Results 21 to 30 of about 1,464 (120)
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
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Audiology Research, 2022 Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed in some cases.
Alessandro Castiglione, Claes Möller
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EBioMedicine, 2021 Background: Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy ...
Jonathan Eintracht +3 more
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Insights into the Regulation of Ciliary Disassembly
Cells, 2021 The primary cilium, an antenna-like structure that protrudes out from the cell surface, is present in most cell types. It is a microtubule-based organelle that serves as a mega-signaling center and is important for sensing biochemical and mechanical ...
Maulin M. Patel, Leonidas Tsiokas
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Review on Genes related to Postaxial Polydactyly
Frontiers in Pediatrics, 2015 Background: Postaxial polydactyly (PAP) is one of the commonest congenital malformations and usually is associated to several syndromes . There is no primary investigational strategy for PAP cases with single gene disorder in literature.
Ashraf AbdulRahman El-Harouni +1 more
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AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE
Slovenska pediatrija, 2022 Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy caused by mutations in the PKHD1 gene, which encodes the membrane protein fibrocystin/polyductin.
Anja Fon Gabršček, Rina Rus
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Frontiers in Pediatrics, 2023 IntroductionBardet-Biedl syndrome (BBS) is a rare genetic syndrome caused by a mutation in one of 26 different genes responsible for normal structure and/or function of primary cilia.
Ana Simičić Majce +11 more
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A centriole's subdistal appendages: contributions to cell division, ciliogenesis and differentiation [PDF]
Open Biology, 2021 The centrosome is a highly conserved structure composed of two centrioles surrounded by pericentriolar material. The mother, and inherently older, centriole has distal and subdistal appendages, whereas the daughter centriole is devoid of these appendage ...
Nicole A. Hall, Heidi Hehnly
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Počki, 2016 Primary cilia — the cellular organelles derived from cytoplasmic cell membrane of almost any type. They play a role in the perception and the transfer of mechanical and chemical signals from the surface of cells, orientation of division plane ...
O.O. Diadyk +2 more
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eLife, 2018 Oligomeric assemblies of intraflagellar transport (IFT) particles build cilia through sequential recruitment and transport of ciliary cargo proteins within cilia.
Michael Taschner +8 more
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