Literature DB >> 12920075

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections.

I Zito, S M Downes, R J Patel, M E Cheetham, N D Ebenezer, S A Jenkins, S S Bhattacharya, A R Webster, G E Holder, A C Bird, D E Bamiou, A J Hardcastle.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 12920075      PMCID： PMC1735548          DOI： 10.1136/jmg.40.8.609

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  47 in total

Review 1.  Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms.

Authors:  Paulo A Ferreira
Journal:  Hum Mol Genet       Date:  2005-10-15       Impact factor: 6.150

2.  Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis.

Authors:  Xinrong Lu; Mallikarjuna Guruju; John Oswald; Paulo A Ferreira
Journal:  Hum Mol Genet       Date:  2005-03-30       Impact factor: 6.150

3.  DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

Authors:  Nada Hornef; Heike Olbrich; Judit Horvath; Maimoona A Zariwala; Manfred Fliegauf; Niki Tomas Loges; Johannes Wildhaber; Peadar G Noone; Marcus Kennedy; Stylianos E Antonarakis; Jean-Louis Blouin; Lucia Bartoloni; Thomas Nüsslein; Peter Ahrens; Matthias Griese; Heiner Kuhl; Ralf Sudbrak; Michael R Knowles; Richard Reinhardt; Heymut Omran
Journal:  Am J Respir Crit Care Med       Date:  2006-04-20       Impact factor: 21.405

Review 4.  Gene mutations in primary ciliary dyskinesia related to otitis media.

Authors:  Manuel Mata; Lara Milian; Miguel Armengot; Carmen Carda
Journal:  Curr Allergy Asthma Rep       Date:  2014-03       Impact factor: 4.806

5.  Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations.

Authors:  R Da Costa; E Glaus; A Tiwari; B Kloeckener-Gruissem; W Berger; J Neidhardt
Journal:  Gene Ther       Date:  2015-01-29       Impact factor: 5.250

Review 6.  Photoreceptor Cilia and Retinal Ciliopathies.

Authors:  Kinga M Bujakowska; Qin Liu; Eric A Pierce
Journal:  Cold Spring Harb Perspect Biol       Date:  2017-10-03       Impact factor: 10.005

Review 7.  Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR.

Authors:  William A Beltran; Artur V Cideciyan; Alfred S Lewin; William W Hauswirth; Samuel G Jacobson; Gustavo D Aguirre
Journal:  Cold Spring Harb Perspect Med       Date:  2014-10-09       Impact factor: 6.915

Review 8.  Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure.

Authors:  Adam J Shapiro; Margaret W Leigh
Journal:  Ultrastruct Pathol       Date:  2017-09-15       Impact factor: 1.094

9.  Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.

Authors:  Kari Branham; Mohammad Othman; Matthew Brumm; Athanasios J Karoukis; Pelin Atmaca-Sonmez; Beverly M Yashar; Sharon B Schwartz; Niamh B Stover; Karmen Trzupek; Dianna Wheaton; Barbara Jennings; Maria Laura Ciccarelli; K Thiran Jayasundera; Richard A Lewis; David Birch; Jean Bennett; Paul A Sieving; Sten Andreasson; Jacque L Duncan; Gerald A Fishman; Alessandro Iannaccone; Richard G Weleber; Samuel G Jacobson; John R Heckenlively; Anand Swaroop
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-12-13       Impact factor: 4.799

Review 10.  RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.

Authors:  Carlos A Murga-Zamalloa; Anand Swaroop; Hemant Khanna
Journal:  J Genet       Date:  2009-12       Impact factor: 1.166
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.