Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations.
about
Evolution and functional divergence of NLRP genes in mammalian reproductive systemsHorror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)Genetics and Epigenetics of Recurrent Hydatidiform Moles: Basic Science and Genetic CounsellingThree-dimensional Structure of the NLRP7 Pyrin Domain: INSIGHT INTO PYRIN-PYRIN-MEDIATED EFFECTOR DOMAIN SIGNALING IN INNATE IMMUNITYExpression 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)."Personalizing" academic medicine: opportunities and challenges in implementing genomic profilingRecent evolution of the NF-κB and inflammasome regulating protein POP2 in primatesNo evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertilityInflammasomes and their activation.Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defectsMutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.NLRP7, a nucleotide oligomerization domain-like receptor protein, is required for normal cytokine secretion and co-localizes with Golgi and the microtubule-organizing center.NLRP7 and the Genetics of Hydatidiform Moles: Recent Advances and New Challenges.A strong founder effect for two NLRP7 mutations in the Indian population: an intriguing observation.Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions.The genetics of innate immunity sensors and human disease.NOD-like receptors interfacing the immune and reproductive systems.Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring.Identification of a human subcortical maternal complex.NLRP7 contributes to in vitro decidualization of endometrial stromal cells.Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.Atypical Inflammasomes.Developmental expression and possible functional roles of mouse Nlrp4e in preimplantation embryos.Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles.
P2860
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P2860
Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations.
description
2007 nî lūn-bûn
@nan
2007 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Women heterozygous for NALP7/N ...... report of two novel mutations.
@ast
Women heterozygous for NALP7/N ...... report of two novel mutations.
@en
type
label
Women heterozygous for NALP7/N ...... report of two novel mutations.
@ast
Women heterozygous for NALP7/N ...... report of two novel mutations.
@en
prefLabel
Women heterozygous for NALP7/N ...... report of two novel mutations.
@ast
Women heterozygous for NALP7/N ...... report of two novel mutations.
@en
P2093
P356
P1433
P1476
Women heterozygous for NALP7/N ...... report of two novel mutations
@en
P2093
Catherine Deveault
Jinhua Qian
P356
10.1002/HUMU.9498
P50
P577
2007-07-01T00:00:00Z