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A novel missense variant in the gene in sheep with lissencephaly and cerebellar hypoplasia.
Vet Pathol
October 2024
Elizabeth Macarthur Agricultural Institute, NSW Department of Primary Industries and Regional Development, Menangle, NSW, Australia.
Lissencephaly and cerebellar hypoplasia (LCH) represents a spectrum of congenital developmental malformations of the cerebral cortex and cerebellum, mostly occurring as inherited conditions caused by variants in an increasingly recognized number of genes. LCH has been identified in three Dorset-cross lambs with congenital neurological signs in Australia. Lambs were unable to walk and had reduced vision, and one lamb developed a hypermetric gait and intention tremors.
View Article and Find Full Text PDFDe novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism.
J Clin Invest
July 2024
Université Paris Cité, Institute of Psychiatry and Neuroscience of Paris, INSERM U1266, and.
Reelin (RELN) is a secreted glycoprotein essential for cerebral cortex development. In humans, recessive RELN variants cause cortical and cerebellar malformations, while heterozygous variants were associated with epilepsy, autism, and mild cortical abnormalities. However, the functional effects of RELN variants remain unknown.
View Article and Find Full Text PDFExome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.
Mol Genet Genomics
May 2024
Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.
Neurodevelopmental disorders (NDDs) are a clinically and genetically heterogeneous group of early-onset pediatric disorders that affect the structure and/or function of the central or peripheral nervous system. Achieving a precise molecular diagnosis for NDDs may be challenging due to the diverse genetic underpinnings and clinical variability. In the current study, we investigated the underlying genetic cause(s) of NDDs in four unrelated Pakistani families.
View Article and Find Full Text PDFReelin links Apolipoprotein E4, Tau, and Amyloid-β in Alzheimer's disease.
Ageing Res Rev
July 2024
National Neuroscience Institute of Singapore, 11 Jalan Tan Tock Seng, Singapore 30843, Singapore; Signature Research Program in Neuroscience and Behavioral Disorders, Duke-NUS Medical School, 8 College Road, Singapore 169857, Singapore. Electronic address:
Alzheimer's disease (AD) is the most common neurodegenerative disorder that affects the cerebral cortex and hippocampus, and is characterised by progressive cognitive decline and memory loss. A recent report of a patient carrying a novel gain-of-function variant of RELN (H3447R, termed RELN-COLBOS) who developed resilience against presenilin-linked autosomal-dominant AD (ADAD) has generated enormous interest. The RELN-COLBOS variant enhances interactions with the apolipoprotein E receptor 2 (ApoER2) and very-low-density lipoprotein receptor (VLDLR), which are associated with delayed AD onset and progression.
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