Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7

An NLRP7-Containing Inflammasome Mediates Recognition of Microbial Lipopeptides in Human Macrophages

(2012) Sonal Khare et al.   IMMUNITY

Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte

(2011) David A. Parry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The selective footprints of viral pressures at the human RIG-I-like receptor family

(2011) Estelle Vasseur et al.   HUMAN MOLECULAR GENETICS

On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

(2011) David N. Cooper et al.   HUMAN MUTATION

Screening for NLRP7 Mutations in Familial and Sporadic Recurrent Hydatidiform Moles

(2011) Hanène Landolsi et al.   INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY

NLRP7, a Nucleotide Oligomerization Domain-like Receptor Protein, Is Required for Normal Cytokine Secretion and Co-localizes with Golgi and the Microtubule-organizing Center

(2011) Christiane Messaed et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Evolutionary History of TLR4 Polymorphisms in Europe

(2011) Theo S. Plantinga et al.   Journal of Innate Immunity

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

(2011) C. Messaed et al.   JOURNAL OF MEDICAL GENETICS

What a difference an egg makes

(2011) Rosemary A Fisher et al.   LANCET

The genetics of recurrent hydatidiform moles in China: correlations between NLRP7 mutations, molar genotypes and reproductive outcomes

(2011) JianHua Qian et al.   MOLECULAR HUMAN REPRODUCTION

NLRP7 and the genetics of post-molar choriocarcinomas in Senegal

(2011) Rima Slim et al.   MOLECULAR HUMAN REPRODUCTION

Signatures of Environmental Genetic Adaptation Pinpoint Pathogens as the Main Selective Pressure through Human Evolution

(2011) Matteo Fumagalli et al.   PLoS Genetics

Use of proteomics to identify highly abundant maternal factors that drive the egg-to-embryo transition

(2010) Piraye Yurttas et al.   REPRODUCTION

A strong founder effect for twoNLRP7mutations in the Indian population: an intriguing observation

(2009) R Slim et al.   CLINICAL GENETICS

Traces of sub-Saharan and Middle Eastern lineages in Indian Muslim populations

(2009) Muthukrishnan Eaaswarkhanth et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation

(2009) C. Deveault et al.   HUMAN MOLECULAR GENETICS

Genetic and Epigenetic Analysis of Recurrent Hydatidiform Mole

(2009) Bruce E. Hayward et al.   HUMAN MUTATION

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

(2009) C M Wang et al.   JOURNAL OF MEDICAL GENETICS

From evolutionary genetics to human immunology: how selection shapes host defence genes

(2009) Luis B. Barreiro et al.   NATURE REVIEWS GENETICS