Varaico: Literature-Extracted Genetic Variants

Gene:AMH
Variant:p.Q496H
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AMH

NM_000479.5:p.Q496H

Associated Papers

A novel AMH variant at the prehelix loop impairs the binding to AMHR2 and causes persistent Müllerian duct syndrome.

Du Q et al.

Asian Journal of Andrology, 2024

Persistent Müllerian duct syndrome in an assisted reproductive patient: a novel variant impairs the biosynthesis and secretion of anti-Müllerian hormone (AMH).

Du Q et al.

Asian Journal of Andrology, 2023

Two novel AMHR2 gene variants in monozygotic twins with persistent Müllerian duct syndrome: A case report and functional study.

Chen H et al.

Molecular Genetics & Genomic Medicine, 2022

Structure of AMH bound to AMHR2 provides insight into a unique signaling pair in the TGF-β family.

Hart KN et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases.

Picard JY et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2017

Analysis of anti-Müllerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Müllerian duct syndrome.

Nishi MY et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2012

Mutations of the anti-mullerian hormone gene in patients with persistent mullerian duct syndrome: biosynthesis, secretion, and processing of the abnormal proteins and analysis using a three-dimensional model.

Belville C et al.

Molecular Endocrinology (baltimore, Md.), 2004

[Genetics and molecular pathology of anti-Mullerian hormone and its receptor].

Picard JY et al.

Journal De La Societe De Biologie, 2002

AMH and AMH receptor defects in persistent Müllerian duct syndrome.

Josso N et al.

Human Reproduction Update, 0

Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients.

Tian HJ et al.

Asian Journal of Andrology, 0

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