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Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome.
Hum Mol Genet. 2022 Apr 22;31(8):1325-1335. doi: 10.1093/hmg/ddab323.
Hum Mol Genet. 2022.
PMID: 34740257
Free PMC article.
DDRGK1 is required for the proper development and maintenance of the growth plate cartilage.
Weisz-Hubshman M, Egunsula AT, Dawson B, Castellon A, Jiang MM, Chen-Evenson Y, Zhiyin Y, Lee B, Bae Y.
Weisz-Hubshman M, et al. Among authors: chen evenson y.
Hum Mol Genet. 2022 Aug 23;31(16):2820-2830. doi: 10.1093/hmg/ddac078.
Hum Mol Genet. 2022.
PMID: 35377455
Free PMC article.
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Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.
Egunsola AT, Bae Y, Jiang MM, Liu DS, Chen-Evenson Y, Bertin T, Chen S, Lu JT, Nevarez L, Magal N, Raas-Rothschild A, Swindell EC, Cohn DH, Gibbs RA, Campeau PM, Shohat M, Lee BH.
Egunsola AT, et al. Among authors: chen evenson y.
J Clin Invest. 2017 Apr 3;127(4):1475-1484. doi: 10.1172/JCI90193. Epub 2017 Mar 6.
J Clin Invest. 2017.
PMID: 28263186
Free PMC article.
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