Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.R192W
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DCX

NM_001195553.2:p.R192W

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

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

DCX variants in two unrelated Chinese families with subcortical band heterotopia: Two case reports and review of literature.

Gao C et al.

Heliyon, 2023

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

Early-Life Epilepsies and the Emerging Role of Genetic Testing.

Berg AT et al.

Jama Pediatrics, 2017

Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother.

Takeshita S et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2015

New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.

Bahi-Buisson N et al.

Brain : a Journal of Neurology, 2013

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

The location of DCX mutations predicts malformation severity in X-linked lissencephaly.

Leger PL et al.

Neurogenetics, 2008

Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency.

Kappeler C et al.

The Journal of Comparative Neurology, 2007

Missense mutations resulting in type 1 lissencephaly.

Reiner O et al.

Cellular and Molecular Life Sciences : Cmls, 2005

Mitotic impairment by doublecortin is diminished by doublecortin mutations found in patients.

Couillard-Despres S et al.

Neurogenetics, 2004

The DCX-domain tandems of doublecortin and doublecortin-like kinase.

Kim MH et al.

Nature Structural Biology, 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

Patient mutations in doublecortin define a repeated tubulin-binding domain.

Taylor KR et al.

The Journal of Biological Chemistry, 2000

Colocalization of doublecortin with the microtubules: an ex vivo colocalization study of mutant doublecortin.

Yoshiura K et al.

Journal of Neurobiology, 2000

Doublecortin mutations cluster in evolutionarily conserved functional domains.

Sapir T et al.

Human Molecular Genetics, 2000

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

Gleeson JG et al.

Annals of Neurology, 1999

Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.

Sossey-Alaoui K et al.

Human Molecular Genetics, 1998

doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).

des Portes V et al.

Human Molecular Genetics, 1998

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