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Molecular genetics of Williams syndrome.

Toland, Amanda Ewart.

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Molecular genetics of Williams syndrome.

Record Type:	Electronic resources : Monograph/item
Title/Author:	Molecular genetics of Williams syndrome./
Author:	Toland, Amanda Ewart.
Description:	207 p.
Notes:	Source: Dissertation Abstracts International, Volume: 57-05, Section: B, page: 3018.
Contained By:	Dissertation Abstracts International57-05B.
Subject:	Biology, Genetics. -
Online resource:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=9630590

Molecular genetics of Williams syndrome.
Toland, Amanda Ewart.

Molecular genetics of Williams syndrome. - 207 p.

Source: Dissertation Abstracts International, Volume: 57-05, Section: B, page: 3018.

Thesis (Ph.D.)--The University of Utah, 1996.

Williams syndrome (WS) is a developmental disorder characterized by cardiovascular disease, connective tissue abnormalities, unique personality, specific cognitive profile, mental retardation, and infantile hypercalcemia. Over the past five years, our laboratory discovered that submicroscopic deletions of chromosome 7q11.23 cause WS and demonstrated that hemizygosity of two genes, elastin (ELN) and LIM-kinase (LIMK), is important for the WS phenotype.Subjects--Topical Terms:

1017730
Biology, Genetics.

Molecular genetics of Williams syndrome.
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035 $a (UnM)AAI9630590
035 $a AAI9630590
040 $a UnM $c UnM
100 1 $a Toland, Amanda Ewart. $3 1947484
245 1 0 $a Molecular genetics of Williams syndrome.
300 $a 207 p.
500 $a Source: Dissertation Abstracts International, Volume: 57-05, Section: B, page: 3018.
502 $a Thesis (Ph.D.)--The University of Utah, 1996.
520 $a Williams syndrome (WS) is a developmental disorder characterized by cardiovascular disease, connective tissue abnormalities, unique personality, specific cognitive profile, mental retardation, and infantile hypercalcemia. Over the past five years, our laboratory discovered that submicroscopic deletions of chromosome 7q11.23 cause WS and demonstrated that hemizygosity of two genes, elastin (ELN) and LIM-kinase (LIMK), is important for the WS phenotype.
520 $a My contribution to these discoveries includes the following: mapping the locus for autosomal dominant supravalvular aortic stenosis (SVAS) to chromosome 7q11.23; identifying linkage between SVAS and ELN in two kindreds; demonstrating by Southern analyses that an SVAS-associated translocation disrupts ELN in a third kindred; identifying a $\ sim $9 0 kb SVAS-associated deletion in the 3 $\ sp\prime $ end of ELN in another kindred; demonstrating by dosage and genotype analyses that WS is caused by a submicroscopic deletion of chromosome 7q11.23 including one ELN allele; completing the characterization of the genomic structure of ELN for additional mutational analysis; and contributing to the finding that deletions of a second gene, LIMK are associated with the specific cognitive profile of WS. These results provide the first molecular insight into the development of human cognitive function and the pathophysiology of ELN in vascular disease. Furthermore, these studies will facilitate future work deciphering the molecular basis of WS.
590 $a School code: 0240.
650 4 $a Biology, Genetics. $3 1017730
650 4 $a Biology, Molecular. $3 1017719
650 4 $a Health Sciences, Pathology. $3 1017854
690 $a 0369
690 $a 0307
690 $a 0571
710 2 0 $a The University of Utah. $3 1017410
773 0 $t Dissertation Abstracts International $g 57-05B.
790 $a 0240
791 $a Ph.D.
792 $a 1996
856 4 0 $u http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=9630590