Literature DB >> 11139263

Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families.

M J Trujillo1, M Martinez-Gimeno, A Giménez, I Lorda, J Bueno, B García-Sandoval, C Ramos, M Carballo, C Ayuso.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2001        PMID： 11139263     DOI： 10.1002/1098-1004(2001)17:1<80::AID-HUMU27>3.0.CO;2-G

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


× No keyword cloud information.
  11 in total

1.  Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.

Authors:  Jacque L Duncan; Katherine E Talcott; Kavitha Ratnam; Sanna M Sundquist; Anya S Lucero; Shelley Day; Yuhua Zhang; Austin Roorda
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-03-01       Impact factor: 4.799

2.  Multimodal imaging of adult-onset foveomacular vitelliform dystrophy.

Authors:  Seanna Grob; Yoshihiro Yonekawa; Dean Eliott
Journal:  Saudi J Ophthalmol       Date:  2014-04

3.  The Cys214-->Ser mutation in peripherin/rds causes a loss-of-function phenotype in transgenic mice.

Authors:  Heidi M Stricker; Xi-Qin Ding; Alexander Quiambao; Steven J Fliesler; Muna I Naash
Journal:  Biochem J       Date:  2005-06-01       Impact factor: 3.857

4.  Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.

Authors:  Akio Oishi; Kaoru Fujinami; Go Mawatari; Nobuhisa Naoi; Yasuhiro Ikeda; Shinji Ueno; Kazuki Kuniyoshi; Takaaki Hayashi; Hiroyuki Kondo; Atsushi Mizota; Kei Shinoda; Sentaro Kusuhara; Makoto Nakamura; Takeshi Iwata; Akitaka Tsujikawa; Kazushige Tsunoda
Journal:  Genes (Basel)       Date:  2021-11-18       Impact factor: 4.096

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

6.  Uncoupling of photoreceptor peripherin/rds fusogenic activity from biosynthesis, subunit assembly, and targeting: a potential mechanism for pathogenic effects.

Authors:  Linda M Ritter; Kathleen Boesze-Battaglia; Beatrice M Tam; Orson L Moritz; Nidhi Khattree; Shu-Chu Chen; Andrew F X Goldberg
Journal:  J Biol Chem       Date:  2004-07-13       Impact factor: 5.157

7.  The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse.

Authors:  Michael W Stuck; Shannon M Conley; Muna I Naash
Journal:  Hum Mol Genet       Date:  2014-07-07       Impact factor: 6.150

8.  High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.

Authors:  María José Gamundi; Imma Hernan; Marta Muntanyola; María José Trujillo; Blanca García-Sandoval; Carmen Ayuso; Montserrat Baiget; Miguel Carballo
Journal:  Mol Vis       Date:  2007-06-28       Impact factor: 2.367

9.  Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.

Authors:  Caroline Van Cauwenbergh; Frauke Coppieters; Dimitri Roels; Sarah De Jaegere; Helena Flipts; Julie De Zaeytijd; Sophie Walraedt; Charlotte Claes; Erik Fransen; Guy Van Camp; Fanny Depasse; Ingele Casteels; Thomy de Ravel; Bart P Leroy; Elfride De Baere
Journal:  PLoS One       Date:  2017-01-11       Impact factor: 3.240

10.  A novel mutation in the PRPH2 gene in a Chinese pedigree with retinitis pigmentosa and angle-closure glaucoma.

Authors:  Wei-Ning Li; Xiu-Juan Du; Yu-Ting Zhang; Le-Yi Wang; Jing Zhu
Journal:  BMC Ophthalmol       Date:  2021-08-16       Impact factor: 2.209
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.