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Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook
Therapeutics and Clinical Risk Management, 2023 The Bardet Biedl syndrome (BBS) is a rare inherited disorder considered a model of non-motile ciliopathy. It is in fact caused by mutations of genes encoding for proteins mainly localized to the base of the cilium.
A. Melluso +4 more
semanticscholar +1 more source
A Case Report on the Bardet Biedl Syndrome with Hypokalaemic Paralysis [PDF]
Journal of Clinical and Diagnostic Research, 2013 The Bardet-Biedl syndrome (BBS), a rare autosomal recessive disorder, was first described by Bardet and Biedl in 1920. Here, we are reporting a case of the Bardet-Biedl syndrome with hypokalaemic paralysis.
Prasanth Y.M. +4 more
doaj +1 more source
Advances in Therapy, 2023 Introduction Bardet-Biedl syndrome (BBS) is a rare genetic disease associated with hyperphagia, a pathologic insatiable hunger, due to impaired signaling in the melanocortin-4 receptor (MC4R) pathway.
C. Ervin +7 more
semanticscholar +1 more source
Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing [PDF]
Diabetes & Metabolism Journal, 2015 BackgroundAlström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness.
Min Kyeong Kim +6 more
doaj +1 more source
Nature Communications, 2022 Primary cilia are key sensory organelles whose dysfunction leads to ciliopathy disorders such as Bardet-Biedl syndrome (BBS). Here they identify a role for Bbs1 in lipid homeostasis of photoreceptor outer segments in zebrafish, which may contribute to ...
Markus Masek +10 more
doaj +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 +6 more
core +1 more source
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
Journal of Medical Genetics, 1999 Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction.
P. Beales +4 more
semanticscholar +1 more source
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 +7 more
semanticscholar +1 more source
Genome-wide search for strabismus susceptibility loci. [PDF]
, 2003 The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or ...
Fujiwara, Hirotake +6 more
core +1 more source
Kidney failure in Bardet–Biedl syndrome
Clinical Genetics, 2022 The aim of this study was to explore kidney failure (KF) in Bardet–Biedl syndrome (BBS), focusing on high‐risk gene variants, demographics, and morbidity. We employed the Clinical Registry Investigating BBS (CRIBBS) to identify 44 (7.2%) individuals with
Jennifer R. Meyer +6 more
semanticscholar +1 more source