Classical Lissencephaly
|
0.400 |
Biomarker
|
disease |
BEFREE |
NuMA1 inhibits the endocytosis of AIS NF186 by impeding Lis1's interaction with doublecortin, a potent facilitator of NF186 endocytosis.
|
31727776 |
2020 |
Classical Lissencephaly
|
0.400 |
Biomarker
|
disease |
BEFREE |
We established human iPSCs from two males with mutated DCX and classical lissencephaly including smooth brain and abnormal cortical morphology.
|
28924182 |
2018 |
Classical Lissencephaly
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our first classification of LIS and subcortical band heterotopia (SBH) was developed to distinguish between the first two genetic causes of LIS-LIS1 (PAFAH1B1) and DCX.
|
28440899 |
2017 |
Classical Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
X-linked isolated lissencephaly sequence and subcortical band heterotopia are allelic human disorders associated with mutations of doublecortin (DCX), giving both familial and sporadic forms.
|
23365099 |
2013 |
Classical Lissencephaly
|
0.400 |
Biomarker
|
disease |
BEFREE |
Incorporation of deletion/duplication analysis of the LIS1 and DCX genes will be important for the molecular diagnosis of patients with ILS and SBH.
|
19050731 |
2009 |
Classical Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
XLIS mutations cause classical lissencephaly in hemizygous males and subcortical band heterotopia in heterozygous females.
|
14617417 |
2003 |
Classical Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The authors describe a large Sardinian family in which three brothers with ILS have a missense mutation of the DCX gene.
|
11468322 |
2001 |
Classical Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
XLIS mutations cause classical lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in heterozygous females.
|
11579436 |
2001 |
Classical Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
LIS1 heterozygous loss-of-function deletions and point mutations, as well as Doublecortin mutations in males, lead to a very similar phenotype, termed type 1 lissencephaly.
|
11262729 |
2001 |
Classical Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Current molecular genetic techniques combined with the identification of affected patients have enabled the detection of two of the genes responsible: LIS1 (PAFAH1B1) on chromosome 17 and DCX (doublecortin) on the X chromosome.
|
10859564 |
2000 |
Classical Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our results indicate that in the Japanese, as has been seen elsewhere, abnormality of the DCX gene is the common cause of SCLH and ILS.
|
10807542 |
2000 |
Classical Lissencephaly
|
0.400 |
Biomarker
|
disease |
BEFREE |
Classical lissencephaly and double cortex (subcortical band heterotopia): LIS1 and doublecortin.
|
10987567 |
2000 |
Classical Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The molecular and genetic basis of DC/ILS is associated with mutations in the X-linked doublecortin gene (DCX).
|
11071144 |
2000 |
Classical Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, it differs in many regards from the X-linked form of isolated lissencephaly sequence that is associated with mutations of the XLIS (DCX) gene.
|
10494089 |
1999 |
Classical Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Direct DNA sequencing of LIS1 and XLIS was performed in 25 children with sporadic LIS and no deletion of LIS1 by fluorescence in situ hybridization.
|
9817918 |
1998 |
Classical 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 |
Classical Lissencephaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A recently identified gene, doublecortin ( DCX ), is expressed in fetal brain and mutated in LIS/SBH patients.
|
9668176 |
1998 |
Classical Lissencephaly
|
0.400 |
Biomarker
|
disease |
CTD_human |
|
|
|