LIM–kinase deleted in Williams syndrome

@article{Tassabehji1996LIMkinaseDI,
  title={LIM–kinase deleted in Williams syndrome},
  author={May Tassabehji and Kay A. Metcalfe and William D Fergusson and Martin Carette and Jonathan K. Dore and Dian Donnai and Andrew P. Read and Christoph Pr{\"o}schel and Nicholas J. Gutowski and X Mao and Denise Sheer},
  journal={Nature Genetics},
  year={1996},
  volume={13},
  pages={272-273}
}
TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog
TLDR
A novel gene, TBL2, is identified in the common WBS deletion and has been mapped to mouse chromosome 5 in a region of conserved synteny with human 7q11.23.
Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23
TLDR
Haploinsufficiency for WBSCR9 gene products may contribute to the complex phenotype of WBS by interacting with tissue-specific regulatory factors during development.
Maternal and indirect genetic effects on behavioural and developmental traits in mammalian disease models
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The development of visuo-spatial processing in children with autism, Down syndrome and Williams syndrome.
TLDR
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This study tested the ability of English infants and toddlers with Williams syndrome to segment, that is, to extract from fluent speech, bisyllabic nouns that had either a strong–-weak stress pattern
Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23
TLDR
The identification and characterization of a novel gene namedGTF2IRD1, for GTF2I-repeat domain 1, within the WBS deletion region is described, which may contribute to the complex WBS phenotype.
Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.
TLDR
Genetic and psychometric testing of patients who have small deletions within the Williams syndrome critical region suggest that neither LIMK1 hemizygosity 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.
Advanced paternal age as a risk factor for neurodevelopmental disorders: a translational study
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Ass associations between APA and social behaviors across species might be driven by changes in the expression of microRNAs and/or epigenetic changes regulating neuronal plasticity, leading to brain morphological changes and fronto-hippocampal connectivity, a network which has been implicated in social interaction.
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References

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Classification of LIM proteins.
Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.
TLDR
The results demonstrate that FISH analysis of the elastin locus provides a more rapid and informative test to confirm a clinical diagnosis of WS, and the presence of two copies of theElast in a patient does not rule out WS as a diagnosis.
LIMK-1 and LIMK-2, two members of a LIM motif-containing protein kinase family.
TLDR
Rat cDNA clones encoding LIMK-1 and -2 are closely related but distinct members of a novel LIM-containing protein kinase subfamily and are likely to have specific functions in previously uncharacterized signaling pathways.
Limk1 is predominantly expressed in neural tissues and phosphorylates serine, threonine and tyrosine residues in vitro.
TLDR
It is demonstrated that GST-Limk1-fusion protein can autophosphorylate on serine, tyrosine and threonine residues in vitro and that mutation of residue D460 within the IHRDL motif abolishes kinase activity.
Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.
TLDR
Results support the usefulness of FISH for the detection of elastin deletions as an initial diagnostic assay for Williams syndrome.
Identification of a human cDNA encoding a novel protein kinase with two repeats of the LIM/double zinc finger motif.
TLDR
Although the protein kinase domain of LIMK has highly conserved sequence elements of protein kinases, phylogenetic analysis revealed that LIMK cannot be classified into any subfamily of known protein kinased, and is suggested to be involved in protein-protein interactions by binding to another LIM motif.
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
TLDR
Hemizygosity at the elastin locus is identified using genetic analyses in four familial and five sporadic cases of Williams syndrome, indicating that deletions involving oneElastin allele cause WS and implicate elast in hemizygosa in the pathogenesis of the disease.
Supravalvular aortic stenosis cosegregates with a familial 6; 7 translocation which disrupts the elastin gene.
TLDR
This work reports on a family in which SVAS is cosegregating with a balanced reciprocal translocation, t(6:7) (p21.1;q11.23), providing further evidence that SVas is the result of a mutation of elastin at 7q 11.23 region.
Williams syndrome: autosomal dominant inheritance.
TLDR
In all 3 families, the parent with Williams syndrome was diagnosed after the identification of the syndrome in the affected child, and none of these patients has supravalvular aortic stenosis or chromosome abnormalities.
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