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Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.
J Med Genet
July 2024
Fralin Biomedical Research Institute at VTC, Roanoke, Virginia, USA
Article Synopsis
- Pontocerebellar hypoplasia (PCH) is linked to mutations in the X-linked CASK gene, causing microcephaly and cerebellar degeneration, particularly in females, while being more lethal in males.
- Researchers created knockout mice to study the impacts of CASK deletion at different developmental stages, revealing that deletion post-adulthood leads to cerebellar degeneration and ataxia but not immediate death.
- Findings suggest that damaging mutations in boys can cause microcephaly and brain dysfunction without PCH, indicating CASK has both shared functions across species and unique roles in the vertebrate brain, particularly in the forebrain and cerebellum.
De novo missense variants in are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.
J Med Genet
October 2021
Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, Angers, France.
Objective: To determine the potential disease association between variants in and complex multisystem neurological and developmental delay phenotypes.
Methods: Here we describe a series of de novo missense variants in in 10 unrelated individuals with overlapping features. Exome sequencing or genome sequencing was performed on all individuals, and the cohort was assembled through GeneMatcher.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
August 2020
Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address:
Article Synopsis
- * Researchers identified 32 individuals with microcephaly, neurodevelopmental issues, and other neurological symptoms due to mutations in NARS1, revealing reduced levels of NARS1 mRNA and enzyme activity in affected cells.
- * The study suggests that these mutations lead to neurodevelopmental diseases through mechanisms like toxic gain-of-function for new mutations and partial loss-of-function for recessive mutations.
Zika Virus Diseases - The New Face of an Ancient Enemy as Global Public Health Emergency (2016): Brief Review and Recent Updates.
Int J Prev Med
February 2017
Department of Pedodontics, Inderprastha Dental College and Hospital, Sahibabad, Ghaziabad, Uttar Pradesh, India.
Zika virus (ZIKV) disease is caused by a virus transmitted by mosquito. It presents as flu-like symptoms lasting for 5-7 days and shows potential association with neurological and autoimmune complications such as congenital microcephaly and adult paralysis disorder, Guillain-Barré syndrome. Treatment measures are conservative as the disease is self-limiting.
View Article and Find Full Text PDF[Zika virus - ancient virus gets new life in a new ecosystem. Microcephaly and Guillain-Barre syndrome are possible consequences when there is no background herd immunity in the population].
Lakartidningen
March 2016
Uppsala universitetet Institutionen for medicinsk biokemi och mikrobiologi - Uppsala, Sweden Uppsala universitetet Institutionen for medicinsk biokemi och mikrobiologi - Uppsala, Sweden.
Zika virus is a mosquito-borne flavivirus transmitted by Aedes mosquitos. The virus was discovered in 1947 in the Zika forest in Uganda. Symptomatic disease is usually mild and is characterized by maculopapular rash, headache, fever, arthralgia and conjunctivitis.
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