Novel STAG3 mutations in a Caucasian family with primary ovarian insufficiency

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Sequencing of a ‘mouse azoospermia’ gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest

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Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency

(2018) Monica M. França et al.   European Journal of Medical Genetics

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(2018) Dan Zhang et al.   HUMAN MOLECULAR GENETICS

Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency

(2018) Ilpo Huhtaniemi et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Essential Role of BRCA2 in Ovarian Development and Function

(2018) Ariella Weinberg-Shukron et al.   NEW ENGLAND JOURNAL OF MEDICINE

Wdr62 is involved in meiotic initiation via activating JNK signaling and associated with POI in humans

(2018) Yang Zhou et al.   PLoS Genetics

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(2018) Tomoko Nishiyama   CURRENT OPINION IN CELL BIOLOGY

A STAG3 missense mutation in two sisters with primary ovarian insufficiency

(2017) Roberto Colombo et al.   European Journal of Obstetrics & Gynecology and Reproductive Biology

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

(2017) Daphné Lehalle et al.   JOURNAL OF MEDICAL GENETICS

A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency

(2017) Baptiste Fouquet et al.   eLife

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

(2016) Karthik A Jagadeesh et al.   NATURE GENETICS

Genetic Interactions Between the Meiosis-Specific Cohesin Components, STAG3, REC8, and RAD21L

(2016) Ayobami Ward et al.   G3-Genes Genomes Genetics

STAG3 truncating variant as the cause of primary ovarian insufficiency

(2015) Polona Le Quesne Stabej et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability

(2014) Michelle A. Wood-Trageser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

STAG3 is a strong candidate gene for male infertility

(2014) Elena Llano et al.   HUMAN MOLECULAR GENETICS

Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability

(2014) Saleh AlAsiri et al.   JOURNAL OF CLINICAL INVESTIGATION

Structure of cohesin subcomplex pinpoints direct shugoshin-Wapl antagonism in centromeric cohesion

(2014) Kodai Hara et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Mutant Cohesin in Premature Ovarian Failure

(2014) Sandrine Caburet et al.   NEW ENGLAND JOURNAL OF MEDICINE

Meiosis-Specific Cohesin Component, Stag3 Is Essential for Maintaining Centromere Chromatid Cohesion, and Required for DNA Repair and Synapsis between Homologous Chromosomes

(2014) Jessica Hopkins et al.   PLoS Genetics

SeaView Version 4: A Multiplatform Graphical User Interface for Sequence Alignment and Phylogenetic Tree Building

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