Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.R303*
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DCX

NM_001195553.2:p.R303*

Associated Papers

"Hair-on-end" appearance in thickened cortex in a case of classic lissencephaly due to DCX gene mutation.

Peer S et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia.

Procopio R et al.

International Journal of Molecular Sciences, 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

Doublecortin engages the microtubule lattice through a cooperative binding mode involving its C-terminal domain.

Rafiei A et al.

Elife, 2022

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Di Donato N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29671837 (PubMed )
Supplement: NIHMS934304-supplement-Supplementary_table_2.pdf

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

Bahi-Buisson N et al.

Brain : a Journal of Neurology, 2013

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

Friocourt G et al.

Acta Neuropathologica, 2011

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

Multisite phosphorylation of doublecortin by cyclin-dependent kinase 5.

Graham ME et al.

The Biochemical Journal, 2004

Different clinical and morphological phenotypes in monozygotic twins with identical DCX mutation.

Martin P et al.

Journal of Neurology, 2004

Identification of neurabin II as a novel doublecortin interacting protein.

Tsukada M et al.

Mechanisms of Development, 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

Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.

Gleeson JG et al.

American Journal of Human Genetics, 2000

Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence.

Sakamoto M et al.

Journal of Human Genetics, 2000

A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia.

Kato M et al.

Human Genetics, 1999

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.

Pilz DT 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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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."