Results 11 to 20 of about 11,428 (200)
Setmelanotide in Bardet-Biedl Syndrome: A 52-Week Comparison of Phase 3 Trial Participants With a Matched Registry Cohort. [PDF]
Obesity (Silver Spring)ABSTRACT Objective This analysis aimed to assess the efficacy of setmelanotide over 52 weeks in patients with Bardet‐Biedl syndrome (BBS) compared with an external natural history cohort from the international Clinical Registry Investigating BBS (CRIBBS).
Argente J +7 more
europepmc +2 more sources
Ciliary signaling proteins are mislocalized in the brains of Bardet-Biedl syndrome 1-null mice
Frontiers in Cell and Developmental Biology, 2023 In the brain, primary cilia are found on most, if not all, central neurons. The importance of neuronal cilia is underscored by the fact that human diseases caused by primary cilia dysfunction, which are known as ciliopathies, are associated with ...
Toneisha Stubbs +3 more
doaj +1 more source
Recurrent pericarditis in a patient with Bardet–Biedl syndrome: A case report
Frontiers in Pediatrics, 2022 Bardet–Biedl syndrome is a rare autosomal recessive disorder characterized by rod-cone dystrophy, renal dysfunction, obesity, learning difficulties, hypogonadism, polydactyl, and many other minor features that can affect the cardiovascular, locomotive ...
Angela Mauro +8 more
doaj +1 more source
Bardet–Biedl syndrome: a case series
Journal of Medical Case Reports, 2022 Background Bardet–Biedl syndrome is a rare multisystem autosomal recessive disorder that falls under the spectrum of ciliopathy disorders. It is characterized by rod–cone dystrophy, renal malformations, polydactyly, learning difficulties, central obesity,
Omer Ali Mohamed Ahmed Elawad +13 more
doaj +1 more source
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2021 The Bardet–Biedl syndrome is a rare autosomal recessive disease of the group of ciliopathies with polymorphic clinical symptomsincluding the retinal degeneration, obesity, polydactyly, mental retardation, hypogonadism, and renal dysfunction. The Pleiotropic effects are caused by the defects in genes encoding the proteins responsible for the functioning
E. A. Potrokhova +4 more
openaire +2 more sources
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
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