Varaico: Literature-Extracted Genetic Variants

Gene:NLRP7
Variant:p.R693P
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NLRP7

NM_001127255.2:p.R693P

Associated Papers

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

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

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

Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting.

Sanchez-Delgado M et al.

Plos Genetics, 2015

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

NLRP7, Involved in Hydatidiform Molar Pregnancy (HYDM1), Interacts with the Transcriptional Repressor ZBTB16.

Singer H et al.

Plos One, 2015

NLRP7 inter-domain interactions: the NACHT-associated domain is the physical mediator for oligomeric assembly.

Singer H et al.

Molecular Human Reproduction, 2014

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

An NLRP7-containing inflammasome mediates recognition of microbial lipopeptides in human macrophages.

Khare S et al.

Immunity, 2012

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

IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease.

Carr IM et al.

Human Mutation, 2009

Genetic and epigenetic analysis of recurrent hydatidiform mole.

Hayward BE et al.

Human Mutation, 2009

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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