Literature DB >> 10422800

Multi-organellar disorders of pigmentation: tied up in traffic.

R A Spritz1.   

Abstract

Entities:  

Mesh：

Year:  1999        PMID： 10422800     DOI： 10.1034/j.1399-0004.1999.550503.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  7 in total

1.  Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).

Authors:  Javier Jardón; Natalio J Izquierdo; Jessica Y Renta; Omar García-Rodríguez; Carmen L Cadilla
Journal:  Ophthalmic Genet       Date:  2014-04-28       Impact factor: 1.803

2.  The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking.

Authors:  Qing Zhang; Wei Li; Edward K Novak; Amna Karim; Vishnu S Mishra; Stephen F Kingsmore; Bruce A Roe; Tamio Suzuki; Richard T Swank
Journal:  Hum Mol Genet       Date:  2002-03-15       Impact factor: 6.150

3.  Potential large animal models for gene therapy of human genetic diseases of immune and blood cell systems.

Authors:  Thomas R Bauer; Rima L Adler; Dennis D Hickstein
Journal:  ILAR J       Date:  2009

4.  The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation.

Authors:  Tamio Suzuki; Naoki Oiso; Rashi Gautam; Edward K Novak; Jean-Jacques Panthier; P G Suprabha; Thomas Vida; Richard T Swank; Richard A Spritz
Journal:  Proc Natl Acad Sci U S A       Date:  2003-01-21       Impact factor: 11.205

5.  Genetics of dark skin in mice.

Authors:  Karen R Fitch; Kelly A McGowan; Catherine D van Raamsdonk; Helmut Fuchs; Daekee Lee; Anne Puech; Yann Hérault; David W Threadgill; Martin Hrabé de Angelis; Gregory S Barsh
Journal:  Genes Dev       Date:  2003-01-15       Impact factor: 11.361

6.  The rat Ruby ( R) locus is Rab38: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain.

Authors:  Naoki Oiso; Suzette R Riddle; Tadao Serikawa; Takashi Kuramoto; Richard A Spritz
Journal:  Mamm Genome       Date:  2004-04       Impact factor: 2.957

Review 7.  Skin manifestations of primary immune deficiency.

Authors:  Heather Lehman
Journal:  Clin Rev Allergy Immunol       Date:  2014-04       Impact factor: 10.817
  7 in total

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