Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.L309M
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MLC1

NM_015166.4:p.L309M

Associated Papers

Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.

Passchier EMJ et al.

Frontiers in Genetics, 2024

Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis.

van der Knaap MS et al.

The Lancet. Neurology, 2012

Molecular genetic studies in Indian patients with megalencephalic leukoencephalopathy.

Shukla P et al.

Pediatric Neurology, 2011

MLC1 polymorphisms are specifically associated with periodic catatonia, a subgroup of chronic schizophrenia.

Selch S et al.

Biological Psychiatry, 2007

Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.

Ilja Boor PK et al.

Human Mutation, 2006

MLC1 gene is associated with schizophrenia and bipolar disorder in Southern India.

Verma R et al.

Biological Psychiatry, 2005

Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts.

Teijido O et al.

Human Molecular Genetics, 2004

Is the WKL1 gene associated with schizophrenia?

Kaganovich M et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2004

The brain-specific protein MLC1 implicated in megalencephalic leukoencephalopathy with subcortical cysts is expressed in glial cells in the murine brain.

Schmitt A et al.

Glia, 2003

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.

Patrono C et al.

Neurology, 2003

The genomic organization of the murine Mlc1 (Wkl1, KIAA0027) gene.

Steinke V et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2003

Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

Rubie C et al.

Human Mutation, 2003

Reduced amplification efficiency of KIAA0027/MLC1 alleles: implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts.

Bettecken T et al.

Molecular and Cellular Probes, 2002

A novel polymorphism in exon 11 of the WKL1 gene, shows no association with schizophrenia.

McQuillin A et al.

European Journal of Human Genetics : Ejhg, 2002

Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.

Leegwater PA et al.

Human Genetics, 2002

No missense mutation of WKL1 in a subgroup of probands with schizophrenia.

Devaney JM et al.

Molecular Psychiatry, 2002

A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree.

Meyer J et al.

Molecular Psychiatry, 2001

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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."