Literature DB >> 8088850

Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.

R Vaithinathan1, E L Berson, T P Dryja.   

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Year:  1994        PMID： 8088850     DOI： 10.1006/geno.1994.1301

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


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  22 in total

1.  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

2.  Hydrogen/Deuterium Exchange Mass Spectrometry of Human Green Opsin Reveals a Conserved Pro-Pro Motif in Extracellular Loop 2 of Monostable Visual G Protein-Coupled Receptors.

Authors:  Lukas Hofmann; Nathan S Alexander; Wenyu Sun; Jianye Zhang; Tivadar Orban; Krzysztof Palczewski
Journal:  Biochemistry       Date:  2017-04-21       Impact factor: 3.162

3.  Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Authors:  Lori S Sullivan; Sara J Bowne; David G Birch; Dianna Hughbanks-Wheaton; John R Heckenlively; Richard Alan Lewis; Charles A Garcia; Richard S Ruiz; Susan H Blanton; Hope Northrup; Anisa I Gire; Robyn Seaman; Hatice Duzkale; Catherine J Spellicy; Jingya Zhu; Suma P Shankar; Stephen P Daiger
Journal:  Invest Ophthalmol Vis Sci       Date:  2006-07       Impact factor: 4.799

4.  Mechanism of signal propagation upon retinal isomerization: insights from molecular dynamics simulations of rhodopsin restrained by normal modes.

Authors:  Basak Isin; Klaus Schulten; Emad Tajkhorshid; Ivet Bahar
Journal:  Biophys J       Date:  2008-04-04       Impact factor: 4.033

Review 5.  Retinitis pigmentosa: unfolding its mystery.

Authors:  E L Berson
Journal:  Proc Natl Acad Sci U S A       Date:  1996-05-14       Impact factor: 11.205

6.  Identification of motions in membrane proteins by elastic network models and their experimental validation.

Authors:  Basak Isin; Kalyan C Tirupula; Zoltán N Oltvai; Judith Klein-Seetharaman; Ivet Bahar
Journal:  Methods Mol Biol       Date:  2012

7.  Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.

Authors:  T P Dryja; J T Finn; Y W Peng; T L McGee; E L Berson; K W Yau
Journal:  Proc Natl Acad Sci U S A       Date:  1995-10-24       Impact factor: 11.205

Review 8.  Constitutively active rhodopsin and retinal disease.

Authors:  Paul Shin-Hyun Park
Journal:  Adv Pharmacol       Date:  2014

9.  Structure and function in rhodopsin: correct folding and misfolding in two point mutants in the intradiscal domain of rhodopsin identified in retinitis pigmentosa.

Authors:  X Liu; P Garriga; H G Khorana
Journal:  Proc Natl Acad Sci U S A       Date:  1996-05-14       Impact factor: 11.205

Review 10.  Finding and interpreting genetic variations that are important to ophthalmologists.

Authors:  Edwin M Stone
Journal:  Trans Am Ophthalmol Soc       Date:  2003
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