Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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

NACHT-, LRR- und PYD-Domänenprotein 7

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Rekurrente Blasenmole 1
NLRP7
Hypomethylierungs-Syndrom
DNMT1
DNMT3A
DNMT3B
KHDC3L
MECP2
NLRP2
NLRP7
Rekurrente Blasenmole 1
NLRP7
Rekurrente Blasenmole 2
KHDC3L
ZFP57

Referenzen:

1.

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

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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

external link
14.

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.

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

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

external link
23.

NCBI article

NCBI 199713 external link
24.

OMIM.ORG article

Omim 609661 external link
25.

Orphanet article

Orphanet ID 123834 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz