(Q37102089)

18 August 2017

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

1 reference

18 August 2017

Ramesh Reddy

1

1 reference

18 August 2017

Elie Akoury

2

1 reference

18 August 2017

Ngoc Minh Phuong Nguyen

3

1 reference

18 August 2017

Omar A Abdul-Rahman

4

1 reference

18 August 2017

Christine Dery

5

1 reference

18 August 2017

Neerja Gupta

6

1 reference

18 August 2017

William P Daley

7

1 reference

18 August 2017

Asangla Ao

8

1 reference

18 August 2017

Hanene Landolsi

9

1 reference

18 August 2017

Rosemary Ann Fisher

10

1 reference

18 August 2017

Isabelle Touitou

11

1 reference

18 August 2017

Rima Slim

12

1 reference

18 August 2017

12 December 2012

1 reference

European Journal of Human Genetics

18 August 2017

1 reference

18 August 2017

21

1 reference

18 August 2017

9

1 reference

18 August 2017

957-964

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2012.274

18 August 2017

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

Signatures of environmental genetic adaptation pinpoint pathogens as the main selective pressure through human evolution

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

NLRP7, a nucleotide oligomerization domain-like receptor protein, is required for normal cytokine secretion and co-localizes with Golgi and the microtubule-organizing center

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

The evolutionary history of TLR4 polymorphisms in Europe

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

Screening for NLRP7 mutations in familial and sporadic recurrent hydatidiform moles: report of 2 Tunisian families

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

The demographics of molar pregnancies in England and Wales from 2000-2009.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

A strong founder effect for two NLRP7 mutations in the Indian population: an intriguing observation.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

Excavating Y-chromosome haplotype strata in Anatolia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

Epidemiology of hydatidiform mole and choriocarcinoma

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

Gestational trophoblastic disease. Subsequent pregnancy outcome, including repeat molar pregnancy.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

Flow cytometric and clinicopathologic study of 197 hydatidiform moles with special reference to the significance of cytometric aneuploidy and literature review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

Recurrent hydatidiform mole: a report of five cases with review of the literature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

Epidemiology of gestational trophoblastic disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

What a difference an egg makes.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

NLRP7 and the genetics of post-molar choriocarcinomas in Senegal

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

Genetic and epigenetic analysis of recurrent hydatidiform mole.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

A global disorder of imprinting in the human female germ line.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

Subsequent reproductive experience after treatment for gestational trophoblastic disease.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746251

The syndromes of hydatidiform mole. II. Morphologic evolution of the complete and partial mole

3 September 2018

1 reference

12 December 2020

Clinicopathologic characteristics and subsequent pregnancy outcome in 139 complete hydatidiform moles

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2012.274

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

23232697

1 reference