X-Linked Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
|
18685874 |
2008 |
X-Linked Lissencephaly
|
0.400 |
Biomarker
|
disease |
CTD_human |
|
|
|
X-Linked Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The neuronal migration disorders, X-linked lissencephaly syndrome (XLIS) and subcortical band heterotopia (SBH), also called "double cortex", have been linked to missense, nonsense, aberrant splicing, deletion, and insertion mutations in doublecortin (DCX) in families and sporadic cases.
|
16100463 |
2005 |
X-Linked Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the X-linked gene doublecortin lead to "double cortex" syndrome (DC) in females and to X-linked lissencephaly (XLIS) in males.
|
10915612 |
2000 |
X-Linked Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the DCX gene (Xp22.3) cause X-linked lissencephaly in males and double cortex syndrome (DCS) or subcortical band heterotopia (SBH) in females.
|
19619967 |
2010 |
X-Linked Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the X-linked gene doublecortin, which encodes a protein with no dear structural homologues, are found in pedigrees in which affected females show "double cortex" syndrome (DC; also known as subcortical band heterotopia or laminar heterotopia) and affected males show X-linked lissencephaly.
|
9989615 |
1999 |
X-Linked Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in doublecortin (DCX) cause X-linked lissencephaly ("smooth brain") and double cortex syndrome in humans.
|
16530423 |
2006 |
X-Linked Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the genes that encode filamin-1, Lis1 and doublecortin are responsible for X-linked lissencephaly in man, whereas mutations in the genes that encode Cdk5, its activator p35 and the reelin-signaling pathway disturb migration and architectonic development in mice.
|
10826984 |
2000 |
X-Linked Lissencephaly
|
0.400 |
Biomarker
|
disease |
BEFREE |
X linked lissencephaly and subcortical band heterotopia (XLIS/SBH) is a disorder of cortical development, which causes classical lissencephaly with severe mental retardation and epilepsy in hemizygous males and SBH associated with milder mental retardation and epilepsy in heterozygous females.
|
9783706 |
1998 |
X-Linked Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
|
9489700 |
1998 |
X-Linked Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
LIS1 was the first gene cloned that was important for neuronal migration in any organism, and heterozygous mutations or deletions of LIS1 are found in the majority of patients with lissencephaly, while DCX mutations were found in males with X-linked lissencephaly.
|
20688183 |
2010 |
X-Linked Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia.
|
10369164 |
1999 |
X-Linked Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.
|
27292316 |
2016 |
X-Linked Lissencephaly
|
0.400 |
Biomarker
|
disease |
BEFREE |
Recently, a brain specific gene, Doublecortin, was cloned and was shown to have mutations in X-linked lissencephaly and double cortex syndrome.
|
9747029 |
1998 |