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LIM-kinase 1 and the Williams syndro...

Frangiskakis, John Michael.

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LIM-kinase 1 and the Williams syndrome cognitive profile.

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	LIM-kinase 1 and the Williams syndrome cognitive profile./
作者:	Frangiskakis, John Michael.
面頁冊數:	86 p.
附註:	Source: Dissertation Abstracts International, Volume: 59-09, Section: B, page: 4607.
Contained By:	Dissertation Abstracts International59-09B.
標題:	Biology, Genetics. -
電子資源:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=9907219
ISBN:	0599050241

LIM-kinase 1 and the Williams syndrome cognitive profile.
Frangiskakis, John Michael.

LIM-kinase 1 and the Williams syndrome cognitive profile. - 86 p.

Source: Dissertation Abstracts International, Volume: 59-09, Section: B, page: 4607.

Thesis (Ph.D.)--The University of Utah, 1998.

Williams syndrome (WS) is a developmental disorder consisting of multiple distinct features, including cardiovascular defects, mental retardation, a characteristic facial appearance, a gregarious personality, hypercalcemia, and a specific cognitive profile (WSCP). The WSCP is a combination of a relatively preserved ability in some tasks and a deficit in visuospatial tasks.

ISBN: 0599050241Subjects--Topical Terms:

1017730
Biology, Genetics.

LIM-kinase 1 and the Williams syndrome cognitive profile.
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100 1 $a Frangiskakis, John Michael. $3 1947487
245 1 0 $a LIM-kinase 1 and the Williams syndrome cognitive profile.
300 $a 86 p.
500 $a Source: Dissertation Abstracts International, Volume: 59-09, Section: B, page: 4607.
500 $a Adviser: Mark T. Keating.
502 $a Thesis (Ph.D.)--The University of Utah, 1998.
520 $a Williams syndrome (WS) is a developmental disorder consisting of multiple distinct features, including cardiovascular defects, mental retardation, a characteristic facial appearance, a gregarious personality, hypercalcemia, and a specific cognitive profile (WSCP). The WSCP is a combination of a relatively preserved ability in some tasks and a deficit in visuospatial tasks.
520 $a The identification of two families with partial WS phenotypes consisting only of cardiovascular defects, mild WS facial features, and the WSCP suggested the presence of a smaller deletion affecting fewer genes than in classic WS. I determined that LIM-kinase 1 is deleted in both families. Consequently, because mutations of elastin cause cardiovascular defects and mild WS facial features, but no mental deficiency, deletion of LIMK1 likely causes the WSCP.
520 $a LIMK1 is expressed in all tissues, but the highest expression levels are found in the central nervous system. Consequently, I studied LIMK1 expression in rat hippocampal neurons. Expression in developing neurons was widely detectable, yet very close to background levels. Mature neurons presented a dramatic contrast in that expression was far more robust and was found almost exclusively in neurons which also contained $\ gamma $- aminobutyric acid (GABA).
520 $a LIMK1 is thought to phosphorylate cofilin, a cytoskeletal regulatory protein, and relative levels of LIMK1 and cofilin appear to be important for proper cytoskeletal regulation. Consequently, neurons with reduced levels of LIMK1 may not extend neurites normally.
520 $a Disorders related to altered GABA levels include anxiety and seizures. Because two of the individuals with the partial WS phenotype have a seizure disorder and because seizures are a known feature of WS, hemizygosity of LIMK1 may lead to seizure disorders. Anxiety is not detected in any individuals with smaller deletions affecting LIMK1, yet a lack of affected individuals is not exclusive.
520 $a With LIMK1 widely expressed in developing neurons, it seems unlikely that a specific WSCP could result from a defect in the global phase of expression. Phenotypic specificity may be due to abnormal neuronal pathfinding by the GABAergic neurons in the absence of sufficient LIMK1. Aberrant connections involving the GABAergic neurons could then lead to improper GABAergic signaling, thereby resulting in the WSCP.
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650 4 $a Biology, Genetics. $3 1017730
650 4 $a Biology, Neuroscience. $3 1017680
650 4 $a Psychology, Cognitive. $3 1017810
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710 2 0 $a The University of Utah. $3 1017410
773 0 $t Dissertation Abstracts International $g 59-09B.
790 1 0 $a Keating, Mark T., $e advisor
790 $a 0240
791 $a Ph.D.
792 $a 1998
856 4 0 $u http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=9907219