|
Lissencephaly
|
0.300 |
Biomarker
|
disease |
BEFREE |
Much of our knowledge about DCX-associated lissencephaly comes from post-mortem analyses of patient's brains, mainly since animal models with DCX mutations do not mimic the disease.
|
28924182 |
2018 |
|
Lissencephaly
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The effect of several mutations leading to lissencephaly and double-cortex syndrome can be traced to the domain swap and the proposed self-association of doublecortin.
|
29717716 |
2018 |
|
Lissencephaly
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
DCX mutations usually cause anterior dominant lissencephaly in males and subcortical band heterotopia (SBH) in females.
|
26743950 |
2016 |
|
Lissencephaly
|
0.300 |
Biomarker
|
disease |
BEFREE |
Mutations in the microtubule-associated protein doublecortin (DCX) cause type I (X-linked or XLIS) lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in females, with defects in neuron migration during development affecting cortical lamination.
|
25817838 |
2015 |
|
Lissencephaly
|
0.300 |
Biomarker
|
disease |
BEFREE |
Lissencephaly and subcortical band heterotopia are major malformations of cortical development due to abnormal neuronal migration and several genes have been identified including ARX, DCX, LIS1, RELN, TUBA1A, and VLDLR.
|
23583063 |
2013 |
|
Lissencephaly
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.
|
23365099 |
2013 |
|
Lissencephaly
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
An ovel mutation (c.83_84delAT, p.Tyr28Phefs*31) was identified in LIS1 in 1 of the boys with lissencephaly and another novel mutation (c.200delG, p.Ile68Leufs*87) was found in DCX in the girl with subcortical band heterotopia.
|
22408144 |
2012 |
|
Lissencephaly
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Hemizygous DCX mutations in males result in lissencephaly.
|
22833188 |
2012 |
|
Lissencephaly
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We previously showed that mutations in LIS1 and DCX account for approximately 85% of patients with the classic form of lissencephaly (LIS).
|
20466733 |
2010 |
|
Lissencephaly
|
0.300 |
Biomarker
|
disease |
BEFREE |
The two most common genes mutated in patients with lissencephaly are LIS1 and DCX.
|
20688183 |
2010 |
|
Lissencephaly
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
|
19050731 |
2009 |
|
Lissencephaly
|
0.300 |
Biomarker
|
disease |
BEFREE |
Full chromosome studies in the parents and the proband and mutation analysis on peripheral blood lymphocytes (and on skin cultured fibroblasts from affected and unaffected skin areas in the child) in the genes for subcortical band heterotopia (DCX (Xq22.3-q23)], lissencephaly (PAFAH1B1, alias LIS1, at 17p13.3), and oculocerebrorenal syndrome of Lowe (OCRL at Xq23-q24)] were unrevealing.
|
19380077 |
2009 |
|
Lissencephaly
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The doublecortin (DCX) gene, mutated in X-linked human lissencephaly, has 2 close paralogs, doublecortin-like kinase 1 and 2 (Dclk1 and 2).
|
18075264 |
2008 |
|
Lissencephaly
|
0.300 |
Biomarker
|
disease |
BEFREE |
The most prominent radiological phenotype was an anteriorly predominant pachygyria or agyria (54.5%) although DCX-associated lissencephaly encompasses a complete range of LIS grades.
|
18685874 |
2008 |
|
Lissencephaly
|
0.300 |
Biomarker
|
disease |
MGD |
Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice.
|
16571605 |
2006 |
|
Lissencephaly
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients.
|
16724181 |
2006 |
|
Lissencephaly
|
0.300 |
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
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
DCX mutations usually cause anteriorly predominant lissencephaly in male patients and subcortical band heterotopia in female patients.
|
15921228 |
2005 |
|
Lissencephaly
|
0.300 |
Biomarker
|
disease |
BEFREE |
XLIS usually causes anteriorly predominant lissencephaly in male patients and subcortical band heterotopia (SBH) in female patients.
|
15816977 |
2005 |
|
Lissencephaly
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mutation(s) in the LIS1 gene or the X-linked gene doublecortin (DCX) results in a spectrum of disorders including lissencephaly, or "smooth brain", and subcortical band heterotopia, or "doublecortex".
|
15719169 |
2005 |
|
Lissencephaly
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Males carrying DCX mutations usually demonstrate lissencephaly and are clinically much more severely affected.
|
12034802 |
2002 |
|
Lissencephaly
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Anteriorly predominant lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in heterozygous females are caused by mutations of the XLIS (or DCX) gene.
|
12185771 |
2002 |
|
Lissencephaly
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Anteriorly predominant lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in heterozygous females are caused by mutations of the XLIS(or DCX) gene.
|
11749114 |
2001 |
|
Lissencephaly
|
0.300 |
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
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We examined mutations of the doublecortin (DCX) gene, which is responsible for X-linked subcortical laminar heterotopia (SCLH) and lissencephaly, in eight unrelated Japanese patients, four with SCLH and four with isolated lissencephaly sequence (ILS).
|
10807542 |
2000 |