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1.
Surv Ophthalmol ; 52(5): 503-22, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17719372

RESUMO

Triamcinolone acetonide has been effectively used in ocular therapeutics for over 50 years. Its use has increased dramatically in recent years for periocular and intraocular treatment of retinal vasculature disease and uveitis. This comprehensive review discusses the pharmacokinetics of triamcinolone acetonide and summarizes its uses in a number of diseases, both intraocular and extraocular. It discusses side effects and their management. Finally, it discusses the controversy over its use.


Assuntos
Glucocorticoides/uso terapêutico , Triancinolona Acetonida/uso terapêutico , Glucocorticoides/efeitos adversos , Glucocorticoides/farmacocinética , Humanos , Ceratoconjuntivite/tratamento farmacológico , Edema Macular/tratamento farmacológico , Doenças Retinianas/tratamento farmacológico , Triancinolona Acetonida/efeitos adversos , Triancinolona Acetonida/farmacocinética , Uveíte/tratamento farmacológico
2.
Gene ; 227(1): 111-6, 1999 Feb 04.
Artigo em Inglês | MEDLINE | ID: mdl-9931462

RESUMO

A 2Mb contig was constructed of yeast artificial chromosomes (YACs) and P1 artificial chromosomes (PACs), extending from DXS6849 to a new marker EC7034R, 1Mb distal to UBE1, within the p11.3 region of the human X chromosome. This contig, which has on average four-fold cloned coverage, was assembled using 37 markers, including 13 new sequence tagged sites (STSs) developed from YAC and PAC end-fragments, for an average inter-marker distance of 55kb. The inferred marker order predicted from SEGMAP analysis, STS content and cell hybrid data is Xpter-EC7034R-EC8058R-FB20E11-DXS7804-D XS8308-(DXS1264, DXS1055)-DXS1003-UBE1-(UHX), PCTK1)-DXS1364-DXS1266-DXS337-SYN1-DXS6 849-cen. One (TC)n dinucleotide sequence from an end-clone was identified and found to be polymorphic (48% heterozygosity). The contig is merged with published physical maps both in the distal and in the centromeric direction of Xp, and provides reagents to aid in the DNA sequencing and the finding of genes in this region of the human genome.


Assuntos
Mapeamento de Sequências Contíguas/métodos , Cromossomo X , Cromossomos Artificiais de Levedura , Repetições de Dinucleotídeos , Homologia de Genes , Marcadores Genéticos , Humanos , Sitios de Sequências Rotuladas
3.
Gene ; 208(2): 147-56, 1998 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-9524253

RESUMO

A YAC/STS map has been assembled spanning 22 Mb across Xq12-q21.31, between markers DXS1125 and DXS95. In addition to the landmark loci for the X-inactivation center XIST and the ATRX, ATP7A, phosphoglycerate kinase, POU3F4, and choroideremia genes, the candidate disease gene regions for torsion dystonia 3 and two X-linked mental retardation syndromes are included. Also, the human voltage-dependent anion channel gene (HVDAC1) has been placed near DXS986. The current map incorporates 211 YACs from five different libraries, formatted with 185 STSs that comprise 26 genetic linkage markers, 60 newly-developed YAC-end STSs, and eight ESTs. The multiple clone coverage and average resolution of one STS per 120 kb provide resources for disease gene searches and are facilitating complete sequencing of the region.


Assuntos
Mapeamento Cromossômico/métodos , Doenças Genéticas Inatas/genética , Cromossomo X , Sequência de Bases , Centrômero , Cromossomos Artificiais de Levedura , Primers do DNA , Biblioteca Gênica , Ligação Genética , Marcadores Genéticos , Humanos , Reação em Cadeia da Polimerase , Telômero
4.
Gene ; 215(2): 259-67, 1998 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-9714824

RESUMO

The 15Mb region between DXS997 and DXS8054 in Xp21.3-p11.3 has been mapped at seven-fold average coverage in yeast artificial chromosomes (YACs) and 100 kb inter-sequence tagged site (STS) distance. YACs from six different collections show self-consistent maps. The STSs include 18 (CA) repeat and one tetranucleotide repeat marker that detect polymorphism, as well as eight well-studied genes, a second site for MXS1 sequences, and three expressed sequence tags (ESTs). One of the ESTs maps to intron 7 of Duchenne muscular dystrophy, and seems to be a processed intronic sequence with a poly(A) tail.


Assuntos
Distrofias Musculares/genética , Cromossomo X , Sequência de Bases , Mapeamento Cromossômico , Cromossomos Artificiais de Levedura , Primers do DNA , Repetições de Dinucleotídeos , Marcadores Genéticos , Variação Genética , Genoma Humano , Humanos , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , Sitios de Sequências Rotuladas , Transcrição Gênica
5.
Genomics ; 58(2): 188-201, 1999 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-10366451

RESUMO

A map has been assembled that extends from the XY homology region in Xq21.3 to proximal Xq24, approximately 20 Mb, formatted with 200 STSs that include 25 dinucleotide repeat polymorphic markers and more than 80 expressed sequences including 30 genes. New genes HTRP5, CAPN6, STPK, 14-3-3PKR, and CALM1 and previously known genes including BTK, DDP, GLA, PLP, COL4A5, COL4A6, PAK3, and DCX are localized; candidate loci for other disorders for which genes have not yet been identified, including DFN-2, POF, megalocornea, and syndromic and nonsyndromic mental retardation, are also mapped in the region. The telomeric end of the contig overlaps a yeast artificial chromosome (YAC) contig from Xq24-q26 and with other previously published contigs provides complete sequence-tagged site (STS)/YAC-based coverage of the long arm of the X chromosome. The order of published landmark loci in genetic and radiation hybrid maps is in general agreement. Combined with high-density STS landmarks, the multiple YAC clone coverage and integrated genetic, radiation hybrid, and transcript map provide resources to further disease gene searches and sequencing.


Assuntos
Mapeamento Cromossômico/métodos , Cromossomos Artificiais de Levedura , Mapeamento Físico do Cromossomo , Sitios de Sequências Rotuladas , Cromossomo X , Primers do DNA , Bases de Dados Factuais , Etiquetas de Sequências Expressas , Marcadores Genéticos , Humanos
6.
Genome Res ; 7(3): 210-22, 1997 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-9074925

RESUMO

A YAC/STS map of the X chromosome has reached an inter-STS resolution of 75 kb. The map density is sufficient to provide YACs or other large-insert clones that are cross-validated as sequencing substrates across the chromosome. Marker density also permits estimates of regional gene content and a detailed comparison of genetic and physical map distances. Five regions are detected with relatively high G + C, correlated with gene richness; and a 17-Mb region with very low recombination is revealed between the Xq13.3 [XIST] and Xq21.3 XY homology loci.


Assuntos
Mapeamento Cromossômico , Cromossomo X/genética , Composição de Bases/genética , Mapeamento Cromossômico/métodos , Cromossomos Artificiais de Levedura/genética , Nucleotídeos de Citosina/genética , DNA Complementar/genética , Expressão Gênica/genética , Biblioteca Genômica , Nucleotídeos de Guanina/genética , Humanos , Sitios de Sequências Rotuladas
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