On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies
Frontiers in Cell and Developmental Biology, 2021 Ciliopathies are a group of heterogeneous inherited disorders associated with dysfunction of the cilium, a ubiquitous microtubule-based organelle involved in a broad range of cellular functions. Most ciliopathies are syndromic, since several organs whose
Laura Sánchez-Bellver +6 more
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Abnormal photoreceptor outer segment development and early retinal degeneration in kif3a mutant zebrafish [PDF]
, 2016 Photoreceptors are highly specialized sensory neurons that possess a modified primary cilium called the outer segment. Photoreceptor outer segment formation and maintenance require highly active protein transport via a process known as intraflagellar ...
Akhtar +44 more
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Liver Cirrhosis in Woman with Ciliopathy Syndrome
Acta Medica Indonesiana, 2022 Ciliopathy syndrome is a congenital abnormality of structure and/or function of cilia, which causes pleiotropic disorder, including liver cirrhosis.
Syifa Mustika, Dian Hasanah
doaj
Ciliary Hedgehog signaling regulates cell survival to build the facial midline
eLife, 2021 Craniofacial defects are among the most common phenotypes caused by ciliopathies, yet the developmental and molecular etiology of these defects is poorly understood.
Shaun R Abrams, Jeremy F Reiter
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Analysis of cilia dysfunction phenotypes in zebrafish embryos depleted of origin recognition complex factors [PDF]
, 2019 Meier–Gorlin syndrome (MGS) is a rare, congenital primordial microcephalic dwarfism disorder. MGS is caused by genetic variants of components of the origin recognition complex (ORC) consisting of ORC1–6 and the pre-replication complex, which together ...
Casar Tena, Teresa +5 more
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Ciliopathies: The Trafficking Connection [PDF]
Traffic, 2014 The primary cilium (PC) is a very dynamic hair‐like membrane structure that assembles/disassembles in a cell‐cycle‐dependent manner and is present in almost every cell type. Despite being continuous with the plasma membrane, a diffusion barrier located at the ciliary base confers the PC properties of a separate organelle with very specific ...
Kayalvizhi, Madhivanan +1 more
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A family of congenital hepatic fibrosis and atypical retinitis pigmentosa
Clinics and Practice, 2015 Congenital hepatic fibrosis is a rare cause of portal hypertension and esophageal varices in children. We report cases of siblings with biopsy proven congenital hepatic fibrosis and with atypical retinitis pigmentosa.
Sunil Pawar +5 more
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Truncation of POC1A associated with short stature and extreme insulin resistance [PDF]
, 2015 We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three ...
Adams, Claire +29 more
core +3 more sources
Congenital hepatic fibrosis: case report and review of literature
The Pan African Medical Journal, 2021 Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease derived from biliary dysgenesis secondary to ductal plate malformation; it often coexists with Caroli’s disease, von Meyenburg complexes, autosomal dominant polycystic kidney disease
Brahim El Hasbaoui +6 more
doaj +1 more source
The Multifaceted Roles of Primary Cilia in the Development of the Cerebral Cortex
Frontiers in Cell and Developmental Biology, 2021 The primary cilium, a microtubule based organelle protruding from the cell surface and acting as an antenna in multiple signaling pathways, takes center stage in the formation of the cerebral cortex, the part of the brain that performs highly complex ...
Kerstin Hasenpusch-Theil +3 more
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