Associated Papers
Generation and characterization of human iPSC lines (FAHZJUi001-A and FAHZJUi002-A) from two familial recurrent hydatidiform mole patients carrying homozygous mutation in the NLRP7 gene.
Cai L et al.
Human Cell, 2026
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus.
Slim R et al.
Human Mutation, 2022
Genetic screening of Chinese patients with hydatidiform mole by whole-exome sequencing and comprehensive analysis.
Yang J et al.
Journal of Assisted Reproduction and Genetics, 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
Application of next-generation sequencing to preimplantation genetic testing for recurrent hydatidiform mole patients.
Yang J et al.
Journal of Assisted Reproduction and Genetics, 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
Abnormal processing of IL-1β in NLRP7-mutated monocytes in hydatidiform mole patients.
Zhang P et al.
Clinical and Experimental Immunology, 2020
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.
Cubellis MV et al.
Clinical Epigenetics, 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
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.
Reddy R et al.
European Journal of Human Genetics : Ejhg, 2016
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
Histopathological features of biparental complete hydatidiform moles in women with NLRP7 mutations.
Sebire NJ et al.
Placenta, 2013
The spectrum of NLRP7 mutations in French patients with recurrent hydatidiform mole.
Muhlstein J et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2011
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