Associated Papers
Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus.
Slim R et al.
Human Mutation, 2022
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Eggermann T et al.
Clinical Epigenetics, 2022
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
Jain A et al.
Journal, Genetic Engineering & Biotechnology, 2021
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
Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.
Sharma P et al.
Frontiers in Genetics, 2021
Abnormal processing of IL-1β in NLRP7-mutated monocytes in hydatidiform mole patients.
Zhang P et al.
Clinical and Experimental Immunology, 2020
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
Begemann M et al.
Journal of Medical Genetics, 2018
Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring.
Soellner L et al.
European Journal of Human Genetics : Ejhg, 2017
No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility.
Aghajanova L et al.
Human Reproduction (oxford, England), 2015
A familial disorder of altered DNA-methylation.
Caliebe A et al.
Journal of Medical Genetics, 2014
Genetics and Epigenetics of Recurrent Hydatidiform Moles: Basic Science and Genetic Counselling.
Nguyen NM et al.
Current Obstetrics and Gynecology Reports, 2014
Functions of NOD-Like Receptors in Human Diseases.
Zhong Y et al.
Frontiers in Immunology, 2013
Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defects.
Beygo J et al.
Plos One, 2013
NLRP7 mutation analysis in sporadic hydatidiform moles in Tunisian patients: NLRP7 and sporadic mole.
Landolsi H et al.
Archives of Pathology & Laboratory Medicine, 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
The genetics of recurrent hydatidiform moles in China: correlations between NLRP7 mutations, molar genotypes and reproductive outcomes.
Qian J et al.
Molecular Human Reproduction, 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
NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation.
Deveault C et al.
Human Molecular Genetics, 2009