Erratum: Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome

Nature Cell Biology 19, 1379 (2017). doi:10.1038/ncb3622 Author: Xiaoyu Shi, Galo Garcia, Julie C. Van De Weghe, Ryan McGorty, Gregory J. Pazour, Dan Doherty, Bo Huang &Jeremy F. Reiter
Source: Nature Cell Biology - Category: Cytology Authors: Tags: Erratum Source Type: research

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This study shows how two independent mutations can interact leading to complex brain malformations.
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research
Ciliopathies are clinical disorders of the primary cilium with widely recognized phenotypic and genetic heterogeneity. In two Arab consanguineous families, we mapped a ciliopathy phenotype that most closely matches Joubert syndrome (hypotonia, developmental delay, typical facies, oculomotor apraxia, polydactyly, and subtle posterior fossa abnormalities) to a single locus in which a founder homozygous truncating variant in FAM149B1 was identified by exome sequencing. We subsequently identified a third Arab consanguineous multiplex family in which the phenotype of Joubert syndrome/oral-facial-digital syndrome (OFD VI) was fo...
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Report Source Type: research
AbstractJoubert syndrome is a rare brainstem malformation characterized by hypoplastic vermis, thickened and elongated superior cerebellar peduncles, abnormally shaped 4th ventricle which may be associated with renal, ocular, hepatic orodigitofacial and cranial abnormalities and can be diagnosed on prenatal ultrasound and now is considered a part of Joubert syndrome and related syndromes (JSRD). Two prenatally detected cases of JSRD presented here expand the spectrum of sonological signs which should prompt a fetal medicine specialist to suspect JSRD.
Source: Journal of Fetal Medicine - Category: Perinatology & Neonatology Source Type: research
Tim Ott, Lilian Kaufmann, Martin Granzow, Katrin Hinderhofer, Claus R. Bartram, Susanne Thei ß, Angelika Seitz, Nagarajan Paramasivam, Angela Schulz, Ute Moog, Martin Blum, Christina M. Evers
Source: Frontiers in Physiology - Category: Physiology Source Type: research
Phosphoinositides (PIs) play pivotal roles in the regulation of many biological processes. The quality and quantity of PIs is regulated in time and space by the activity of PI kinases and PI phosphatases. The number of PI-metabolizing enzymes exceeds the number of PIs with, in many cases, more than one enzyme controlling the same biochemical step. This would suggest that the PI system has an intrinsic ability to buffer and compensate for the absence of a specific enzymatic activity. However, there are several examples of severe inherited human diseases caused by mutations in one of the PI enzymes, although other enzymes wi...
Source: The Journal of Lipid Research - Category: Lipidology Authors: Tags: Thematic Reviews Source Type: research
Genetic treatments of renal ciliopathies leading to cystic kidney disease would provide a real advance in current therapies. Mutations in CEP290 underlie a ciliopathy called Joubert syndrome (JBTS). Human disease phenotypes include cerebral, retinal, and renal disease, which typically progresses to end stage renal failure (ESRF) within the first two...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: Biological Sciences Source Type: research
In conclusion, Joubert syndrome is a rare pleiotropic group of disorders with variable ocular presentations.
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Review Source Type: research
Cilia, essential motile and sensory organelles, have several compartments: the basal body, transition zone, and the middle and distal axoneme segments. The distal segment accommodates key functions, including cilium assembly and sensory activities. While the middle segment contains doublet microtubules (incomplete B-tubules fused to complete A-tubules), the distal segment contains only A-tubule extensions, and its existence requires coordination of microtubule length at the nanometer scale. We show that three conserved proteins, two of which are mutated in the ciliopathy Joubert syndrome, determine the geometry of the dist...
Source: Journal of Cell Biology - Category: Cytology Authors: Tags: Disease, Cytoskeleton, Cilia Articles Source Type: research
El Hayek S Abstract Joubert syndrome (JS) is an autosomal or X-linked recessive syndrome principally characterized by hypotonia, ataxia, cognitive impairment, and a specific finding on brain imaging called a "molar tooth sign" (MTS), which can be isolated or in conjunction with variable organ involvement. The genetic basis of JS is heterogeneous, with over 35 ciliary genes being implicated in its pathogenesis. However, some of these genes (such as PDE6D) have been associated to JS only in single families, seeking confirmation. Here we report a boy, born to first cousin parents, presenting with developme...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
This five-month-old girl with tetralogy of Fallot showed constant rapid movements to right or left one week after birth. Therefore, her parents could not establish eye contact with her. After four months, she began thrusting her head from left to right when following target objects (Fig. 1 and 2). Her limb movements did not exhibit ataxia or tremor. Ophthalmological examination did not show any abnormalities in the retina. Electroencephalography and visual evoked potentials were normal. Brain magnetic resonance imaging did not show any abnormalities, such as elongated superior cerebellar peduncles or hypoplasia of the cere...
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Visual Diagnosis Source Type: research
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