Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.Y235C
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BMP15

NM_005448.2:p.Y235C

Associated Papers

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

Association of Polymorphisms in FSHR, ESR1, and BMP15 with Primary Ovarian Insufficiency and Meta-Analysis.

Lee JY et al.

Diagnostics (basel, Switzerland), 2024

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

Zhu Q 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

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

Afkhami F et al.

Reproductive Biology and Endocrinology : Rb&e, 2022

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.

Jiao SY et al.

Human Reproduction Update, 2021

Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency.

Rossetti R et al.

Human Mutation, 2020

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

Venturella R et al.

International Journal of Fertility & Sterility, 2019

Association of BMP15 and GDF9 variants to premature ovarian insufficiency.

Santos M et al.

Journal of Assisted Reproduction and Genetics, 2019

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4

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

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

Genetics of primary ovarian insufficiency.

Rossetti R et al.

Clinical Genetics, 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

Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyperprolificacy phenotype in sheep.

Demars J et al.

Plos Genetics, 2013

Gene mutations associated with anomalies of human gonad formation.

Bashamboo A et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2013

Positive selection in bone morphogenetic protein 15 targets a natural mutation associated with primary ovarian insufficiency in human.

Auclair S et al.

Plos One, 2013

Mutations in inhibin and activin genes associated with human disease.

Shelling AN

Molecular and Cellular Endocrinology, 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

Invited commentary: a single nucleotide polymorphism in BMP15 is associated with high response to controlled ovarian hyperstimulation.

Abir R et al.

Reproductive Biomedicine Online, 2011

Integral role of GDF-9 and BMP-15 in ovarian function.

Otsuka F et al.

Molecular Reproduction and Development, 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

Genes governing premature ovarian failure.

Dixit H et al.

Reproductive Biomedicine Online, 2010

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

Lakhal B et al.

Clinical Endocrinology, 2010

A novel BMP15 variant, potentially affecting the signal peptide, in a familial case of premature ovarian failure.

Lakhal B et al.

Clinical Endocrinology, 2009

Bone morphogenetic protein 15 (BMP15) acts as a BMP and Wnt inhibitor during early embryogenesis.

Di Pasquale E et al.

The Journal of Biological Chemistry, 2009

Primary Ovarian Insufficiency: X chromosome defects and autoimmunity.

Persani L et al.

Journal of Autoimmunity, 2009

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

Rossetti R et al.

Human Mutation, 2009

Variation in bone morphogenetic protein 15 is not associated with spontaneous human dizygotic twinning.

Zhao ZZ et al.

Human Reproduction (oxford, England), 2008

Association of genetic markers within the BMP15 gene with anovulation and infertility in women with polycystic ovary syndrome.

Gónzalez A et al.

Fertility and Sterility, 2008

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

Laissue P et al.

Molecular and Cellular Endocrinology, 2008

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

A novel mutation in the bone morphogenetic protein 15 gene causing defective protein secretion is associated with both increased ovulation rate and sterility in Lacaune sheep.

Bodin L et al.

Endocrinology, 2007

Mutational analysis of betaglycan/TGF-betaRIII in premature ovarian failure.

Chand AL et al.

Fertility and Sterility, 2007

Sequence variants in exons of the BMP-15 gene in Chinese patients with premature ovarian failure.

Zhang P et al.

Acta Obstetricia Et Gynecologica Scandinavica, 2007

Mutational analysis of BMP15 and GDF9 as candidate genes for premature ovarian failure.

Chand AL et al.

Fertility and Sterility, 2006

Bone morphogenetic protein 15 (BMP15) alleles predict over-response to recombinant follicle stimulation hormone and iatrogenic ovarian hyperstimulation syndrome (OHSS).

Morón FJ et al.

Pharmacogenetics and Genomics, 2006

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

Molecular biology and physiological role of the oocyte factor, BMP-15.

Moore RK et al.

Molecular and Cellular Endocrinology, 2005

Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene.

Di Pasquale E et al.

American Journal of Human Genetics, 2004

Genetics of primary ovarian insufficiency: new developments and opportunities.

Qin Y et al.

Human Reproduction Update, 0

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