Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.R89G
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DCX

NM_001195553.2:p.R89G

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 reinforces microtubules to promote growth cone advance in soft environments.

Dema A et al.

Current Biology : Cb, 2024

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

Pathogenic E2K mutation of doublecortin X (DCX) alters microtubule stabilisation and actin filament association.

Moslehi M et al.

Biochemical and Biophysical Research Communications, 2019

A dominant dendrite phenotype caused by the disease-associated G253D mutation in doublecortin (DCX) is not due to its endocytosis defect.

Yap CC et al.

The Journal of Biological Chemistry, 2018

An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis.

Shahsavani M et al.

Molecular Psychiatry, 2018

Different Doublecortin (DCX) Patient Alleles Show Distinct Phenotypes in Cultured Neurons: EVIDENCE FOR DIVERGENT LOSS-OF-FUNCTION AND "OFF-PATHWAY" CELLULAR MECHANISMS.

Yap CC et al.

The Journal of Biological Chemistry, 2016

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

Doublecortin (DCX) mediates endocytosis of neurofascin independently of microtubule binding.

Yap CC et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2012

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

Missense mutations resulting in type 1 lissencephaly.

Reiner O et al.

Cellular and Molecular Life Sciences : Cmls, 2005

Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration.

Tanaka T et al.

The Journal of Cell Biology, 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

Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.

Pilz DT et al.

Human Molecular Genetics, 1999

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