Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.A180T
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BMP15

NM_005448.2:p.A180T

Associated Papers

From Dominant Assumptions to Recessive Trait: Rethinking BMP15 in Ovarian Dysfunction.

Hervé B et al.

Reproductive Sciences (thousand Oaks, Calif.), 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

Understanding the Mechanisms of Diminished Ovarian Reserve: Insights from Genetic Variants and Regulatory Factors.

Zhu Q et al.

Reproductive Sciences (thousand Oaks, Calif.), 2024

Implication of Novel BMP15 and GDF9 Variants in Unexpected Poor Ovarian Response.

Mehdizadeh A et al.

Reproductive Sciences (thousand Oaks, Calif.), 2024

Screening for causative mutations in ovine BMPR1B and BMP15 genes and their homologous fragments in human.

Zamani P et al.

Journal of Assisted Reproduction and Genetics, 2023

Current understanding of the genomic abnormities in premature ovarian failure: chance for early diagnosis and management.

Yang X et al.

Frontiers in Medicine, 2023

The landscape of genetic variations in non-syndromic primary ovarian insufficiency in the MENA region: a systematic review.

Allouch A et al.

Frontiers in Endocrinology, 2023

Identification of novel biallelic variants in BMP15 in two siblings with premature ovarian insufficiency.

Zhang T et al.

Journal of Assisted Reproduction and Genetics, 2022

Novel bone morphogenetic protein 15 (BMP15) gene variants implicated in premature ovarian insufficiency.

Afkhami F et al.

Reproductive Biology and Endocrinology : Rb&e, 2022

Two novel mutations in exon 2 of bone morphogenetic protein (BMP) 15 gene in Pakistani infertile females.

Faiza H et al.

Saudi Journal of Biological Sciences, 2021

Characterization of a novel mutation V136L in bone morphogenetic protein 15 identified in a woman affected by POI.

Ferrarini E et al.

Journal of Ovarian Research, 2021

High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function.

Bestetti I et al.

Human Reproduction (oxford, England), 2019

30689869 (PubMed )
Supplement: dey389_hr-18-1081.r1_supplementary_table_si.xlsx › SI_Clinical_data

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.

Papuc SM et al.

European Journal of Human Genetics : Ejhg, 2019

30552426 (PubMed )
Supplement: 41431_2018_299_MOESM1_ESM.docx

BMP15 Mutations Associated With Primary Ovarian Insufficiency Reduce Expression, Activity, or Synergy With GDF9.

Patiño LC et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

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

Pu D et al.

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

Ethnic specificity of variants of the ESR1, HK3, BRSK1 genes and the 8q22.3 locus: no association with premature ovarian failure (POF) in Serbian women.

Qin Y et al.

Maturitas, 2014

Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Rodriguez-Flores JL et al.

Human Mutation, 2014

An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation.

Preeprem T et al.

Biodata Mining, 2013

Clinical characteristics and genetic analysis in women with premature ovarian insufficiency.

Ferrarini E et al.

Maturitas, 2013

Genetic aspects of premature ovarian failure: a literature review.

Cordts EB et al.

Archives of Gynecology and Obstetrics, 2011

Genes involved in human premature ovarian failure.

Persani L et al.

Journal of Molecular Endocrinology, 2010

Variants of the BMP15 gene in a cohort of patients with premature ovarian failure.

Tiotiu D et al.

Human Reproduction (oxford, England), 2010

Two distinct regions of latency-associated peptide coordinate stability of the latent transforming growth factor-beta1 complex.

Walton KL et al.

The Journal of Biological Chemistry, 2010

BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein.

Rossetti R et al.

Human Mutation, 2009

BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure.

Ledig S et al.

American Journal of Obstetrics and Gynecology, 2008

Recent developments in identifying genetic determinants of premature ovarian failure.

Skillern A et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2008

Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure.

Di Pasquale E et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

Missense mutations in the BMP15 gene are associated with ovarian failure.

Dixit H et al.

Human Genetics, 2006

Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure.

Laissue P et al.

European Journal of Endocrinology, 2006

Inhibin and premature ovarian failure.

Chand AL et al.

Human Reproduction Update, 0

Genetics of primary ovarian insufficiency: new developments and opportunities.

Qin Y et al.

Human Reproduction Update, 0

BMP15 and GDF9 Gene Mutations in Premature Ovarian Failure.

Kumar R et al.

Journal of Reproduction & Infertility, 0

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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."