Associated Papers
Genetic Contributions to Lower Urinary Tract Dysfunction.
Hiltebeitel LR et al.
American Journal of Medical Genetics. Part A, 2025
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.
Gouronc A et al.
Clinical Genetics, 2020
Structure and activation mechanism of the BBSome membrane protein trafficking complex.
Singh SK et al.
Elife, 2020
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes.
Zhang Q et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration.
Pretorius PR et al.
Human Molecular Genetics, 2011
Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling.
Wiens CJ et al.
The Journal of Biological Chemistry, 2010
Biochemical characterization of missense mutations in the Arf/Arl-family small GTPase Arl6 causing Bardet-Biedl syndrome.
Kobayashi T et al.
Biochemical and Biophysical Research Communications, 2009
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
Fan Y et al.
Nature Genetics, 2004
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