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Advanced filters: Author: Melissa Pauly Clear advanced filters

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Analysis of snRNA genes in individuals with rare disorders identifies de novo and recurrent variants in RNU5B-1 and RNU5A-1, in addition to previously unreported cases with pathogenic or likely pathogenic variants in RNU4-2.

Caroline Nava
Benjamin Cogne
Christel Depienne
ResearchOpen Access16 May 2025
Nature Genetics

Volume: 57, P: 1374-1388
Identification of PCPE-2 as the endogenous specific inhibitor of human BMP-1/tolloid-like proteinases

Most proteases have their own endogenous, specific inhibitors which protect living organisms from the deleterious effects of excessive proteolytic activity. Here, authors identify PCPE-2 as a potent and specific inhibitor of BMP-1/tolloid-like proteases.

Sandrine Vadon-Le Goff
Agnès Tessier
Catherine Moali
ResearchOpen Access04 Dec 2023
Nature Communications

Volume: 14, P: 1-18
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder

Fatimah Albuainain
Yuwei Shi
Tahsin Stefan Barakat
ResearchOpen Access10 Jan 2024
European Journal of Human Genetics

Volume: 32, P: 350-356