Literature DB >> 14627685

Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation.

A Iannaccone, D K Breuer, X F Wang, S F Kuo, E M Normando, E Filippova, A Baldi, S Hiriyanna, C B MacDonald, F Baldi, D Cosgrove, C C Morton, A Swaroop, M M Jablonski.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 14627685      PMCID： PMC1735323          DOI： 10.1136/jmg.40.11.e118

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


× No keyword cloud information.
  38 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.  RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins.

Authors:  Hemant Khanna; Toby W Hurd; Concepcion Lillo; Xinhua Shu; Sunil K Parapuram; Shirley He; Masayuki Akimoto; Alan F Wright; Ben Margolis; David S Williams; Anand Swaroop
Journal:  J Biol Chem       Date:  2005-07-25       Impact factor: 5.157

4.  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

5.  Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP.

Authors:  Qihong Zhang; Joseph C Giacalone; Charles Searby; Edwin M Stone; Budd A Tucker; Val C Sheffield
Journal:  Proc Natl Acad Sci U S A       Date:  2019-01-08       Impact factor: 11.205

Review 6.  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

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

8.  Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.

Authors:  Erwin van Wijk; Ferry F J Kersten; Aileen Kartono; Dorus A Mans; Kim Brandwijk; Stef J F Letteboer; Theo A Peters; Tina Märker; Xiumin Yan; Cor W R J Cremers; Frans P M Cremers; Uwe Wolfrum; Ronald Roepman; Hannie Kremer
Journal:  Hum Mol Genet       Date:  2008-09-30       Impact factor: 6.150

9.  Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration.

Authors:  Carlos A Murga-Zamalloa; Stephen J Atkins; Johan Peranen; Anand Swaroop; Hemant Khanna
Journal:  Hum Mol Genet       Date:  2010-07-14       Impact factor: 6.150

10.  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
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.