Literature DB >> 8541873

Molecular genetics of retinitis pigmentosa.

T P Dryja1, T Li.   

Abstract

Hereditary degenerations and dysfunctions of the retina are an extremely heterogeneous group of diseases. This summary deals with recent advances in the molecular genetics of a subset of those disorders, namely, those encompassed under the diagnosis 'retinitis pigmentosa'. Over 20 loci where mutations cause retinitis pigmentosa have been mapped; the review focuses on the seven retinitis pigmentosa loci that have been identified.

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Year:  1995        PMID： 8541873     DOI： 10.1093/hmg/4.suppl_1.1739

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


  62 in total

1.  Retinitis pigmentosa: mutations in a receptor tyrosine kinase gene, MERTK.

Authors:  A Kumar
Journal:  J Biosci       Date:  2001-03       Impact factor: 1.826

2.  A mutation of early photoreceptor development, mikre oko, reveals cell-cell interactions involved in the survival and differentiation of zebrafish photoreceptors.

Authors:  G Doerre; J Malicki
Journal:  J Neurosci       Date:  2001-09-01       Impact factor: 6.167

3.  RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.

Authors:  S Kohl; M Christ-Adler; E Apfelstedt-Sylla; U Kellner; A Eckstein; E Zrenner; B Wissinger
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

4.  bcl-2 overexpression reduces apoptotic photoreceptor cell death in three different retinal degenerations.

Authors:  J Chen; J G Flannery; M M LaVail; R H Steinberg; J Xu; M I Simon
Journal:  Proc Natl Acad Sci U S A       Date:  1996-07-09       Impact factor: 11.205

5.  Identification and characterization of a conserved family of protein serine/threonine phosphatases homologous to Drosophila retinal degeneration C.

Authors:  P M Sherman; H Sun; J P Macke; J Williams; P M Smallwood; J Nathans
Journal:  Proc Natl Acad Sci U S A       Date:  1997-10-14       Impact factor: 11.205

6.  Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.

Authors:  T L McGee; M Devoto; J Ott; E L Berson; T P Dryja
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

7.  Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis.

Authors:  Xinrong Lu; Mallikarjuna Guruju; John Oswald; Paulo A Ferreira
Journal:  Hum Mol Genet       Date:  2005-03-30       Impact factor: 6.150

8.  Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.

Authors:  A Schuster; N Weisschuh; H Jägle; D Besch; A R Janecke; H Zierler; S Tippmann; E Zrenner; B Wissinger
Journal:  Br J Ophthalmol       Date:  2005-10       Impact factor: 4.638

Review 9.  Controlling protein compartmentalization to overcome disease.

Authors:  James R Davis; Mudit Kakar; Carol S Lim
Journal:  Pharm Res       Date:  2006-09-13       Impact factor: 4.200

10.  The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase.

Authors:  M Linari; M Ueffing; F Manson; A Wright; T Meitinger; J Becker
Journal:  Proc Natl Acad Sci U S A       Date:  1999-02-16       Impact factor: 11.205
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