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A genetic approach to understanding ...

Dunston, Jennifer Ann.

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A genetic approach to understanding the phenotypic variability of nail patella syndrome.

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	A genetic approach to understanding the phenotypic variability of nail patella syndrome./
作者:	Dunston, Jennifer Ann.
面頁冊數:	186 p.
附註:	Source: Dissertation Abstracts International, Volume: 64-10, Section: B, page: 4744.
Contained By:	Dissertation Abstracts International64-10B.
標題:	Biology, Genetics. -
電子資源:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3107497

A genetic approach to understanding the phenotypic variability of nail patella syndrome.
Dunston, Jennifer Ann.

A genetic approach to understanding the phenotypic variability of nail patella syndrome. - 186 p.

Source: Dissertation Abstracts International, Volume: 64-10, Section: B, page: 4744.

Thesis (Ph.D.)--The Johns Hopkins University, 2004.

Nail Patella Syndrome (NPS) results from heterozygous loss-of-function mutations in the LXM1B gene, a LIM-homeodomain transcription factor. NPS is characterized by nail dysplasia, elbow dysplasia, absent/hypoplastic patellae and exostoses of the ilia. Nephropathy and glaucoma are part of the syndrome. Though fully penetrant, the phenotype is variable both within and between families.Subjects--Topical Terms:

1017730
Biology, Genetics.

A genetic approach to understanding the phenotypic variability of nail patella syndrome.
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100 1 $a Dunston, Jennifer Ann. $3 1952419
245 1 2 $a A genetic approach to understanding the phenotypic variability of nail patella syndrome.
300 $a 186 p.
500 $a Source: Dissertation Abstracts International, Volume: 64-10, Section: B, page: 4744.
500 $a Adviser: Iain McIntosh.
502 $a Thesis (Ph.D.)--The Johns Hopkins University, 2004.
520 $a Nail Patella Syndrome (NPS) results from heterozygous loss-of-function mutations in the LXM1B gene, a LIM-homeodomain transcription factor. NPS is characterized by nail dysplasia, elbow dysplasia, absent/hypoplastic patellae and exostoses of the ilia. Nephropathy and glaucoma are part of the syndrome. Though fully penetrant, the phenotype is variable both within and between families.
520 $a Lmx1b gene expression in the mouse was studied. Lmx1b was expressed in the central nervous system within the mesencephalic dopaminergic system and dorsal spinal cord. This expression pattern provides a framework for future analysis of the contribution of LMX1B to the potential behavioral and neurological phenotypes in NPS.
520 $a The genomic sequence of a number of organisms including C. elegans , Drosophila melanogaster, Takifugu rubripes , mouse, rat and human is now available. In silico studies allowed the evolutionary history of the Lmx1 genes to be reconstructed. The presence of two functional mammalian Lmx1 paralogs, LMX1A and LMX1B, are the result of an ancient duplication of an ancestral Lmx1 gene prior to the divergence of vertebrates. The selective pressure on the gene resulted in conservation of both coding sequence and non-coding sequence. It is hypothesized that this non-coding sequence conservation corresponds to regulatory elements controlling gene expression.
520 $a Sequence features of the LMX1B gene with functional importance can be defined by the consequence of a human phenotype when mutated. Though mutations were not identified in the promoter, polyA cleavage signal sequence, or regions of non-coding sequence conservation, they remain valid regions to search for mutations.
520 $a The hypothesis that the normal allele of the LMX1B gene modifies the severity of the nail dysplasia was tested. Normal alleles were defined by the construction of single nucleotide polymorphism (SNP) haplotypes across the gene. Two haplotypes were demonstrated to have a significant effect on the severity of the nail dysplasia. One was protective (beta1 = -0.93, p = 0.041) and another increased risk for severe nail dysplasia (beta1 = 0.93, p = 0.041), supporting the hypothesis that the normal LMX1B allele is a modifier of this aspect of the NPS phenotype. Individual SNPs are not predictive of the nail phenotype and are either required in combination or are in linkage disequilibrium with functional variants.
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790 1 0 $a McIntosh, Iain, $e advisor
790 $a 0098
791 $a Ph.D.
792 $a 2004
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