dc.contributor.author | Nitschke, Patrick | |
dc.contributor.author | Tuysuz, Beyhan | |
dc.contributor.author | MORTIER, Geert | |
dc.contributor.author | MUNNICH, Arnold | |
dc.contributor.author | CORMIER-DAIRE, Valerie | |
dc.contributor.author | BUI, Catherine | |
dc.contributor.author | HUBER, Celine | |
dc.contributor.author | ALANAY, Yasemin | |
dc.contributor.author | Bole-Feysot, Christine | |
dc.contributor.author | LEROY, Jules G. | |
dc.date.accessioned | 2021-03-04T09:38:37Z | |
dc.date.available | 2021-03-04T09:38:37Z | |
dc.date.issued | 2014 | |
dc.identifier.citation | BUI C., HUBER C., Tuysuz B., ALANAY Y., Bole-Feysot C., LEROY J. G. , MORTIER G., Nitschke P., MUNNICH A., CORMIER-DAIRE V., "XYLT1 Mutations in Desbuquois Dysplasia Type 2", AMERICAN JOURNAL OF HUMAN GENETICS, cilt.94, sa.3, ss.405-414, 2014 | |
dc.identifier.issn | 0002-9297 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_692ae876-44f8-4516-87d4-418b741a8b9b | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/72885 | |
dc.identifier.uri | https://doi.org/10.1016/j.ajhg.2014.01.020 | |
dc.description.abstract | Desbuquois dysplasia (DBQD) is a severe condition characterized by short stature, joint laxity, and advanced carpal ossification. Based on the presence of additional hand anomalies, we have previously distinguished DBQD type 1 and identified CANT1 (calcium activated nucleotidase 1) mutations as responsible for DBQD type 1. We report here the identification of five distinct homozygous xylosyltransferase 1 (XYLT1) mutations in seven DBQD type 2 subjects from six consanguineous families. Among the five mutations, four were expected to result in loss of function and a drastic reduction of XYLT1 cDNA level was demonstrated in two cultured individual fibroblasts. Because xylosyltransferase 1 (XT-I) catalyzes the very first step in proteoglycan (PG) biosynthesis, we further demonstrated in the two individual fibroblasts a significant reduction of cellular PG content. Our findings of XYLT1 mutations in DBQD type 2 further support a common physiological basis involving PG synthesis in the multiple dislocation group of disorders. This observation sheds light on the key role of the XT-I during the ossification process. | |
dc.language.iso | eng | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Tıp | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Yaşam Bilimleri | |
dc.title | XYLT1 Mutations in Desbuquois Dysplasia Type 2 | |
dc.type | Makale | |
dc.relation.journal | AMERICAN JOURNAL OF HUMAN GENETICS | |
dc.contributor.department | Assistance Publique Hopitaux Paris (APHP) , , | |
dc.identifier.volume | 94 | |
dc.identifier.issue | 3 | |
dc.identifier.startpage | 405 | |
dc.identifier.endpage | 414 | |
dc.contributor.firstauthorID | 9325 | |