NACHT-, LRR- and PYD-Domän-enthaltendes Protein 7

Tschopp J et al. (2003) NALPs: a novel protein family involved in inflammation.

Aghajanova L et al. (2015) No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility.

Mahadevan S et al. (2014) NLRP7 affects trophoblast lineage differentiation, binds to overexpressed YY1 and alters CpG methylation.

Huang JY et al. (2013) A genetic association study of NLRP2 and NLRP7 genes in idiopathic recurrent miscarriage.

Slim R et al. (2009) A strong founder effect for two NLRP7 mutations in the Indian population: an intriguing observation.

Zhao J et al. (2006) Analysis of the chromosomal region 19q13.4 in two Chinese families with recurrent hydatidiform mole.

Kinoshita T et al. (2005) PYPAF3, a PYRIN-containing APAF-1-like protein, is a feedback regulator of caspase-1-dependent interleukin-1beta secretion.

Okada K et al. (2004) Oncogenic role of NALP7 in testicular seminomas.

Agarwal P et al. (2004) Familial recurrent molar pregnancy: a case report.

Ozalp S et al. (2001) Recurrent molar pregnancy: report of a case with seven consecutive hydatidiform moles.

Nguyen NM et al. (2014) Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.

Fallahian M et al. (2013) Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions.

Andreasen L et al. (2012) Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221.

Wang CM et al. (2009) Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region.

Deveault C et al. (2009) NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation.

Djuric U et al. (2006) Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation.

Murdoch S et al. (2006) Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.

Fisher RA et al. (2002) The maternally transcribed gene p57(KIP2) (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles.

Sensi A et al. (2000) Mole maker phenotype: possible narrowing of the candidate region.

Moglabey YB et al. (1999) Genetic mapping of a maternal locus responsible for familial hydatidiform moles.

Vejerslev LO et al. (1991) Hydatidiform mole and fetus with normal karyotype: support of a separate entity.

Caliebe A et al. (2014) A familial disorder of altered DNA-methylation.

NCBI article

OMIM.ORG article

Orphanet article