|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare neurological degenerative disorder caused by the mutations of MLC1 or GLIALCAM with autosomal recessive or autosomal dominant inheritance and a different prognosis, characterized by macrocephaly, delayed motor and cognitive development, and bilateral abnormal signals in cerebral white matter (WM) with or without cysts on magnetic resonance imaging (MRI).
|
31372844 |
2019 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
Biomarker
|
disease |
BEFREE |
Megalencephalic Leukoencephalopathy with Subcortical Cysts Protein-1 (MLC1) Counteracts Astrocyte Activation in Response to Inflammatory Signals.
|
31209783 |
2019 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We included 204 patients with classic MLC, 187 of whom had recessive mutations in <i>MLC1</i> (MLC1 variant) and 17 in <i>GLIALCAM</i> (MLC2A variant) and 38 patients with remitting MLC caused by dominant <i>GLIALCAM</i> mutations (MLC2B variant).
|
29661901 |
2018 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy caused by mutations in either MLC1 or GLIALCAM genes.
|
30076890 |
2018 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts.
|
29466841 |
2018 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mlc1 is a causative gene for megalencephalic leukoencephalopathy with subcortical cysts, and is expressed in astrocytes.
|
29920672 |
2018 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
Biomarker
|
disease |
BEFREE |
Recent studies in Mlc1-, GlialCAM- and Clcn2-knockout mice or Mlc1-knockout zebrafish have provided fresh insight into the pathophysiology of MLC and further details about the molecular interactions between these three proteins.
|
29079544 |
2018 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
Biomarker
|
disease |
MGD |
Megalencephalic leukoencephalopathy with cysts: the Glialcam-null mouse model.
|
28695146 |
2017 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy caused by mutations in either MLC1 or GLIALCAM.
|
28398517 |
2017 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China.
|
28588848 |
2017 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We analyzed MLC1 mutations in five unrelated Korean patients with MLC.
|
28840990 |
2017 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
Biomarker
|
disease |
BEFREE |
Megalencephalic leukoencephalopathy with subcortical cysts 1 (Mlc1) is a transmembrane protein that is expressed in perivascular astrocyte end feet where it controls BBB development and homeostasis.
|
28929580 |
2017 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research.
|
27322623 |
2016 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
Biomarker
|
disease |
MGD |
Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle.
|
25382142 |
2015 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.
|
25497041 |
2015 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS WITH HOMOZYGOUS MUTATION (C.448DELC, P.LEU150 SER FSX11) ON EXON 6 OF MLC1 GENE.
|
26349194 |
2015 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MLC1(22q13.33) and GLIALCAM have been identified in patients with MLC.
|
25497041 |
2015 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.
|
25497041 |
2015 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran.
|
25767710 |
2015 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal-recessive mutations in MLC1 cause MLC type 1, and autosomal-recessive or dominant mutations in HEPACAM (also called GLIALCAM) cause MLC type 2A and type 2B, respectively.
|
25044933 |
2014 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a heterogeneous neurodegenerative leukodystrophy caused by recessive mutations in MLC1 or GLIALCAM (types MLC1 and MLC2A) of by dominant mutations in GLIALCAM (MLC2B).
|
24202401 |
2014 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts.
|
27081509 |
2014 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
Biomarker
|
disease |
BEFREE |
In order to investigate whether the relationship between Mlc1 and GlialCAM is species-specific, we first identified MLC-related genes in zebrafish and generated an mlc1(-/-) zebrafish.
|
24824219 |
2014 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our data unmask an unforeseen functional relationship between MLC1 and ClC-2 in vivo, which is probably mediated by GlialCAM, and suggest that ClC-2 participates in the pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts.
|
24647135 |
2014 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts.
|
23851226 |
2013 |