Literature DB >> 16462743

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

Sharlene Murdoch1, Ugljesa Djuric, Batool Mazhar, Muheiddine Seoud, Rabia Khan, Rork Kuick, Rashmi Bagga, Renate Kircheisen, Asangla Ao, Bhawna Ratti, Samir Hanash, Guy A Rouleau, Rima Slim.   

Abstract

Hydatidiform mole (HM) is an abnormal human pregnancy with no embryo and cystic degeneration of placental villi. We report five mutations in the maternal gene NALP7 in individuals with familial and recurrent HMs. NALP7 is a member of the CATERPILLER protein family involved in inflammation and apoptosis. NALP7 is the first maternal effect gene identified in humans and is also responsible for recurrent spontaneous abortions, stillbirths and intrauterine growth retardation.

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Year:  2006        PMID： 16462743     DOI： 10.1038/ng1740

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  138 in total

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

Authors:  Claire Cozette; Florence Scheffler; Melyne Lombart; Jerome Massardier; Pierre-Adrien Bolze; Touria Hajri; Francois Golfier; Isabelle Touitou; Cecile Rittore; Jean Gondry; Philippe Merviel; Moncef Benkhalifa; Rosalie Cabry
Journal:  J Assist Reprod Genet       Date:  2020-06-26       Impact factor: 3.412

2.  Three-dimensional structure of the NLRP7 pyrin domain: insight into pyrin-pyrin-mediated effector domain signaling in innate immunity.

Authors:  Anderson S Pinheiro; Martina Proell; Clarissa Eibl; Rebecca Page; Robert Schwarzenbacher; Wolfgang Peti
Journal:  J Biol Chem       Date:  2010-06-11       Impact factor: 5.157

3.  A definitive haplotype map as determined by genotyping duplicated haploid genomes finds a predominant haplotype preference at copy-number variation events.

Authors:  Yoji Kukita; Koji Yahara; Tomoko Tahira; Koichiro Higasa; Miki Sonoda; Ken Yamamoto; Kiyoko Kato; Norio Wake; Kenshi Hayashi
Journal:  Am J Hum Genet       Date:  2010-05-27       Impact factor: 11.025

Review 4.  The hydatidiform mole.

Authors:  Jean-Jacques Candelier
Journal:  Cell Adh Migr       Date:  2015-09-30       Impact factor: 3.405

Review 5.  Molecular genetic studies of complete hydatidiform moles.

Authors:  Louise Carey; Benjamin M Nash; Dale C Wright
Journal:  Transl Pediatr       Date:  2015-04

6.  Recurrent triploid and dispermic conceptions in patients with NLRP7 mutations.

Authors:  R Slim; A Ao; U Surti; L Zhang; L Hoffner; J Arseneau; A Cheung; W Chebaro; A Wischmeijer
Journal:  Placenta       Date:  2011-03-21       Impact factor: 3.481

7.  Blimp-1/PRDM1 mediates transcriptional suppression of the NLR gene NLRP12/Monarch-1.

Authors:  Christopher A Lord; David Savitsky; Raquel Sitcheran; Kathryn Calame; Jo Rae Wright; Jenny Pan-Yun Ting; Kristi L Williams
Journal:  J Immunol       Date:  2009-03-01       Impact factor: 5.422

8.  Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring.

Authors:  Lukas Soellner; Matthias Begemann; Franziska Degenhardt; Annegret Geipel; Thomas Eggermann; Elisabeth Mangold
Journal:  Eur J Hum Genet       Date:  2017-05-31       Impact factor: 4.246

Review 9.  The subcortical maternal complex: multiple functions for one biological structure?

Authors:  D Bebbere; L Masala; D F Albertini; S Ledda
Journal:  J Assist Reprod Genet       Date:  2016-08-15       Impact factor: 3.412

Review 10.  NLRC4/IPAF: a CARD carrying member of the NLR family.

Authors:  Fayyaz S Sutterwala; Richard A Flavell
Journal:  Clin Immunol       Date:  2008-09-25       Impact factor: 3.969
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