Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
Conclusion
These data illustrate the power of linking large-scale genome sequence to phenotype information. They demonstrate the value of research collaborations in order to maximise interpretation of genomic data. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - July 21, 2022 Category: Genetics & Stem Cells Authors: Best, S., Lord, J., Roche, M., Watson, C. M., Poulter, J. A., Bevers, R. P. J., Stuckey, A., Szymanska, K., Ellingford, J. M., Carmichael, J., Brittain, H., Toomes, C., Inglehearn, C., Johnson, C. A., Wheway, G., Genomics England Research Consortium, Ambr Tags: Open access Diagnostics Source Type: research
Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome
Cilia are quasi-ubiquitous microtubule-based sensory organelles, which play vital roles in signal transduction during development and cell homeostasis. Dysfunction of cilia leads to a group of Mendelian disorders called ciliopathies, divided into different diagnoses according to clinical phenotype constellation and genetic causes. Joubert syndrome (JBTS) is a prototypical ciliopathy defined by a diagnostic cerebellar and brain stem malformation termed the “Molar Tooth Sign” (MTS), in addition to which patients display variable combinations of typical ciliopathy phenotypes such as retinal dystrophy, fibrocystic renal di...
Source: Frontiers in Genetics - June 30, 2022 Category: Genetics & Stem Cells Source Type: research
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies
Annu Rev Genomics Hum Genet. 2022 Jun 2. doi: 10.1146/annurev-genom-121321-093528. Online ahead of print.ABSTRACTThe Joubert syndrome (JS), Meckel syndrome (MKS), and nephronophthisis (NPH) ciliopathy spectrum could be the poster child for advances and challenges in Mendelian human genetics over the past half century. Progress in understanding these conditions illustrates many core concepts of human genetics. The JS phenotype alone is caused by pathogenic variants in more than 40 genes; remarkably, all of the associated proteins function in and around the primary cilium. Primary cilia are near-ubiquitous, microtubule-based...
Source: Annual Review of Genomics and Human Genetics - June 2, 2022 Category: Genetics & Stem Cells Authors: Julie C Van De Weghe Arianna Gomez Dan Doherty Source Type: research
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies
Annu Rev Genomics Hum Genet. 2022 Jun 2. doi: 10.1146/annurev-genom-121321-093528. Online ahead of print.ABSTRACTThe Joubert syndrome (JS), Meckel syndrome (MKS), and nephronophthisis (NPH) ciliopathy spectrum could be the poster child for advances and challenges in Mendelian human genetics over the past half century. Progress in understanding these conditions illustrates many core concepts of human genetics. The JS phenotype alone is caused by pathogenic variants in more than 40 genes; remarkably, all of the associated proteins function in and around the primary cilium. Primary cilia are near-ubiquitous, microtubule-based...
Source: Annual Review of Genomics and Human Genetics - June 2, 2022 Category: Genetics & Stem Cells Authors: Julie C Van De Weghe Arianna Gomez Dan Doherty Source Type: research
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies
Annu Rev Genomics Hum Genet. 2022 Jun 2. doi: 10.1146/annurev-genom-121321-093528. Online ahead of print.ABSTRACTThe Joubert syndrome (JS), Meckel syndrome (MKS), and nephronophthisis (NPH) ciliopathy spectrum could be the poster child for advances and challenges in Mendelian human genetics over the past half century. Progress in understanding these conditions illustrates many core concepts of human genetics. The JS phenotype alone is caused by pathogenic variants in more than 40 genes; remarkably, all of the associated proteins function in and around the primary cilium. Primary cilia are near-ubiquitous, microtubule-based...
Source: Annual Review of Genomics and Human Genetics - June 2, 2022 Category: Genetics & Stem Cells Authors: Julie C Van De Weghe Arianna Gomez Dan Doherty Source Type: research
BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to IFT turnaround involving ICK/CILK1
Mol Biol Cell. 2022 May 24:mbcE22030089. doi: 10.1091/mbc.E22-03-0089. Online ahead of print.ABSTRACTPrimary cilia are antenna-like organelles that contain specific proteins, and are crucial for tissue morphogenesis. Anterograde and retrograde trafficking of ciliary proteins are mediated by the intraflagellar transport (IFT) machinery. BROMI/TBC1D32 interacts with CCRK/CDK20, which phosphorylates and activates the ICK/CILK1 kinase, to regulate the change in direction of the IFT machinery at the ciliary tip. Mutations in BROMI, CCRK, and ICK in humans cause ciliopathies, and mice defective in these genes are also known to d...
Source: Mol Biol Cell - May 24, 2022 Category: Molecular Biology Authors: Yuuki Satoda Tatsuro Noguchi Taiju Fujii Aoi Taniguchi Yohei Katoh Kazuhisa Nakayama Source Type: research
BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to IFT turnaround involving ICK/CILK1
Mol Biol Cell. 2022 May 24:mbcE22030089. doi: 10.1091/mbc.E22-03-0089. Online ahead of print.ABSTRACTPrimary cilia are antenna-like organelles that contain specific proteins, and are crucial for tissue morphogenesis. Anterograde and retrograde trafficking of ciliary proteins are mediated by the intraflagellar transport (IFT) machinery. BROMI/TBC1D32 interacts with CCRK/CDK20, which phosphorylates and activates the ICK/CILK1 kinase, to regulate the change in direction of the IFT machinery at the ciliary tip. Mutations in BROMI, CCRK, and ICK in humans cause ciliopathies, and mice defective in these genes are also known to d...
Source: Mol Biol Cell - May 24, 2022 Category: Molecular Biology Authors: Yuuki Satoda Tatsuro Noguchi Taiju Fujii Aoi Taniguchi Yohei Katoh Kazuhisa Nakayama Source Type: research
Joubert syndrome and neurofibromatosis type 1
Rev Neurol. 2022 May 1;74(9):312-313. doi: 10.33588/rn.7409.2021446.NO ABSTRACTPMID:35484703 | DOI:10.33588/rn.7409.2021446 (Source: Revista de Neurologia)
Source: Revista de Neurologia - April 29, 2022 Category: Neurology Authors: M E V ázquez-López M Silveira-Cancela L Loidi-Fern ández L P érez-Gay P Pena-Gil C Juberias-Alzueta R P érez-Pacín Source Type: research
