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Your search keyword '"Roux, Michel J."' showing total 3 results
Start Over Author "Roux, Michel J." Publisher biomed central
3 results on '"Roux, Michel J."'

2. Systematic ocular phenotyping of 8,707 knockout mouse lines identifies genes associated with abnormal corneal phenotypes

Author

Vo, Peter, Imai-Leonard, Denise M., Yang, Benjamin, Briere, Andrew, Shao, Andy, Casanova, M. Isabel, Adams, David, Amano, Takanori, Amarie, Oana, Berberovic, Zorana, Bower, Lynette, Braun, Robert, Brown, Steve, Burrill, Samantha, Cho, Soo Young, Clementson-Mobbs, Sharon, D’Souza, Abigail, Dickinson, Mary, Eskandarian, Mohammad, Flenniken, Ann M., Fuchs, Helmut, Gailus-Durner, Valerie, Heaney, Jason, Hérault, Yann, Angelis, Martin Hrabe de, Hsu, Chih-Wei, Jin, Shundan, Joynson, Russell, Kang, Yeon Kyung, Kim, Haerim, Masuya, Hiroshi, Meziane, Hamid, Murray, Steve, Nam, Ki-Hoan, Noh, Hyuna, Nutter, Lauryl M. J., Palkova, Marcela, Prochazka, Jan, Raishbrook, Miles Joseph, Riet, Fabrice, Ryan, Jennifer, Salazar, Jason, Seavey, Zachery, Seavitt, John Richard, Sedlacek, Radislav, Selloum, Mohammed, Seo, Kyoung Yul, Seong, Je Kyung, Shin, Hae-Sol, Shiroishi, Toshihiko, Stewart, Michelle, Svenson, Karen, Tamura, Masaru, Tolentino, Heather, Udensi, Uchechukwu, Wells, Sara, White, Jacqueline, Willett, Amelia, Wotton, Janine, Wurst, Wolfgang, Yoshiki, Atsushi, Lanoue, Louise, Lloyd, K. C. Kent, Leonard, Brian C., Roux, Michel J., McKerlie, Colin, and Moshiri, Ala

Published
2025
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3. Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice.

Author

Cognard, Noëlle, Scerbo, Maria J., Obringer, Cathy, Xiangxiang Yu, Costa, Fanny, Haser, Elodie, Le, Dane, Stoetzel, Corinne, Roux, Michel J., Moulin, Bruno, Dollfus, Hélène, and Marion, Vincent

Subjects
LAURENCE-Moon-Biedl syndrome, EPITHELIAL cells, VASOPRESSIN, DISEASES
Abstract

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 all BBS patients worldwide. It codes for the BBS10 protein which forms part of a chaperone complex localized at the basal body of the primary cilium. Renal dysfunction in BBS patients is one of the major causes of morbidity in human patients and is associated initially with urinary concentration defects related to water reabsorption impairment in renal epithelial cells. The aim of this study was to study and compare the impact of a total Bbs10inactivation (Bbs10-/-) with that of a specific renal epithelial cells inactivation (Bbs10fl/fl; Cdh16-Cre+/-). Results: We generated the Bbs10-/-; and Bbs10fl/fl; Cadh16-Cre+/- mouse model and characterized them. Bbs10-/- mice developed obesity, retinal degeneration, structural defects in the glomeruli, polyuria associated with high circulating arginine vasopressin (AVP) concentrations, and vacuolated, yet ciliated, renal epithelial cells. On the other hand, the Bbs10fl/fl; Cadh16-Cre+/- mice displayed no detectable impairment. Conclusions: These data highlight the importance of a systemic Bbs10 inactivation to trigger averted renal dysfunction whereas a targeted absence of BBS10 in the renal epithelium is seemingly non-deleterious. [ABSTRACT FROM AUTHOR]

Published
2015
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