Literature DB >> 8401530

A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea.

B E Nichols, A V Drack, K Vandenburgh, A E Kimura, V C Sheffield, E M Stone.   

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Year:  1993        PMID： 8401530     DOI： 10.1093/hmg/2.8.1347-a

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


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  8 in total

Review 1.  Genetic factors of age-related macular degeneration.

Authors:  Jingsheng Tuo; Christine M Bojanowski; Chi-Chao Chan
Journal:  Prog Retin Eye Res       Date:  2004-03       Impact factor: 21.198

Review 2.  The role of inflammation in the pathogenesis of age-related macular degeneration.

Authors:  Larry A Donoso; David Kim; Arcilee Frost; Alston Callahan; Gregory Hageman
Journal:  Surv Ophthalmol       Date:  2006 Mar-Apr       Impact factor: 6.048

3.  Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa.

Authors:  Daniel Mordes; Liya Yuan; Lili Xu; Mariko Kawada; Robert S Molday; Jane Y Wu
Journal:  Neurobiol Dis       Date:  2007-03-09       Impact factor: 5.996

Review 4.  Molecular genetics of macular degeneration.

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

5.  PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.

Authors:  Manon H C A Peeters; Mubeen Khan; Anoek A M B Rooijakkers; Timo Mulders; Lonneke Haer-Wigman; Camiel J F Boon; Caroline C W Klaver; L Ingeborgh van den Born; Carel B Hoyng; Frans P M Cremers; Anneke I den Hollander; Claire-Marie Dhaenens; Rob W J Collin
Journal:  Hum Mutat       Date:  2021-09-20       Impact factor: 4.700

Review 6.  What drives cell morphogenesis: a look inside the vertebrate photoreceptor.

Authors:  Breandán Kennedy; Jarema Malicki
Journal:  Dev Dyn       Date:  2009-09       Impact factor: 3.780

7.  The Late Endosomal Pathway Regulates the Ciliary Targeting of Tetraspanin Protein Peripherin 2.

Authors:  Wataru Otsu; Ya-Chu Hsu; Jen-Zen Chuang; Ching-Hwa Sung
Journal:  J Neurosci       Date:  2019-02-28       Impact factor: 6.709

8.  Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.

Authors:  Nicole T M Saksens; Mark P Krebs; Frederieke E Schoenmaker-Koller; Wanda Hicks; Minzhong Yu; Lanying Shi; Lucy Rowe; Gayle B Collin; Jeremy R Charette; Stef J Letteboer; Kornelia Neveling; Tamara W van Moorsel; Sleiman Abu-Ltaif; Elfride De Baere; Sophie Walraedt; Sandro Banfi; Francesca Simonelli; Frans P M Cremers; Camiel J F Boon; Ronald Roepman; Bart P Leroy; Neal S Peachey; Carel B Hoyng; Patsy M Nishina; Anneke I den Hollander
Journal:  Nat Genet       Date:  2015-12-21       Impact factor: 38.330
  8 in total

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