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
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
21463199 (PubMed )
Supplement: supplement_1.pdf
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
Autosomal recessive Bardet-Biedl syndrome: first-degree relatives have no predisposition to metabolic and renal disorders.
Webb MP et al.
Kidney International, 2009
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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