Varaico: Literature-Extracted Genetic Variants

Gene:NLRP7
Variant:p.N913S
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NLRP7

NM_001127255.2:p.N913S

Associated Papers

Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus.

Slim R et al.

Human Mutation, 2022

DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting.

Anvar Z et al.

Genes, 2021

NLRP7: From inflammasome regulation to human disease.

Carriere J et al.

Immunology, 2021

The genetics of recurrent hydatidiform moles in Mexico: further evidence of a strong founder effect for one mutation in NLRP7 and its widespread.

Aguinaga M et al.

Journal of Assisted Reproduction and Genetics, 2021

Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.

Greer C et al.

Human Reproduction (oxford, England), 2021

Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies.

Cozette C et al.

Journal of Assisted Reproduction and Genetics, 2020

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.

Komor AC et al.

Nature, 2016

27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf

Live births in women with recurrent hydatidiform mole and two NLRP7 mutations.

Akoury E et al.

Reproductive Biomedicine Online, 2015

Clinical applications and implications of common and founder mutations in Indian subpopulations.

Ankala A et al.

Human Mutation, 2015

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

Nguyen NM et al.

Journal of Medical Genetics, 2014

Functions of NOD-Like Receptors in Human Diseases.

Zhong Y et al.

Frontiers in Immunology, 2013

NLRP7, a nucleotide oligomerization domain-like receptor protein, is required for normal cytokine secretion and co-localizes with Golgi and the microtubule-organizing center.

Messaed C et al.

The Journal of Biological Chemistry, 2011

NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage.

Messaed C et al.

Journal of Medical Genetics, 2011

A strong founder effect for two NLRP7 mutations in the Indian population: an intriguing observation.

Slim R et al.

Clinical Genetics, 2009

Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region.

Wang CM et al.

Journal of Medical Genetics, 2009

Genetic and epigenetic analysis of recurrent hydatidiform mole.

Hayward BE et al.

Human Mutation, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

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

Qian J et al.

Human Mutation, 2007

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.

Murdoch S et al.

Nature Genetics, 2006

Decoding the Genetics of Recurrent Molar Pregnancy.

Mehta S et al.

Journal of Human Reproductive Sciences, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."