Results 221 to 230 of about 2,432,528 (230)

Bardet‐Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction

Diabetes, obesity and metabolism
Bardet‐Biedl syndrome (BBS) is a rare, monogenic, multisystem disorder characterized by retinal dystrophy, renal abnormalities, polydactyly, learning disabilities, as well as metabolic dysfunction, including obesity and an increased risk of type 2 ...
Jeremy W. Tomlinson
semanticscholar   +1 more source

Retinal ciliopathies through the lens of Bardet-Biedl Syndrome: Past, present and future.

Progress in retinal and eye research, 2021
The primary cilium is a highly specialized and evolutionary conserved organelle in eukaryotes that plays a significant role in cell signaling and trafficking.
Bharatendu Chandra, M. Tung, Ying Hsu, T. Scheetz, V. Sheffield   +4 more
semanticscholar   +1 more source

Mutation profile of Bardet‐Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern

Clinical Genetics, 2023
Bardet‐Biedl syndrome (BBS), a rare primary form of ciliopathy, with heterogeneous clinical and genetic presentation is characterized by rod cone dystrophy, obesity, polydactyly, urogenital abnormalities, and cognitive impairment.
Harshavardhini Gnanasekaran, S. Chandrasekhar, S. Kandeeban, Porkodi Periyasamy, M. Bhende, V. Khetan, Neerja Gupta, M. Kabra, Sheela Namboothri, P. Sen, S. Sripriya   +10 more
semanticscholar   +1 more source

Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome.

Human Molecular Genetics, 2021
The IFT-B complex mediates ciliary anterograde protein trafficking and membrane protein export together with the BBSome. Bardet-Biedl syndrome (BBS) is caused by mutations in not only all BBSome subunits, but also in some IFT-B subunits, including IFT74 ...
Zhuang Zhou, Hantian Qiu, Roiner-Francisco Castro-Araya, R. Takei, K. Nakayama, Yohei Katoh   +5 more
semanticscholar   +1 more source

Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome

Nature, 2003
S. J. Ansley, José L. Badano, O. Blacque, Josephine Hill, B. Hoskins, C. C. Leitch, Jun Chul Kim, A. Ross, E. Eichers, T. Teslovich, A. Mah, R. Johnsen, J. Cavender, R. Lewis, M. Leroux, P. Beales, N. Katsanis   +16 more
semanticscholar   +1 more source

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

Nature Genetics, 2005
A. Ross, H. May-Simera, E. Eichers, M. Kai, Josephine Hill, D. Jagger, C. C. Leitch, J. Chapple, Peter M. G. Munro, S. Fisher, P. L. Tan, H. Phillips, M. Leroux, D. Henderson, J. Murdoch, A. Copp, Marie-Madeleine Eliot, J. Lupski, D. Kemp, H. Dollfus, M. Tada, N. Katsanis, A. Forge, P. Beales   +23 more
semanticscholar   +1 more source

Genetics of human Bardet–Biedl syndrome, an updates

Clinical Genetics, 2016
S. A. Khan, Noor Muhammad, M. Khan, M. Khan, Anwar Kamal, Z. U. Rehman, Saadullah Khan, Saadullah Khan   +7 more
semanticscholar   +1 more source

Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

Science, 2001
N. Katsanis, S. J. Ansley, José L. Badano, E. Eichers, R. Lewis, B. Hoskins, P. Scambler, W. Davidson, P. Beales, J. Lupski   +9 more
semanticscholar   +1 more source

Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.

Medical Research Archives, 2017
Katie Weihbrecht, Wesley A. Goar, Thomas K. Pak, Janelle E Garrison, Adam P. DeLuca, E. Stone, T. Scheetz, V. Sheffield   +7 more
semanticscholar   +1 more source