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Article

Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole.

Gynecologic and obstetric investigation - 1 Jan 2016

Ito Yuki, Maehara Kayoko, Kaneki Eisuke, Matsuoka Kentaro, Sugahara Naoko, Miyata Tomoko, Kamura Hiromi, Yamaguchi Yuko, Kono Ayako, Nakabayashi Kazuhiko, Migita Ohsuke, Higashimoto Ken, Soejima Hidenobu, Okamoto Aikou, Nakamura Hitomi, Kimura Tadashi, Wake Norio, Taniguchi Takeshi, Hata Kenichiro

Abstract excerpt

AIM: This study aimed to clarify the genetic and epigenetic features of recurrent hydatidiform mole (RHM) in Japanese patients. METHODS: Four Japanese isolated RHM cases were analyzed using whole-exome sequencing. Villi from RHMs were collected by laser microdissection for genotyping and DNA methylation assay of differentially methylated regions (DMRs). Single nucleotide polymorphisms of PEG3 and H19 DMRs were...

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Share to Adaptor Proteins, Signal Transducing
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Methylation

Share to Epigenesis, Genetic

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Share to Neoplasm Recurrence, Local

Share to Uterine Neoplasms

Source

Identifiers

PMID: 26606510
DOI: 10.1159/000441780

Genes

NLRP7
PEG3
PEG10
SNRPN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole.PMID 26606510Read ↗

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The genetics of recurrent hydatidiform moles in Mexico: further evidence of a strong founder effect for one mutation in NLRP7 and its widespread.Semantic proximity Read ↗

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

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