Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.R68W
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BMP15

NM_005448.2:p.R68W

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Exploring the functional and structural impacts of high-risk nsSNPs in human BMP15 and GDF9 genes associated with premature ovarian failure: an in silico approach.

Navapour L et al.

Journal of Biomolecular Structure & Dynamics, 2025

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

Hervé B et al.

Reproductive Sciences (thousand Oaks, Calif.), 2025

A Novel Homozygous BMP15 Mutation Causes Ovarian Dysgenesis and Primary Amenorrhea.

Cohen A et al.

Journal of the Endocrine Society, 2025

Parsing Genetic and Autoimmune Etiology in Premature Ovarian Insufficiency.

Nauwynck E et al.

Jcem Case Reports, 2023

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

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.

Heddar A et al.

Ebiomedicine, 2022

36099812 (PubMed )
Supplement: mmc3.xlsx › Sheet1

High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort.

Crespo RP et al.

Journal of the Endocrine Society, 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

Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.

Rossetti R et al.

Frontiers in Endocrinology, 2021

Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.

Krausz C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32741963 (PubMed )
Supplement: NIHMS1619687-supplement-Supplementary_Table_2.xlsx › Hoja1

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

Using sheep genomes from diverse U.S. breeds to identify missense variants in genes affecting fecundity.

Heaton MP et al.

F1000research, 2017

Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing.

Laissue P

Molecular and Cellular Endocrinology, 2015

BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure.

Fonseca DJ et al.

Reproductive Biomedicine Online, 2014

Genes involved in human premature ovarian failure.

Persani L et al.

Journal of Molecular Endocrinology, 2010

Impaired production of BMP-15 and GDF-9 mature proteins derived from proproteins WITH mutations in the proregion.

Inagaki K et al.

Molecular and Cellular Endocrinology, 2010

BMP15 and premature ovarian failure: causal mutations, variants, polymorphisms?

Lakhal B et al.

Clinical Endocrinology, 2010

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

Rossetti R et al.

Human Mutation, 2009

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

Laissue P et al.

Molecular and Cellular Endocrinology, 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

Genetics of primary ovarian insufficiency: new developments and opportunities.

Qin Y et al.

Human Reproduction Update, 0

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