Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt-Reference-Cited by-同舟云学术

Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt

Published:2016-02-03 Issue:6 Volume:53 Page:419-425
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Di Donato Nataliya,Neuhann Teresa,Kahlert Anne-Karin,Klink Barbara,Hackmann Karl,Neuhann Irmingard,Novotna Barbora,Schallner Jens,Krause Claudia,Glass Ian A,Parnell Shawn E,Benet-Pages Anna,Nissen Anke M,Berger Wolfgang,Altmüller Janine,Thiele Holger,Weber Bernhard H F,Schrock Evelin,Dobyns William B,Bier Andrea,Rump Andreas

Publisher

BMJ

Subject

Genetics (clinical),Genetics

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1. A biallelic variant of the RNA exosome gene, EXOSC4, associated with neurodevelopmental defects impairs RNA exosome function and translation;Journal of Biological Chemistry;2024-08

2. Nuclear RNA homeostasis promotes systems-level coordination of cell fate and senescence;Cell Stem Cell;2024-05

3. The putative RNA helicase DDX1 associates with the nuclear RNA exosome and modulates RNA/DNA hybrids (R-loops);Journal of Biological Chemistry;2024-02

4. A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C;Journal of Human Genetics;2023-11-29

5. A Biallelic Variant of the RNA Exosome GeneEXOSC4Causes Translational Defects Associated with a Neurodevelopmental Disorder;2023-10-28