Results 41 to 50 of about 2,432,528 (230)

Effect of setmelanotide, a melanocortin‐4 receptor agonist, on obesity in Bardet‐Biedl syndrome

Diabetes, obesity and metabolism, 2020
To report an analysis of ~1 year of setmelanotide treatment for obesity and hunger, as well as metabolic and cardiac outcomes, in individuals with Bardet‐Biedl syndrome (BBS).
R. Haws, S. Brady, Elisabeth K. Davis, Kristina Fletty, G. Yuan, Gregory Gordon, M. Stewart, J. Yanovski   +7 more
semanticscholar   +1 more source

A systems-biology approach to understanding the ciliopathy disorders. [PDF]

, 2011
'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function.
Gleeson, Joseph G, Lee, Ji Eun
core   +1 more source

Laurence-Moon-Bardet-Biedl Syndrome

Journal of Nepal Medical Association, 2008
Laurence-Moon-Bardet-Biedl syndrome is a rare, genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression.
JK Sahu, Vandana Jain
doaj   +1 more source

Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]

, 2019
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A, Calcagni, G, Dallapiccola, B, De Luca, A, Dentici, M L, Digilio, M C, Marino, B, Pugnaloni, F, Tartaglia, M, Versacci, P   +9 more
core   +1 more source

Bardet–Biedl Syndrome—Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype–Phenotype Correlations

Genes, 2021
Bardet–Biedl Syndrome is a rare non-motile primary ciliopathy with multisystem involvement and autosomal recessive inheritance. The clinical picture is extremely polymorphic.
L. Florea, L. Caba, E. Gorduza
semanticscholar   +1 more source

The Leishmania major BBSome subunit BBS1 is essential for parasite virulence in the mammalian host [PDF]

, 2013
Bardet–Biedl syndrome (BBS) is a human genetic disorder with a spectrum of symptoms caused by primary cilium dysfunction. The disease is caused by mutations in one of at least 17 identified genes, of which seven encode subunits of the BBSome, a protein ...
Doehl, Johannes, Farrant, Katie, Hodgkinson, Michael R., Paape, Daniel, Price, Helen P., Smith, Deborah F., Stark, Meg   +6 more
core   +1 more source

A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy [PDF]

, 2017
Progressive retinal atrophy is a common cause of blindness in the dog and affects >100 breeds. It is characterized by gradual vision loss that occurs due to the degeneration of photoreceptor cells in the retina. Similar to the human counterpart retinitis
Bathgate, Roslyn, Chew, Tracy, Haase, Bianca, Kaukonen, Maria K., Lohi, Hannes T., Mascord, Lisa J., Wade, Claire M., Willet, Cali E.   +7 more
core   +4 more sources

Functional modelling of a novel mutation in BBS5. [PDF]

, 2014
BACKGROUND: Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy disorder with 18 known causative genes (BBS1-18). The primary clinical features are renal abnormalities, rod-cone dystrophy, post-axial polydactyly, learning difficulties ...
Al-Fadhly, F., Al-Hamed, M.H., Chrystal, P., El Sayed, R., Eley, L., Hynes, A.M., Meyer, B., Sayer, J.A., Simms, R.J., van Lennep, C.   +9 more
core   +2 more sources

Bardet-Biedl Syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons.

Journal of Clinical Investigation, 2021
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder caused by mutations in genes encoding components of the primary cilium and characterized by hyperphagic obesity. To investigate the molecular basis of obesity in human BBS, we developed a
Liheng Wang, Yang Liu, G. Stratigopoulos, Sunil K. Panigrahi, Lina Sui, Yiying Zhang, C. Leduc, Hannah J. Glover, M. C. De Rosa, Lisa C. Burnett, Damian J. Williams, Linshan Shang, R. Goland, S. Tsang, S. Wardlaw, D. Egli, D. Zheng, Claudia A. Doege, R. Leibel   +18 more
semanticscholar   +1 more source

Prenatal diagnosis of Bardet Biedl Syndrome: A case report

Radiology Case Reports, 2023
The Bardet-Biedl Syndrome (BBS), also called Laurence-Moon-Bardet-Biedl syndrome is a rare ciliopathic autosomal recessive genetic defect. BBS phenotype develops over the years and diagnosis is usually made in late childhood or early adulthood.
Ena Arora, MD, Aleksandr Fuks, MD, Jessica Meyer, MD, Judith Chervenak, MD   +3 more
doaj   +1 more source