303

The genetics of premature ovarian failure: current perspectives.

Chapman C et al.

International Journal of Women's Health, 2015

Gene variation and premature ovarian failure: a meta-analysis.

Pu D et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2014

Germline mutations of inhibins in early-onset ovarian epithelial tumors.

Tournier I et al.

Human Mutation, 2014

24302632 (PubMed )
Supplement: humu0035-0294-SD1.pdf

Association of inhibin α gene promoter polymorphisms with risk of idiopathic primary ovarian insufficiency in Korean women.

Rah H et al.

Maturitas, 2014

Inhibin alpha-subunit (INHA) expression in adrenocortical cancer is linked to genetic and epigenetic INHA promoter variation.

Hofland J et al.

Plos One, 2014

Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.

Albrechtsen A et al.

Diabetologia, 2013

23160641 (PubMed )
Supplement: 125_2012_2756_MOESM26_ESM.pdf

Mutations in inhibin and activin genes associated with human disease.

Shelling AN

Molecular and Cellular Endocrinology, 2012

Inhibin α gene promoter polymorphisms in Korean women with idiopathic premature ovarian failure.

Yoon SH et al.

Human Reproduction (oxford, England), 2012

Inhibin α-subunit N terminus interacts with activin type IB receptor to disrupt activin signaling.

Zhu J et al.

The Journal of Biological Chemistry, 2012

Haplotype and mutation analysis of the TGFBR3 gene in Chinese women with idiopathic premature ovarian failure.

Qin CR et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2012

Relationship between inhibin-α gene polymorphisms and premature ovarian failure in Korean women.

Kim H et al.

Menopause (new York, N.y.), 2011

An MspI polymorphism in the inhibin alpha gene and its associations with superovulation traits in Chinese Holstein cows.

Tang KQ et al.

Molecular Biology Reports, 2011

Genes involved in human premature ovarian failure.

Persani L et al.

Journal of Molecular Endocrinology, 2010

Premature ovarian failure.

Shelling AN

Reproduction (cambridge, England), 2010

Chromosomal abnormalities in women with premature ovarian failure.

Artini PG et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2010

Premature ovarian failure from current perspective.

Kokcu A

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2010

Mutational analysis of inhibin alpha gene revealed three novel variations in Indian women with premature ovarian failure.

Prakash GJ et al.

Fertility and Sterility, 2010

Genes governing premature ovarian failure.

Dixit H et al.

Reproductive Biomedicine Online, 2010

Comprehensive genetic and mutation analysis of familial dementia with Lewy bodies linked to 2q35-q36.

Meeus B et al.

Journal of Alzheimer's Disease : Jad, 2010

20164589 (PubMed )
Supplement: sj-pdf-1-alz-10.3233_jad-2010-1356.pdf

Inhibin alpha gene and susceptibility to premature ovarian failure: a data synthesis.

Zintzaras E

Molecular Human Reproduction, 2009

A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure.

Corre T et al.

Human Reproduction (oxford, England), 2009

Investigating the association between inhibin alpha gene promoter polymorphisms and premature ovarian failure.

Woad KJ et al.

Fertility and Sterility, 2009

The 769G>A variant of the inhibin-alpha gene in Korean patients with preeclampsia.

Kim SY et al.

Journal of Endocrinological Investigation, 2008

Genetic variation in the inhibin pathway and risk of testicular germ cell tumors.

Purdue MP et al.

Cancer Research, 2008

Recent advances in the study of genes involved in non-syndromic premature ovarian failure.

Laissue P et al.

Molecular and Cellular Endocrinology, 2008

Functional analysis of the human inhibin alpha subunit variant A257T and its potential role in premature ovarian failure.

Chand AL et al.

Human Reproduction (oxford, England), 2007

Mutational analysis of the betaglycan gene-coding region in susceptibility for ovarian failure.

Dixit H et al.

Human Reproduction (oxford, England), 2006

Expansion of the germline analysis for the INHA gene in Indian women with ovarian failure.

Dixit H et al.

Human Reproduction (oxford, England), 2006

Controversial role of inhibin alpha-subunit gene in the aetiology of premature ovarian failure.

Sundblad V et al.

Human Reproduction (oxford, England), 2006

INHA promoter polymorphisms are associated with premature ovarian failure.

Harris SE et al.

Molecular Human Reproduction, 2005

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