Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.

about

NLRP7, Involved in Hydatidiform Molar Pregnancy (HYDM1), Interacts with the Transcriptional Repressor ZBTB16.The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles.

P2860

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P2860

Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.

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http://www.wikidata.org/entity/Q50643504

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2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年學術文章

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2014年學術文章

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name

Comprehensive genotype-phenoty ...... d trophoblastic proliferation.

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Comprehensive genotype-phenoty ...... d trophoblastic proliferation.

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type

Item

label

Comprehensive genotype-phenoty ...... d trophoblastic proliferation.

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Comprehensive genotype-phenoty ...... d trophoblastic proliferation.

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Comprehensive genotype-phenoty ...... d trophoblastic proliferation.

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Comprehensive genotype-phenoty ...... d trophoblastic proliferation.

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P1476

Comprehensive genotype-phenoty ...... d trophoblastic proliferation.

@en

P2093

Asangla Ao

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Christine Déry

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

Ghazi Zaatari

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

Jocelyne Arseneau

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

Li Zhang

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

Lori Hoffner

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

Muhieddine Seoud

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

Ngoc Minh Phuong Nguyen

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

Philippe Coullin

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

Radhika Srinivasan

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

P2860

Differentiation of trophoblast stem cells into giant cells is triggered by p57/Kip2 inhibition of CDK1 activity

Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome

The Ki-67 protein: from the known and the unknown

p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene

Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations.

Epigenetic down-regulation of CDKN1C/p57KIP2 in pancreatic ductal neoplasms identified by gene expression profiling.

Expression analysis of the NLRP gene family suggests a role in human preimplantation development.

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

Postzygotic diploidization of triploids as a source of unusual cases of mosaicism, chimerism and twinning.

PYPAF3, a PYRIN-containing APAF-1-like protein, is a feedback regulator of caspase-1-dependent interleukin-1beta secretion.

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623-634

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scholarly article

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10.1136/JMEDGENET-2014-102546

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English

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Rima Slim

N Y Cheung

Rashmi Bagga

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2014-08-05T00:00:00Z

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264496551

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25097207

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Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.

about

P2860

P2860

Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.

description

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P1433

P1476

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