Literature DB >> 9099524

The retina: genetic studies of several retinopathies located on the short arm of chromosome 17.

A R Joshi1, L Mullen, K W Small.   

Abstract

The short arm of chromosome 17 has emerged as a hot spot where several phenotypically distinct retinal disorders have been mapped in the past year. An autosomal dominant retinitis pigmentosa, Leber's congenital amaurosis, autosomal dominant cone degeneration, central areolar choroidal dystrophy and Sjogren-Larsson syndrome were all recently mapped to chromosome 17p. These disorders, their genetic linkage, possible candidate genes and the possibility that several of these disorders may share candidate genes are discussed.

Entities:  

Mesh:

Year:  1997        PMID: 9099524

Source DB:  PubMed          Journal:  Curr Opin Neurol        ISSN: 1350-7540            Impact factor:   5.710


  6 in total

Review 1.  Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease.

Authors:  A Iannaccone
Journal:  Doc Ophthalmol       Date:  2001-05       Impact factor: 2.379

2.  Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p.

Authors:  A E Hughes; A J Lotery; G Silvestri
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

3.  Disruption of a retinal guanylyl cyclase gene leads to cone-specific dystrophy and paradoxical rod behavior.

Authors:  R B Yang; S W Robinson; W H Xiong; K W Yau; D G Birch; D L Garbers
Journal:  J Neurosci       Date:  1999-07-15       Impact factor: 6.167

Review 4.  Molecular aspects of retinal degenerative diseases.

Authors:  S Lev
Journal:  Cell Mol Neurobiol       Date:  2001-12       Impact factor: 5.046

5.  Identification of a novel family of targets of PYK2 related to Drosophila retinal degeneration B (rdgB) protein.

Authors:  S Lev; J Hernandez; R Martinez; A Chen; G Plowman; J Schlessinger
Journal:  Mol Cell Biol       Date:  1999-03       Impact factor: 4.272

6.  Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q.

Authors:  M B Reichel; R E Kelsell; J Fan; C Y Gregory; K Evans; A T Moore; D M Hunt; F W Fitzke; A C Bird
Journal:  Br J Ophthalmol       Date:  1998-10       Impact factor: 4.638

  6 in total

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