Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.R178L
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DCX

NM_001195553.2:p.R178L

Associated Papers

Doublecortin restricts neuronal branching by regulating tubulin polyglutamylation.

Sébastien M et al.

Nature Communications, 2025

Doublecortin reinforces microtubules to promote growth cone advance in soft environments.

Dema A et al.

Biorxiv : the Preprint Server for Biology, 2024

Pseudo-repeats in doublecortin make distinct mechanistic contributions to microtubule regulation.

Manka SW et al.

Embo Reports, 2020

33051979 (PubMed )
Supplement: EMBR-21-e51534-s001.pdf

Doublecortin recognizes the longitudinal curvature of the microtubule end and lattice.

Bechstedt S et al.

Current Biology : Cb, 2014

Molecular basis for specific regulation of neuronal kinesin-3 motors by doublecortin family proteins.

Liu JS et al.

Molecular Cell, 2012

22857951 (PubMed )
Supplement: mmc1.pdf

Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.

Friocourt G et al.

Acta Neuropathologica, 2011

Neuropsychological profile of children with subcortical band heterotopia.

Spencer-Smith M et al.

Developmental Medicine and Child Neurology, 2009

Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature.

Chou A et al.

Clinical Genetics, 2009

Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.

Guerrini R et al.

Annals of Neurology, 2003

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.

Matsumoto N et al.

European Journal of Human Genetics : Ejhg, 2001

Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.

Gleeson JG et al.

Annals of Neurology, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."