Results 1 to 10 of about 2,447,712 (252)

The molecular basis of human retinal and vitreoretinal diseases [PDF]

, 2010
During the last two to three decades, a large body of work has revealed the molecular basis of many human disorders, including retinal and vitreoretinal degenerations and dysfunctions.
Berger, W, Kloeckener-Gruissem, B, Neidhardt, J   +2 more
core   +1 more source

Meta‐analysis of genotype‐phenotype associations in Bardet‐Biedl syndrome uncovers differences among causative genes

Human Mutation, 2019
Bardet‐Biedl syndrome (BBS) is a recessive genetic disease causing multiple organ anomalies. Most patients carry mutations in genes encoding for the subunits of the BBSome, an octameric ciliary transport complex, or accessory proteins involved in the ...
V. Niederlova, Martin Modrák, Oksana Tsyklauri, Martina Huranová, Ondřej Štěpánek   +4 more
semanticscholar   +1 more source

Bardet–Biedl syndrome: The pleiotropic role of the chaperonin‐like BBS6, 10, and 12 proteins

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Bardet–Biedl syndrome (BBS) is a rare pleiotropic disorder known as a ciliopathy. Despite significant genetic heterogeneity, BBS1 and BBS10 are responsible for major diagnosis in western countries.
Neha Gupta, M. D'Acierno, Enrica Zona, G. Capasso, M. Zacchia   +4 more
semanticscholar   +1 more source

Report of four cases of Bardet-Biedl syndrome

Brazilian Journal of Nephrology, 2014
Bardet-Biedl syndrome is rare. Although its diagnosis depends on cardinal clinical manifestations which appear in childhood, we report four cases of Bardet-Biedl syndrome lately diagnosed in a dialysis center.
Paulo Roberto Santos, Diego Levi Silveira Monteiro, Paulo Henrique Alexandre de Paula, Vicente Lopes Monte Neto   +3 more
doaj   +1 more source

Weight loss with glucagon‐like peptide‐1 receptor agonists in Bardet‐Biedl syndrome

Clinical Obesity, 2022
Bardet–Biedl syndrome (BBS) is a rare genetic condition, characterized by ciliary protein dysfunction, leading to multi‐organ damage. People with BBS can develop early‐onset severe obesity and associated problems including the metabolic syndrome, type 2 ...
Shawg Ganawa, S. Santhosh, L. Parry, A. Syed   +3 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

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort

Genes, 2022
The aim of this study was to characterize the ophthalmic and genetic features of Bardet Biedl (BBS) syndrome in a cohort of patients from a German specialized ophthalmic care center.
Fadi Nasser, S. Kohl, A. Kurtenbach, Melanie Kempf, S. Biskup, Theresia Zuleger, T. Haack, N. Weisschuh, K. Stingl, E. Zrenner   +9 more
semanticscholar   +1 more source

Crystal structure of the small GTPase Arl6/BBS3 from Trypanosoma brucei [PDF]

, 2012
Arl6/BBS3 is a small GTPase, mutations in which are implicated in the human ciliopathy Bardet–Biedl Syndrome (BBS). Arl6 is proposed to facilitate the recruitment of a large protein complex known as the BBSome to the base of the primary cilium, mediating
Antonny, Ashkenazy, Beck, Beck, Berbari, Bhamidipati, Bond, Branche, Broadhead, Cevik, Chakrabarti, Chiang, Cook, Cowtan, Daumke, Davis, Der, Di Tommaso, Domire, Dundas, Eisenhaber, Emsley, Engstler, Fan, Fliegauf, Forsythe, Gasper, Ginger, Hill, Iqbal, Jin, Kabsch, Keegan, Kobayashi, Krissinel, Krissinel, Loktev, Lu, Maurer-Stroh, McNicholas, Murshudov, Nachury, Nakae, Ou, Panjkovich, Price, Ralston, Rodnina, Scrima, Simarro, Vetter, Vickerman, Vickerman, Vogel, Wei, Wiens, Winn, Wittinghofer, Zhang   +58 more
core   +1 more source

Bardet–Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self‐tolerance

EMBO Reports, 2021
Bardet–Biedl Syndrome (BBS) is a pleiotropic genetic disease caused by the dysfunction of primary cilia. The immune system of patients with ciliopathies has not been investigated.
Oksana Tsyklauri, V. Niederlova, E. Forsythe, Avishek Prasai, A. Drobek, P. Kašpárek, K. Sparks, Z. Trachtulec, J. Procházka, R. Sedláček, P. Beales, Martina Huranová, Ondřej Štěpánek   +12 more
semanticscholar   +1 more source

Hirschsprung disease, associated syndromes and genetics: A review [PDF]

, 2008
Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births.
Amiel, J, Antinolo, G, Arnold, S, Borrego, S, Brooks, AS, Burzynski, G, Ceccherini, I, Chakravarti, A, ClementZiza, M, De Pontual, L, Fernandez, R, GarciaBarcelo, M, Griseri, P, Hofstra, RMW, Kashuk, C, Lantieri, F, Lyonnet, S, Miao, X, Munnich, A, Pelet, A, SproatEmison, E, Tam, PKH, West, K, Wong, KKY   +23 more
core   +5 more sources