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

Related Links:

Ultrasound in Obstetrics&Gynecology,Volume 52, Issue S1, Page 233-233, October 2018.
Source: Ultrasound in Obstetrics and Gynecology - Category: Radiology Authors: Source Type: research
Clinical Case Reports, EarlyView.
Source: Clinical Case Reports - Category: General Medicine Authors: Source Type: research
Primary cilium is a ubiquitous, tiny organelle on the apex of the mammalian cells. Non-motile (primary) ciliopathies are diseases caused by the dysfunction of the primary cilium and they are characterized by diverse clinical and genetic heterogeneity. To date, nearly 200 genes have been shown to be associated with primary ciliopathies. Among them, tectonic genes are the important causative genes of ciliopathies. Tectonic proteins including TCTN1, TCTN2, and TCTN3 are important component proteins residing at the transition zone of cilia. Indeed, many ciliopathies have been reported to involve tectonics mutations, highlighti...
Source: Cellular Physiology and Biochemistry - Category: Cytology Source Type: research
Joubert syndrome (JBTS) is a genetically heterogeneous autosomal-recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated with pathogenic variants in known JBTS-associated genes. Combined autozygosity mapping of both families highlighted a candidate locus on chromosome 10 (chr10: 101569997 –109106128, UCSC Genome Browser hg 19), and exome sequencing revealed two missense variants in ARL3 within the candidate locus.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Report Source Type: research
10-year-old male and 8-year-old female siblings presented for developmental evaluation and insomnia. Both were term babies with no prenatal or post-natal complications. In early infancy daytime abnormal respiratory patterns existed with episodes of rapid breathing and apnea. These resolved in the brother only. Frequent nighttime awakenings occurred with no snoring. On examination, they had normal BMI, dysmorphic features including hypertelorism, small earlobes, broad mouth, intermittent tongue protrusion and anteverted nostrils.
Source: Sleep Medicine - Category: Sleep Medicine Authors: Tags: Images in Sleep Medicine Source Type: research
(St. Jude Children's Research Hospital) The research will not only aid basic understanding of brain development, but also provide a foundation for understanding the cellular origins of brain disorders caused by errors in development. These anatomical defects include Joubert syndrome, Dandy-Walker malformation and pontocerebellar hypoplasia. The database will enable future studies tracing the cellular origins of childhood brain tumors such as medulloblastoma, astrocytoma and ependymoma.Researchers worldwide can interact with the data via an interface St. Jude has created called Cell Seek.
Source: EurekAlert! - Biology - Category: Biology Source Type: news
ConclusionsTo our knowledge, macular staphyloma has not been described before in JS. Further work is warranted to assess the true prevalence of staphyloma in JS and its connection to retinal dystrophy.
Source: Documenta Ophthalmologica - Category: Opthalmology Source Type: research
Publication date: September 2018Source: Gene Expression Patterns, Volume 29Author(s): Ping Song, Brian D. PerkinsAbstractMembers of the Arf-like (Arl) family of small GTP-binding proteins regulate a number of cellular functions and play important roles in cilia structure and signaling. The small GTPase Arl13a is a close paralog to Arl13b, a small GTPase required for normal cilia formation that causes Joubert Syndrome when mutated. As mutation of arl13b causes a slow retinal degeneration in zebrafish (Song et al., 2016), we hypothesized that expression of arl13a may provide functional redundancy. We determined the expressio...
Source: Gene Expression Patterns - Category: Genetics & Stem Cells Source Type: research
Abstract Members of the Arf-like (Arl) family of small GTP-binding proteins regulate a number of cellular functions and play important roles in cilia structure and signaling. The small GTPase Arl13a is a close paralog to Arl13b, a small GTPase required for normal cilia formation that causes Joubert Syndrome when mutated. As mutation of arl13b causes a slow retinal degeneration in zebrafish (Song et al., 2016), we hypothesized that expression of arl13a may provide functional redundancy. We determined the expression domains of arl13a and arl13b during zebrafish development and examined subcellular localization by ex...
Source: Gene Expression Patterns : GEP - Category: Genetics & Stem Cells Authors: Tags: Gene Expr Patterns Source Type: research
Publication date: July 2018Source: Journal of Structural Biology, Volume 203, Issue 1Author(s): Ashwani Sharma, Samuel F. Gerard, Natacha Olieric, Michel O. SteinmetzAbstractCentrioles are microtubule-based structures that play essential roles in cell division and cilia biogenesis. Cep120 is an important protein for correct centriole formation and mutations in the Cep120 gene cause severe human diseases like Joubert syndrome and complex ciliopathies. Here, we show that Cep120 contains three consecutive C2 domains that are followed by a coiled-coil dimerization domain. Surprisingly, unlike the classical C2 domains, all thre...
Source: Journal of Structural Biology - Category: Biology Source Type: research
More News: Biology | Cytology | Joubert Syndrome