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Article

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.

Nature genetics - 1 Mar 2006

Murdoch Sharlene, Djuric Ugljesa, Mazhar Batool, Seoud Muheiddine, Khan Rabia, Kuick Rork, Bagga Rashmi, Kircheisen Renate, Ao Asangla, Ratti Bhawna, Hanash Samir, Rouleau Guy A, Slim Rima

Abstract excerpt

Hydatidiform mole (HM) is an abnormal human pregnancy with no embryo and cystic degeneration of placental villi. We report five mutations in the maternal gene NALP7 in individuals with familial and recurrent HMs. NALP7 is a member of the CATERPILLER protein family involved in inflammation and apoptosis. NALP7 is the first maternal effect gene identified in humans and is also responsible for recurrent spontaneous...

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PMID: 16462743
DOI: 10.1038/ng1740

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

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