Literature DB >> 8111389

Heterozygous 'null allele' mutation in the human peripherin/RDS gene.

M Meins1, G Grüning, A Blankenagel, H Krastel, B Reck, S Fuchs, E Schwinger, A Gal.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1993        PMID： 8111389     DOI： 10.1093/hmg/2.12.2181

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


× No keyword cloud information.
  13 in total

1.  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

2.  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

3.  Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.

Authors:  B P Leroy; A Kailasanathan; J-J De Laey; G C M Black; F D C Manson
Journal:  Br J Ophthalmol       Date:  2006-08-17       Impact factor: 4.638

4.  Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

Authors:  M M Sohocki; S P Daiger; S J Bowne; J A Rodriquez; H Northrup; J R Heckenlively; D G Birch; H Mintz-Hittner; R S Ruiz; R A Lewis; D A Saperstein; L S Sullivan
Journal:  Hum Mutat       Date:  2001       Impact factor: 4.878

5.  Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa.

Authors:  W Kedzierski; S Nusinowitz; D Birch; G Clarke; R R McInnes; D Bok; G H Travis
Journal:  Proc Natl Acad Sci U S A       Date:  2001-06-26       Impact factor: 11.205

6.  Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1.

Authors:  A F Goldberg; R S Molday
Journal:  Proc Natl Acad Sci U S A       Date:  1996-11-26       Impact factor: 11.205

7.  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

Review 8.  Finding and interpreting genetic variations that are important to ophthalmologists.

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

9.  Molecular characterization of the skate peripherin/rds gene: relationship to its orthologues and paralogues.

Authors:  Chibo Li; Xi-Qin Ding; John O'Brien; Muayyad R Al-Ubaidi; Muna I Naash
Journal:  Invest Ophthalmol Vis Sci       Date:  2003-06       Impact factor: 4.799

10.  Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.

Authors:  E Apfelstedt-Sylla; M Theischen; K Rüther; H Wedemann; A Gal; E Zrenner
Journal:  Br J Ophthalmol       Date:  1995-01       Impact factor: 4.638
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.