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:

We present a large cohort of 59 patients with JS from 55 families. Molecular analysis was performed in 35 families (trio).
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Research Paper Source Type: research
Joubert syndrome is a genetically heterogeneous autosomal recessive ciliopathy characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar pedun...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research
Genetic and phenotypic heterogeneity and the lack of sufficiently large patient cohorts pose a significant challenge to understanding genetic associations in rare disease. Here we identify Bsnd (alias Barttin) as a genetic modifier of cystic kidney disease in Joubert syndrome, using a Cep290-deficient mouse model to recapitulate the phenotypic variability...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: Biological Sciences Source Type: research
The Dynamic and Complex Role of the Joubert Syndrome-Associated Ciliary Protein, ADP-Ribosylation Factor-Like GTPase 13B (ARL13B) in Photoreceptor Development and Maintenance. Adv Exp Med Biol. 2019;1185:501-505 Authors: Dilan T, Ramamurthy V Abstract Photoreceptor neurons are modified primary cilia with an extended ciliary compartment known as the outer segment (OS). The mechanism behind the elaboration of photoreceptor cilia and OS morphogenesis remains poorly understood. In this review, we discuss the role of ADP-ribosylation factor-like GTPase 13B (ARL13B), a small GTPase in OS morphogenesis a...
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research
PMID: 31856927 [PubMed - as supplied by publisher]
Source: The Canadian Journal of Neurological Sciences - Category: Neurology Authors: Tags: Can J Neurol Sci Source Type: research
Abstract Appropriate axonal growth and connectivity are essential for functional wiring of the brain. Joubert syndrome-related disorders (JSRD), a group of ciliopathies in which mutations disrupt primary cilia function, are characterized by axonal tract malformations. However, little is known about how cilia-driven signaling regulates axonal growth and connectivity. We demonstrate that the deletion of related JSRD genes, Arl13b and Inpp5e, in projection neurons leads to de-fasciculated and misoriented axonal tracts. Arl13b deletion disrupts the function of its downstream effector, Inpp5e, and deregulates cili...
Source: Developmental Cell - Category: Cytology Authors: Tags: Dev Cell Source Type: research
With the increasing availability and clinical use of exome and whole-genome sequencing, reverse phenotyping is now becoming common practice in clinical genetics. Here, we report a patient identified through the Wellcome Trust Deciphering Developmental Disorders study who has homozygous pathogenic variants in CC2D2A and a de-novo heterozygous pathogenic variant in KIDINS220. He presents with developmental delay, intellectual disability, and oculomotor apraxia. Reverse phenotyping has demonstrated that he likely has a composite phenotype with contributions from both variants. The patient is much more mildly affected than tho...
Source: Clinical Dysmorphology - Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
We present the clinical characteristics of a eighth such patient. This 4 year-old boy with narrow thorax, short limbs, severe respiratory and feeding difficulties from birth on had a history of hypotonia and developmental delay. On skeletal survey, short tubular bones (height - 5,5 SD) and a trident appearance of the pelvis were seen. Brain MRI showed cervical canal stenosis. Renal function was normal and moderate hepatomegaly was noted. A homozygous c.943C > T mutation in KIAA0753 was identified on whole exome sequencing, resulting in Gln315Ter premature termination of the corresponding protein. This case provides ...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
Abstract Fetal neurosonography and the assessment of the posterior fossa have gained in importance during the last 2 decades primarily due to the development of high-resolution ultrasound probes and the introduction of 3 D sonography. The anatomical development of the posterior fossa can be visualized well with the newest ultrasound technologies. This allows better knowledge of the anatomical structures and helps with understanding of the development of malformations of the posterior fossa. In this article the longitudinal development of the posterior fossa structures will be reviewed. The embryologic descriptio...
Source: Ultraschall in der Medizin - Category: Radiology Authors: Tags: Ultraschall Med Source Type: research
ConclusionOur study reported the fourth case of JS patients withCEP104 mutations, which expands the mutation spectrum ofCEP104 and elucidates the clinical heterogeneity of JS.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
More News: Biology | Cytology | Joubert Syndrome