Article
In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.
Nucleic acids research - 11 Aug 2023
Laberthonnière Camille, Delourme Mégane, Chevalier Raphaël, Dion Camille, Ganne Benjamin, Hirst David, Caron Leslie, Perrin Pierre, Adélaïde José, Chaffanet Max, Xue Shifeng, Nguyen Karine, Reversade Bruno, Déjardin Jérôme, Baudot Anaïs, Robin Jérôme D, Magdinier Frédérique
Abstract excerpt
Many genetic syndromes are linked to mutations in genes encoding factors that guide chromatin organization. Among them, several distinct rare genetic diseases are linked to mutations in SMCHD1 that encodes the structural maintenance of chromosomes flexible hinge domain containing 1 chromatin-associated factor. In humans, its function as well as the impact of its mutations remains poorly defined. To fill this gap,...
Topics
- Microphthalmos
- Nose
- Choanal Atresia
- Muscle, Skeletal
- Phenotype
- Humans
- Neural Crest
- Chromosomal Proteins, Non-Histone
- Chromatin