Genetic therapeutic strategies for Bardet-Biedl Syndrome
MR Cring - 2020 - search.proquest.com
Abstract Bardet-Beidl Syndrome (BBS) is a pleiotropic ciliopathy that causes a variety of
features in humans and animal models, including retinal degeneration, obesity, male …
features in humans and animal models, including retinal degeneration, obesity, male …
Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model
MR Cring, KJ Meyer, CC Searby, A Hedberg-Buenz… - Gene therapy, 2022 - nature.com
Bardet–Biedl syndrome (BBS) is a rare ciliopathy for which there are no current effective
treatments. BBS is a genetically heterogeneous disease, though the M390R mutation in …
treatments. BBS is a genetically heterogeneous disease, though the M390R mutation in …
Retrotransposon insertion as a novel mutational event in Bardet‐Biedl syndrome
Abstract Background Bardet‐Biedl syndrome (BBS) is an autosomal recessive pleiotropic
disorder of the primary cilia that leads to severe visual loss in the teenage years …
disorder of the primary cilia that leads to severe visual loss in the teenage years …
The Bardet-Biedl Syndrome
Abstract Bardet–Biedl syndrome (BBS)(OMIM 209900) is a heterogeneous autosomal
recessive disorder characterized by clinical findings that include obesity, photoreceptor …
recessive disorder characterized by clinical findings that include obesity, photoreceptor …
[HTML][HTML] Bardet–biedl syndrome
E Forsythe, PL Beales - European journal of human genetics, 2013 - nature.com
Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by
retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and …
retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and …
Establishing a connection between cilia and Bardet–Biedl syndrome
K Mykytyn, VC Sheffield - Trends in molecular medicine, 2004 - cell.com
Abstract Bardet–Biedl Syndrome (BBS) is a genetic disorder with the primary features of
retinal dystrophy, obesity, polydactyly, structural and functional renal abnormalities, and …
retinal dystrophy, obesity, polydactyly, structural and functional renal abnormalities, and …
Bardet-Biedl Syndrome: A Comprehensive Review of an Autosomal Recessive Ciliopathy
FV Martin, HMV Jimenez, MEU Reyes… - International Journal of …, 2023 - ijmscr.org
Abstract Bardet-Biedl Syndrome (BBS) is a rare, genetically heterogeneous, and autosomal
recessive ciliopathy characterized by a complex clinical phenotype. This article provides a …
recessive ciliopathy characterized by a complex clinical phenotype. This article provides a …
Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease
J Muller, C Stoetzel, MC Vincent, CC Leitch, V Laurier… - Human genetics, 2010 - Springer
Abstract Bardet–Biedl syndrome (BBS), an emblematic disease in the rapidly evolving field
of ciliopathies, is characterized by pleiotropic clinical features and extensive genetic …
of ciliopathies, is characterized by pleiotropic clinical features and extensive genetic …
A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy with autosomal
recessive inheritance and an estimated worldwide prevalence of 1 in 150,000 individuals …
recessive inheritance and an estimated worldwide prevalence of 1 in 150,000 individuals …
[HTML][HTML] Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes
Bardet–Biedl syndrome (BBS) is a rare ciliopathy disorder that is clinically and genetically
heterogeneous with 18 known genes. This study was performed to characterize responsible …
heterogeneous with 18 known genes. This study was performed to characterize responsible …