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Article

A novel NLRP7 protein-truncating mutation associated with discordant and divergent p57 immunostaining in diploid biparental and triploid digynic moles.

Virchows Archiv : an international journal of pathology - 1 Aug 2020

Allias Fabienne, Mechtouf Nawel, Gaillot-Durand Lucie, Hoffner Lori, Hajri Touria, Devouassoux-Shisheboran Mojgan, Massardier Jérôme, Golfier François, Bolze Pierre-Adrien, Surti Urvashi, Slim Rima

Abstract excerpt

NLRP7 is a maternal-effect gene that has a primary role in the oocyte. Its biallelic mutations are a major cause for recurrent diploid biparental hydatidiform moles (HMs). Here, we describe the full characterization of four HMs from a patient with a novel homozygous protein-truncating mutation in NLRP7. We found that some HMs have features of both complete and partial moles. Two HMs expressed p57 in the...

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Share to Adaptor Proteins, Signal Transducing
Share to Cyclin-Dependent Kinase Inhibitor p57

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hydatidiform Mole

Share to Neoplasm Recurrence, Local

Share to Nevus, Pigmented

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PMID: 32055942
DOI: 10.1007/s00428-020-02769-w

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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