|
Williams Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
For between-group analyses, differences in intraparietal sulcus resting-state functional connectivity were calculated comparing children with Williams syndrome to matched typically developing children and comparing LIMK1 haplotype groups in each of the three general population cohorts separately.
|
31687737 |
2019 |
|
Williams Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Deletion of the LIMK1 gene is associated with Williams syndrome, a unique neurodevelopmental disorder characterized by severe defects in visuospatial cognition and long-term memory (LTM).
|
25645926 |
2015 |
|
Williams Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the phenotypic and molecular characterization of a girl with a de novo 81.8 kb deletion in the WBS critical region, which involves the ELN and LIMK1 genes only.
|
24246242 |
2014 |
|
Williams Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Williams syndrome (WS), a rare disorder caused by a hemizygous deletion on chromosome 7q11.23, including genes important for neuronal migration and maturation (LIMK1 and CLIP2), is typified by a remarkable hypersocial but anxious personality and offers a unique opportunity to investigate this open issue.
|
22411788 |
2012 |
|
Williams Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our findings indicate that spatial deficits associated with WS also affect large-scale spatial processing and suggest that hemizygous deletion of LIMK1 is not sufficient to account for any of the spatial deficits associated with WS.
|
19662944 |
2009 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Standard cytogenetic analysis using the ELN cosmid 82C and the ELN/ LIMK1 cosmid 34B FISH probes suggested a diagnosis of Williams syndrome.
|
19012340 |
2008 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The hemideletion of approximately 25 genes on chromosome 7q11.23 that causes Williams syndrome (WS) includes genes that regulate cytoskeletal dynamics in neurons, especially LIMK1 and CYLN2, and therefore offers the opportunity to investigate the role of these genes in the formation of white matter tracts.
|
17827280 |
2007 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
To determine the role of LIMK1 in the highly penetrant visuospatial deficits associated with classic WS, it is essential to investigate the discrepancies between the two studies.
|
16216290 |
2006 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
These data demonstrate abnormalities in HF in WS in agreement with murine models, implicate LIMK1 and CYLN2 in human hippocampal function, and suggest that hippocampal dysfunction may contribute to neurocognitive abnormalities in WS.
|
15951840 |
2005 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
In this review, we discuss the properties of LIMK and CLIP family proteins, their function in the regulation of the actin and microtubule cytoskeletal systems, respectively, and the relationship with neurodevelopmental aspects of Williams Syndrome.
|
14745832 |
2004 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
MGD |
In addition, abnormal expression of LIMK-1 is associated with Williams syndrome, a mental disorder with profound deficits in visuospatial cognition.
|
12123613 |
2002 |
|
Williams Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23.
|
11003705 |
2000 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
A cognitive phenotypic map of WMS is presented, which combines previous data with five further WMS subjects and three atypical WMS subjects with deletions; two larger (deleted for D7S489L) and one smaller, deleted for genes telomeric to FZD9, through LIMK1, but not WSCR1 or telomeric.
|
10953236 |
2000 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Our results suggest that neither LIMK1 hemizygosity (contrary to a previous report) nor STX1A hemizygosity is likely to contribute to any part of the WS phenotype, and they emphasize the importance of such patients for dissecting subtle but highly penetrant phenotypes.
|
9915950 |
1999 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Heteroduplex analysis for LIMK1, a candidate gene previously implicated in the WS phenotype, did not show any mutations in our WS patients not deleted for ELN.
|
9637430 |
1998 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Depressive disorder
|
0.120 |
Biomarker
|
disease |
BEFREE |
Baicalin regulates depression behavior in mice exposed to chronic mild stress via the Rac/LIMK/cofilin pathway.
|
31176122 |
2019 |
|
Depressive disorder
|
0.120 |
AlteredExpression
|
disease |
BEFREE |
MiR-134 modulates chronic stress-induced structural plasticity and depression-like behaviors via downregulation of Limk1/cofilin signaling in rats.
|
29329879 |
2018 |
|
Depressive disorder
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
|
Congestive heart failure
|
0.110 |
Biomarker
|
disease |
BEFREE |
Our study provides evidence that upregulated miR-93 and downregulated LIMK1 improve ventricular remodeling and reduce cardiac dysfunction in CHF rats by inhibiting RhoA/ROCK signaling pathway activation.
|
31541994 |
2019 |
|
Glaucoma
|
0.110 |
Biomarker
|
disease |
BEFREE |
Alteration of microtubule dynamics by LIMK dysregulation is in fact related to tumor progression and metastasis, viral infection, and ocular diseases, such as glaucoma.
|
29908439 |
2018 |
|
Autistic Disorder
|
0.110 |
Biomarker
|
disease |
BEFREE |
These findings suggest that increased BMPR2 signal transduction is linked to FXS and that the BMPR2-LIMK1 pathway is a putative therapeutic target in patients with FXS and possibly other forms of autism.
|
27273096 |
2016 |
|
Autistic Disorder
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Glaucoma
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Congestive heart failure
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|