Literature DB >> 7633434

Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347.

J P Macke1, J C Hennessey, J Nathans.   

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Year:  1995        PMID： 7633434     DOI： 10.1093/hmg/4.4.775

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


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  11 in total

1.  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

2.  Molecular Architecture of G Protein-Coupled Receptors.

Authors:  A Michiel van Rhee; Kenneth A Jacobson
Journal:  Drug Dev Res       Date:  1996-01-01       Impact factor: 4.360

3.  Rhodopsin mutations in Chinese patients with retinitis pigmentosa.

Authors:  W M Chan; K Y Yeung; C P Pang; L Baum; T C Lau; A K Kwok; D S Lam
Journal:  Br J Ophthalmol       Date:  2001-09       Impact factor: 4.638

4.  Regulation of sorting and post-Golgi trafficking of rhodopsin by its C-terminal sequence QVS(A)PA.

Authors:  D Deretic; S Schmerl; P A Hargrave; A Arendt; J H McDowell
Journal:  Proc Natl Acad Sci U S A       Date:  1998-09-01       Impact factor: 11.205

5.  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 6.  Finding and interpreting genetic variations that are important to ophthalmologists.

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

7.  The C terminus of peripherin/rds participates in rod outer segment targeting and alignment of disk incisures.

Authors:  Beatrice M Tam; Orson L Moritz; David S Papermaster
Journal:  Mol Biol Cell       Date:  2004-02-06       Impact factor: 4.138

8.  An outer segment localization signal at the C terminus of the photoreceptor-specific retinol dehydrogenase.

Authors:  Wenqin Luo; Nicholas Marsh-Armstrong; Amir Rattner; Jeremy Nathans
Journal:  J Neurosci       Date:  2004-03-17       Impact factor: 6.167

9.  Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients.

Authors:  M Dikshit; R Agarwal
Journal:  J Genet       Date:  2001-08       Impact factor: 1.508

10.  Proteome-wide analysis of human disease mutations in short linear motifs: neglected players in cancer?

Authors:  Bora Uyar; Robert J Weatheritt; Holger Dinkel; Norman E Davey; Toby J Gibson
Journal:  Mol Biosyst       Date:  2014-10
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