Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Jan, Meuleman"'
Autor:
Albena Kantardzhieva, Jan Wijnholds, Inge Versteeg, André Le Bivic, Jan Meuleman, Anna Malysheva, Jan Klooster, Mathias W. Seeliger, Serge A. van de Pavert, P. Rashbass, Christiaan N. Levelt, Sylvia Geiger
Publikováno v:
Journal of Cell Science. 117:4169-4177
Loss of Crumbs homologue 1 (CRB1) function causes either the eye disease Leber congenital amaurosis or progressive retinitis pigmentosa, depending on the amount of residual CRB1 activity and the genetic background. Crb1 localizes specifically to the
Autor:
Inge Versteeg, Willem Kamphuis, Chris J. McCabe, Wendy M. Aartsen, Felix Tonagel, Jan Wijnholds, Serge A. van de Pavert, Anna Malysheva, Jan Meuleman, Mathias W. Seeliger
Different mutations in the human Crumbs homolog-1 (CRB1) gene cause a variety of retinal dystrophies, such as Leber congenital amaurosis, early onset retinitis pigmentosa (e.g., RP12), RP with Coats-like exudative vasculopathy, and pigmented paraveno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::476a39cc4b83101881715cf2ed0930d8
https://europepmc.org/articles/PMC6672796/
https://europepmc.org/articles/PMC6672796/
Autor:
André Le Bivic, Jan Meuleman, Agnes G.S.H. van Rossum, Jan Wijnholds, Anna Malysheva, Inge Versteeg, Jan Klooster, Jean-Pierre Arsanto, Wendy M. Aartsen
Publikováno v:
Human molecular genetics. 15(18)
Mutations in the human Crumbs homologue-1 (CRB1) gene cause retinal diseases including Leber's congenital amaurosis (LCA) and retinitis pigmentosa type 12. The CRB1 transmembrane protein localizes at a subapical region (SAR) above intercellular adher
Publikováno v:
Europe PubMed Central
ResearcherID
ResearcherID
Several retinal dystrophies, including retinitis pigmentosa type 12 and Leber congenital amaurosis, are caused by a large variety of mutations in the CRB1 (Crumbs homologue 1) gene. This discovery led to an increased focus on the function of CRB1 and
Autor:
Gert, Hünermund, Anja, Schirmacher, Bernd, Ringelstein, Peter, Young, Giles D, Watts, Jan, Meuleman, Eva, Nelis, Phillip F, Chance, Vincent, Timmerman, Florian, Stögbauer, Gregor, Kuhlenbäumer
Publikováno v:
Musclenerve. 29(4)
Hereditary neuralgic amyotrophy (HNA) is an autosomal-dominant inherited recurrent focal neuropathy affecting mainly the brachial plexus. In this study we report the genomic structure and mutation analysis of three candidate genes: sphingosine kinase