Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice

BACKGROUND: Bardet–Biedl Syndrome (BBS) is a genetically heterogeneous ciliopathy with clinical cardinal features including retinal degeneration, obesity and renal dysfunction. To date, 20 BBS genes have been identified with BBS10 being a major BBS gene found to be mutated in almost 20 percent of al...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Cilia
Κύριοι συγγραφείς: Cognard, Noëlle, Scerbo, Maria J, Obringer, Cathy, Yu, Xiangxiang, Costa, Fanny, Haser, Elodie, Le, Dane, Stoetzel, Corinne, Roux, Michel J, Moulin, Bruno, Dollfus, Hélène, Marion, Vincent
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BioMed Central 2015
Θέματα:
Research
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4535764/
https://ncbi.nlm.nih.gov/pubmed/26273430
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13630-015-0019-8
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