Literature DB >> 3317446

Clinical investigation of retinitis pigmentosa.

A C Bird1.   

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Year:  1987        PMID： 3317446

Source DB:  PubMed          Journal:  Prog Clin Biol Res        ISSN： 0361-7742


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  7 in total

1.  Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina.

Authors:  Kollu N Rao; Linjing Li; Wei Zhang; Richard S Brush; Raju V S Rajala; Hemant Khanna
Journal:  Hum Mol Genet       Date:  2016-01-24       Impact factor: 6.150

Review 2.  Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).

Authors:  Carlos Murga-Zamalloa; Anand Swaroop; Hemant Khanna
Journal:  Adv Exp Med Biol       Date:  2010       Impact factor: 2.622

3.  RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa.

Authors:  A Moore; E Escudier; G Roger; A Tamalet; B Pelosse; S Marlin; A Clément; M Geremek; B Delaisi; A-M Bridoux; A Coste; M Witt; B Duriez; S Amselem
Journal:  J Med Genet       Date:  2005-07-31       Impact factor: 6.318

Review 4.  Ocular Ciliopathies: Genetic and Mechanistic Insights into Developing Therapies.

Authors:  Mahesh Shivanna; Manisha Anand; Subhabrata Chakrabarti; Hemant Khanna
Journal:  Curr Med Chem       Date:  2019       Impact factor: 4.530

5.  Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants.

Authors:  Suresh B Patil; Toby W Hurd; Amiya K Ghosh; Carlos A Murga-Zamalloa; Hemant Khanna
Journal:  PLoS One       Date:  2011-06-27       Impact factor: 3.240

6.  RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP).

Authors:  Laura Moreno-Leon; Emma L West; Michelle O'Hara-Wright; Linjing Li; Rohini Nair; Jie He; Manisha Anand; Bhubanananda Sahu; Venkat Ramana Murthy Chavali; Alexander J Smith; Robin R Ali; Samuel G Jacobson; Artur V Cideciyan; Hemant Khanna
Journal:  Hum Mol Genet       Date:  2021-01-21       Impact factor: 6.150

7.  The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo.

Authors:  Kollu N Rao; Manisha Anand; Hemant Khanna
Journal:  Biol Open       Date:  2016-04-15       Impact factor: 2.422
  7 in total

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