Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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.

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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

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23.

NCBI article

NCBI 199713 [^]
24.

OMIM.ORG article

Omim 609661 [^]
25.

Orphanet article

Orphanet ID 123834 [^]
Update: 9. Mai 2019