Accès ouvert
2025
article
OpenAlex
Yi‐Ting Chen, Ming-Ming Jiang, Carolina Leynes, Mary Adeyeye et autres
ATP-dependent chromatin remodeling protein ATRX is an essential regulator involved in maintenance of DNA structure and chromatin state and regulation of gene expression during development. ATRX was originally identified as the monogenic cause of X-linked α-thalassemia mental retardation (ATR-X) syndrome. Affected individuals …
us, fr, gb
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Accès ouvert
2022
article
OpenAlex
Monika Weisz‐Hubshman, Adetutu T Egunsula, Brian Dawson, Alexis Castellon et autres
Loss-of-function mutations in DDRGK1 have been shown to cause Shohat type spondyloepimetaphyseal dysplasia (SEMD). In zebrafish, loss of function of ddrgk1 leads to defects in early cartilage development. Ddrgk1-/- mice show delayed mesenchymal condensation in the limb buds and early embryonic lethality. …
us
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Accès ouvert
2021
article
OpenAlex
Keren Machol, Urszula Polak, Monika Weisz‐Hubshman, I-Wen Song et autres
Type V collagen is a regulatory fibrillar collagen essential for type I collagen fibril nucleation and organization and its deficiency leads to structurally abnormal extracellular matrix (ECM). Haploinsufficiency of the Col5a1 gene encoding α(1) chain of type V collagen is the primary …
us
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Accès ouvert
2017
article
OpenAlex
Adetutu T. Egunsola, Yangjin Bae, Ming-Ming Jiang, David S. Liu et autres
Shohat-type spondyloepimetaphyseal dysplasia (SEMD) is a skeletal dysplasia that affects cartilage development. Similar skeletal disorders, such as spondyloepiphyseal dysplasias, are linked to mutations in type II collagen (COL2A1), but the causative gene in SEMD is not known. Here, we have performed whole-exome …
us, il, ca
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