Mutant Cohesin in Premature Ovarian Failure - Wikidata - awgldk - TriplyDB

Mutant Cohesin in Premature Ovarian Failure

Mutant Cohesin in Premature Ovarian Failure

http://www.wikidata.org/entity/Q29399144

about

Genetics of the ovarian reserve Genetics of primary ovarian insufficiency: new developments and opportunities Meiosis-specific cohesin component, Stag3 is essential for maintaining centromere chromatid cohesion, and required for DNA repair and synapsis between homologous chromosomes Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene The genetics of premature ovarian failure: current perspectives Insights from exome sequencing for endocrine disorders CSB-PGBD3 Mutations Cause Premature Ovarian Failure MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility STAG3-mediated stabilization of REC8 cohesin complexes promotes chromosome synapsis during meiosis Mutations in MSH5 in primary ovarian insufficiency.Cohesin gene mutations in tumorigenesis: from discovery to clinical significance Meiotic cohesin STAG3 is required for chromosome axis formation and sister chromatid cohesion A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing Genetics of primary ovarian insufficiency: a review Casein Kinase 1 and Phosphorylation of Cohesin Subunit Rec11 (SA3) Promote Meiotic Recombination through Linear Element Formation.Single nucleotide polymorphisms in premature ovarian failure-associated genes in a Chinese Hui population.Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans.STAG3 truncating variant as the cause of primary ovarian insufficiency Genetic Interactions Between the Meiosis-Specific Cohesin Components, STAG3, REC8, and RAD21L.Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis MiR-590 Promotes Transdifferentiation of Porcine and Human Fibroblasts Toward a Cardiomyocyte-Like Fate by Directly Repressing Specificity Protein 1.Genetics of Disorders of Sex Development: The DSD-TRN Experience.Molecular insights into the aetiology of female reproductive ageing.New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing.Genetics of primary ovarian insufficiency.A dominant negative mutation at the ATP binding domain of AMHR2 is associated with a defective anti-Müllerian hormone signaling pathway.Association analysis between HFM1 variation and primary ovarian insufficiency in Chinese women.R-spondin2, a novel target of NOBOX: identification of variants in a cohort of women with primary ovarian insufficiency.Reduced dosage of the chromosome axis factor Red1 selectively disrupts the meiotic recombination checkpoint in Saccharomyces cerevisiae.Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.A common African variant of human connexin 37 is associated with Caucasian primary ovarian insufficiency and has a deleterious effect in vitro.Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.Premature Ovarian Insufficiency - an update on recent advances in understanding and management.Variation analysis of PUM1 gene in Chinese women with primary ovarian insufficiency.Sequence variants of KHDRBS1 as high penetrance susceptibility risks for primary ovarian insufficiency by mis-regulating mRNA alternative splicing.Primary Ovarian Insufficiency and Azospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation.

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P2860

Mutant Cohesin in Premature Ovarian Failure

http://www.wikidata.org/entity/Q29399144

description

2014 nî lūn-bûn

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2014 թուականի Մարտին հրատարակուած գիտական յօդուած

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2014 թվականի մարտին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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Mutant Cohesin in Premature Ovarian Failure

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Mutant Cohesin in Premature Ovarian Failure

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Mutant Cohesin in Premature Ovarian Failure

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Mutant Cohesin in Premature Ovarian Failure

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Mutant Cohesin in Premature Ovarian Failure

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Mutant Cohesin in Premature Ovarian Failure

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The New England Journal of Medicine

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Mutant cohesin in premature ovarian failure

@en

P2093

Daniel Vaiman

http://www.w3.org/2001/XMLSchema#string

Eric Vilain

http://www.w3.org/2001/XMLSchema#string

Jose Luis Barbero

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Kazuhiro Oka

http://www.w3.org/2001/XMLSchema#string

Marc Fellous

http://www.w3.org/2001/XMLSchema#string

Reiner A Veitia

http://www.w3.org/2001/XMLSchema#string

Valerie A Arboleda

http://www.w3.org/2001/XMLSchema#string

Wilbur Harrison

http://www.w3.org/2001/XMLSchema#string

Ziva Ben-Neriah

http://www.w3.org/2001/XMLSchema#string

P2860

STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the Williams-Beuren syndrome deletion

Azoospermia in patients heterozygous for a mutation in SYCP3

Human aneuploidy: mechanisms and new insights into an age-old problem

Shugoshin-2 is essential for the completion of meiosis but not for mitotic cell division in mice

Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers

Genetic association studies in female reproduction: from candidate-gene approaches to genome-wide mapping

Genetic investigation of four meiotic genes in women with premature ovarian failure

Cohesin: a guardian of genome integrity

The cohesin subunit RAD21L functions in meiotic synapsis and exhibits sexual dimorphism in fertility

Meiotic cohesin complexes are essential for the formation of the axial element in mice

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943-949

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scholarly article

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1324557

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10.1056/NEJMOA1309635

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P407

P433

10

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370

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Paul A Overbeek

Alberto M. Pendas

Ignacio García-Tuñón

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2014-03-01T00:00:00Z

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P698

24597867

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4068824

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