Literature DB >> 9660588

Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa.

S Gu, A Lennon, Y Li, B Lorenz, M Fossarello, M North, A Gal, A Wright.   

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Year:  1998        PMID： 9660588     DOI： 10.1016/S0140-6736(05)79384-3

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  31 in total

1.  [Genetic and clinical heterogeneity in LCA patients. The end of uniformity].

Authors:  M N Preising; K Paunescu; C Friedburg; B Lorenz
Journal:  Ophthalmologe       Date:  2007-06       Impact factor: 1.059

2.  Early synaptic defects in tulp1-/- mice.

Authors:  Gregory H Grossman; Gayle J T Pauer; Umadevi Narendra; Neal S Peachey; Stephanie A Hagstrom
Journal:  Invest Ophthalmol Vis Sci       Date:  2009-02-14       Impact factor: 4.799

3.  The Disease Protein Tulp1 Is Essential for Periactive Zone Endocytosis in Photoreceptor Ribbon Synapses.

Authors:  Silke Wahl; Venkat Giri Magupalli; Mayur Dembla; Rashmi Katiyar; Karin Schwarz; Louise Köblitz; Kannan Alpadi; Elmar Krause; Jens Rettig; Ching-Hwa Sung; Andrew F X Goldberg; Frank Schmitz
Journal:  J Neurosci       Date:  2016-02-24       Impact factor: 6.167

4.  Tubby-like protein 1 (TULP1) interacts with F-actin in photoreceptor cells.

Authors:  Quansheng Xi; Gayle J T Pauer; Alan D Marmorstein; John W Crabb; Stephanie A Hagstrom
Journal:  Invest Ophthalmol Vis Sci       Date:  2005-12       Impact factor: 4.799

5.  Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.

Authors:  Muhammad Iqbal; Muhammad Asif Naeem; S Amer Riazuddin; Shahbaz Ali; Tahir Farooq; Zaheeruddin A Qazi; Shaheen N Khan; Tayyab Husnain; Saima Riazuddin; Paul A Sieving; J Fielding Hejtmancik; Sheikh Riazuddin
Journal:  Arch Ophthalmol       Date:  2011-10

6.  Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis.

Authors:  Quansheng Xi; Gayle J T Pauer; Elias I Traboulsi; Stephanie A Hagstrom
Journal:  Exp Eye Res       Date:  2006-04-27       Impact factor: 3.467

7.  Immunocytochemical evidence of Tulp1-dependent outer segment protein transport pathways in photoreceptor cells.

Authors:  Gregory H Grossman; Rao F Watson; Gayle J T Pauer; Kathryn Bollinger; Stephanie A Hagstrom
Journal:  Exp Eye Res       Date:  2011-08-16       Impact factor: 3.467

8.  Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families.

Authors:  Maxime Hebrard; Gaël Manes; Béatrice Bocquet; Isabelle Meunier; Delphine Coustes-Chazalette; Emilie Hérald; Audrey Sénéchal; Anne Bolland-Augé; Diana Zelenika; Christian P Hamel
Journal:  Eur J Hum Genet       Date:  2011-07-27       Impact factor: 4.246

9.  Interaction between the photoreceptor-specific tubby-like protein 1 and the neuronal-specific GTPase dynamin-1.

Authors:  Quansheng Xi; Gayle J T Pauer; Sherry L Ball; Mary Rayborn; Joe G Hollyfield; Neal S Peachey; John W Crabb; Stephanie A Hagstrom
Journal:  Invest Ophthalmol Vis Sci       Date:  2007-06       Impact factor: 4.799

10.  TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.

Authors:  Samuel G Jacobson; Artur V Cideciyan; Wei Chieh Huang; Alexander Sumaroka; Alejandro J Roman; Sharon B Schwartz; Xunda Luo; Rebecca Sheplock; Joanna M Dauber; Malgorzata Swider; Edwin M Stone
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-07-29       Impact factor: 4.799
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