|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.
|
6476009 |
1984 |
|
Lissencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
|
7907669 |
1993 |
|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
Therefore, LIS1 remains the strongest candidate gene for the lissencephaly phenotype in ILS and MDS.
|
9063734 |
1997 |
|
Lissencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
|
9063735 |
1997 |
|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
MGD |
Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality.
|
9697693 |
1998 |
|
Lissencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
As sequence analysis of the parental chromosomes in the vicinity of the breakpoint identified no additional putative transcripts, haploinsufficiency of the LIS1 gene is likely to be solely responsible for the patient's lissencephaly.
|
9760204 |
1998 |
|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
LIS1 is a genetic entity that is responsible for lissencephaly.
|
9860301 |
1998 |
|
Lissencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Thus, mutations of LIS1 are associated with a posterior-to-anterior gradient of lissencephaly, whereas mutations of XLIS are associated with an anterior-to-posterior gradient.
|
10430413 |
1999 |
|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
MGD |
Impaired learning and motor behavior in heterozygous Pafah1b1 (Lis1) mutant mice.
|
10541472 |
1999 |
|
Lissencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that the lissencephaly severity in ILS caused by LIS1 mutations may be predicted by the type and location of the mutation.
|
11115846 |
2000 |
|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
MGD |
To study the function of the gene mutated in lissencephaly (LIS1), we deleted the first coding exon from the mouse Lis1 gene.
|
11344260 |
2001 |
|
Lissencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The genetic analysis of human brain malformations has identified several biochemical players in this process, including doublecortin (DCX) and LIS1, mutations of which cause a profound migratory disturbance known as lissencephaly ('smooth brain') in humans.
|
11389474 |
2001 |
|
Lissencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Most patients with lissencephaly secondary to LIS1 mutations have a severe malformation consisting of generalized agyria and pachygyria.
|
11502906 |
2001 |
|
Lissencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The most frequent forms of lissencephaly (agyria-pachygyria) are caused by mutations of LIS1.
|
11579436 |
2001 |
|
Lissencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This is supported by models such as the reeler mouse, in which the dysfunctional extracellular matrix molecule leads to a form of lissencephaly in mouse and human, but there is a far less impressive association with seizures than for LIS1 mutations.
|
12040900 |
2002 |
|
Lissencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
On the basis of recent functional data and the creation of a mouse model suggesting a role for 14-3-3 epsilon in cortical development, we suggest that deletion of one or both of these genes in combination with deletion of LIS1 may contribute to the more severe form of lissencephaly seen only in patients with MDS.
|
12621583 |
2003 |
|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
For example, holoprosencephaly is associated with HPE genes, hydrocephalus with L1-CAM and lissencephaly with LIS-1.
|
12820004 |
2003 |
|
Lissencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Somatic mosaicism has previously been hypothesized in a patient with posteriorly predominant SBH and a mutation of the LIS1 gene, which is usually mutated in patients with severe lissencephaly.
|
14581661 |
2003 |
|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
Nudel has previously been shown to bind Lis1, a gene underlying lissencephaly in humans.
|
14962739 |
2004 |
|
Lissencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Most cases of lissencephaly-pachygyria are caused by mutations of LIS1 and XLIS genes.
|
15816977 |
2005 |
|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
Identifying these mechanisms has shed light on typical human neuronal migration disorders such as periventricular heterotopias (disorder of migration initiation linked to filamin), type I lissencephaly (cytoskeletal abnormality linked to Lis1, a microtubule-associated protein), double cortex syndrome (cytoskeletal abnormality linked to doublecortin, a microtubule-associated protein), or lissencephaly plus cerebellar hypoplasia (reelin defect).
|
16538086 |
2006 |
|
Lissencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
In order to test the hypothesis that these features may be related with genes that regulate neuronal migration, we analyzed two genomic regions: the lissencephaly critical region (chromosome 17p) encompassing the LIS1 gene and which is involved in human lissencephaly; and the genes related to the platelet-activating-factor, functionally related to LIS1, in 52 schizophrenic patients, 36 bipolar I patients and 65 normal control subjects.
|
16549273 |
2006 |
|
Lissencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Lissencephaly-pachygyria and subcortical band heterotopia (SBH) are disorders of neuronal migration and represent a malformative spectrum resulting from mutations of either LIS1 or DCX genes.
|
16724181 |
2006 |