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Article

Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles.

Journal of medical genetics - 1 Mar 2012

Dixon Peter H, Trongwongsa Pirada, Abu-Hayyah Shadi, Ng Sze Hwei, Akbar Syed Ali, Khawaja Nuzhat P, Seckl Michael J, Savage Philip M, Fisher Rosemary A

Abstract excerpt

BACKGROUND: NLRP7 (NALP7) has been identified as the major gene involved in the inherited predisposition to recurrent molar pregnancies, a rare recessive condition in which affected individuals have complete hydatidiform moles of diploid biparental origin (BiCHM). The role of NLRP7 in other types of molar pregnancy and reproductive wastage has not been conclusively demonstrated. The purpose of this study was to...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22315435
DOI: 10.1136/jmedgenet-2011-100602

Genes

NLRP7
CHM

Variants

Provenance

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Related research

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Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles.PMID 22315435Read ↗

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

Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage.Semantic proximity Read ↗

Recurrent pregnancy loss in a woman with NLRP7 mutation: not all molar pregnancies can be easily classified as either "partial" or "complete" hydatidiform moles.Semantic proximity Read ↗

The genetics of recurrent hydatidiform moles in China: correlations between NLRP7 mutations, molar genotypes and reproductive outcomes.Semantic proximity Read ↗

No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles.Semantic proximity Read ↗

Heterogeneity in recurrent complete hydatidiform mole: presentation of two new Turkish families with different genetic characteristics.Semantic proximity Read ↗

NLRP7 or KHDC3L genes and the etiology of molar pregnancies and recurrent miscarriage.Semantic proximity Read ↗

Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221.Semantic proximity Read ↗

NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage.Semantic proximity Read ↗

Novel NLRP7 mutations in familial recurrent hydatidiform mole: are NLRP7 mutations a risk for recurrent reproductive wastage?Semantic proximity Read ↗

A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles.Semantic proximity Read ↗

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.Semantic proximity Read ↗

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