Literature DB >> 9545390

Segregation of a PRKCG mutation in two RP11 families.

M Al-Maghtheh, E N Vithana, C F Inglehearn, T Moore, A C Bird, S S Bhattacharya.   

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Year:  1998        PMID： 9545390      PMCID： PMC1377077          DOI： 10.1086/301819

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  7 in total

Review 1.  On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention.

Authors:  G Jane Farrar; Paul F Kenna; Peter Humphries
Journal:  EMBO J       Date:  2002-03-01       Impact factor: 11.598

2.  Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.

Authors:  Dong-Hui Chen; Zoran Brkanac; Christophe L M J Verlinde; Xiao-Jian Tan; Laura Bylenok; David Nochlin; Mark Matsushita; Hillary Lipe; John Wolff; Magali Fernandez; P J Cimino; Thomas D Bird; Wendy H Raskind
Journal:  Am J Hum Genet       Date:  2003-03-17       Impact factor: 11.025

Review 3.  Protein kinase C as a stress sensor.

Authors:  Micheal E Barnett; Daniel K Madgwick; Dolores J Takemoto
Journal:  Cell Signal       Date:  2007-06-12       Impact factor: 4.315

4.  Molecular genetics and structural genomics of the human protein kinase C gene module.

Authors:  Kurt Kofler; Martin Erdel; Gerd Utermann; Gottfried Baier
Journal:  Genome Biol       Date:  2002-02-27       Impact factor: 13.583

5.  Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14.

Authors:  Thomas Ihl; Ella M Kadas; Timm Oberwahrenbrock; Matthias Endres; Thomas Klockgether; Jan Schroeter; Alexander U Brandt; Friedemann Paul; Martina Minnerop; Sarah Doss; Tanja Schmitz-Hübsch; Hanna G Zimmermann
Journal:  Cerebellum       Date:  2020-08       Impact factor: 3.847

6.  Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.

Authors:  Viorica Chelban; Sarah Wiethoff; Bjørn K Fabian-Jessing; Nourelhoda A Haridy; Alaa Khan; Stephanie Efthymiou; Esther B E Becker; Emer O'Connor; Joshua Hersheson; Katrina Newland; Allan Thomas Hojland; Pernille A Gregersen; Suzanne G Lindquist; Michael B Petersen; Jørgen E Nielsen; Michael Nielsen; Nicholas W Wood; Paola Giunti; Henry Houlden
Journal:  Mov Disord       Date:  2018-03-30       Impact factor: 10.338

7.  Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins.

Authors:  Lourdes Valdés-Sánchez; Sofia M Calado; Berta de la Cerda; Ana Aramburu; Ana Belén García-Delgado; Simone Massalini; Adoración Montero-Sánchez; Vaibhav Bhatia; Eduardo Rodríguez-Bocanegra; Andrea Diez-Lloret; Daniel Rodríguez-Martínez; Christina Chakarova; Shom S Bhattacharya; Francisco J Díaz-Corrales
Journal:  Mol Med       Date:  2019-12-31       Impact factor: 6.354
  7 in total

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