|
PAFAH1B1
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Miller-Dieker syndrome (MDS) is caused by a heterozygous deletion of chromosome 17p13.3 involving the genes LIS1 and YWHAE (coding for 14.3.3ε) and leads to malformations during cortical development.
|
28380362 |
2017 |
|
PAFAH1B1
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In this review, we will discuss how an understanding of the molecular and cellular pathways disrupted in model organisms with Lis1 and Dcx mutations or knock-down not only provide insights into the normal processes of neuronal migration, including neurogenesis, but they also may lead to potential novel therapeutic strategies for these severe cortical malformations.
|
20688183 |
2010 |
|
PAFAH1B1
|
0.100 |
GeneticVariation
|
group |
BEFREE |
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
|
19667223 |
2009 |
|
PAFAH1B1
|
0.100 |
GeneticVariation
|
group |
BEFREE |
However, about 40% of patients with this malformation pattern show no abnormality after fluorescence in situ hybridisation (FISH) analysis of the 17p13.3 region and LIS1 sequencing.
|
18285425 |
2008 |
|
PAFAH1B1
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Neuroanatomical similarities between the Tuba1a mutant mouse and mice deficient for Doublecortin (Dcx) and Lis1 genes, and the well-established functional interaction between DCX and microtubules (MTs), led us to hypothesize that mutations in TUBA1A (TUBA3, previous symbol), the human homolog of Tuba1a, might give rise to cortical malformations.
|
17584854 |
2007 |
|
PAFAH1B1
|
0.100 |
Biomarker
|
group |
BEFREE |
Furthermore, patients presenting with mild cerebral malformations such as subcortical band heterotopia or cerebellar hypoplasia should be considered for genetic analysis of the LIS1 gene.
|
17664403 |
2007 |
|
PAFAH1B1
|
0.100 |
GeneticVariation
|
group |
BEFREE |
LIS1 mutations cause a more severe malformation in the posterior brain regions.
|
16724181 |
2006 |
|
PAFAH1B1
|
0.100 |
GeneticVariation
|
group |
BEFREE |
LIS1 mutations cause a more severe malformation posteriorly.
|
15816977 |
2005 |
|
PAFAH1B1
|
0.100 |
GeneticVariation
|
group |
BEFREE |
LIS1 mutations cause a more severe malformation posteriorly.
|
15921228 |
2005 |
|
PAFAH1B1
|
0.100 |
Biomarker
|
group |
BEFREE |
The authors suggest that the few patients found thus far with missense mutations of LIS1 results from an underascertainment of patients with more subtle malformations and that abnormalities of the LIS1 gene may account for a greater spectrum of neurologic problems in childhood than has previously been appreciated.
|
11502906 |
2001 |
|
PAFAH1B1
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
|
11115846 |
2000 |
|
PAFAH1B1
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We found consistent differences in the gyral patterns, with the malformation more severe posteriorly in individuals with LIS1 mutations and more severe anteriorly in individuals with XLIS mutations.
|
10430413 |
1999 |