Literature DB >> 12787791

Human and mouse disorders of pigmentation.

Richard A Spritz1, Pei Wen Chiang, Naoki Oiso, Asem Alkhateeb.   

Abstract

Disorders of pigmentation were among the first genetic diseases ever recognized because of their visually striking clinical phenotypes, resulting from defects of pigmentary melanocytes. Recent years have seen remarkable progress in understanding these diseases, largely as a result of the systematic parallel study of human patients and inbred mice with similar phenotypes. Our understanding of disorders of pigmentation indicates that these diseases may be most usefully considered as abnormalities of melanocyte development, function, or survival.

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Mesh：

Year:  2003        PMID： 12787791     DOI： 10.1016/s0959-437x(03)00059-5

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN： 0959-437X            Impact factor:   5.578


  19 in total

1.  BLOC-2, AP-3, and AP-1 proteins function in concert with Rab38 and Rab32 proteins to mediate protein trafficking to lysosome-related organelles.

Authors:  Jarred J Bultema; Andrea L Ambrosio; Carolyn L Burek; Santiago M Di Pietro
Journal:  J Biol Chem       Date:  2012-04-16       Impact factor: 5.157

Review 2.  Shared genetic relationships underlying generalized vitiligo and autoimmune thyroid disease.

Authors:  Richard A Spritz
Journal:  Thyroid       Date:  2010-07       Impact factor: 6.568

Review 3.  Melanosomes--dark organelles enlighten endosomal membrane transport.

Authors:  Graça Raposo; Michael S Marks
Journal:  Nat Rev Mol Cell Biol       Date:  2007-10       Impact factor: 94.444

Review 4.  Epithelial-mesenchymal transitions: the importance of changing cell state in development and disease.

Authors:  Hervé Acloque; Meghan S Adams; Katherine Fishwick; Marianne Bronner-Fraser; M Angela Nieto
Journal:  J Clin Invest       Date:  2009-06-01       Impact factor: 14.808

5.  Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.

Authors:  Pedro J Santiago Borrero; Yolanda Rodríguez-Pérez; Jessicca Y Renta; Natalio J Izquierdo; Laura Del Fierro; Daniel Muñoz; Norma López Molina; Sonia Ramírez; Glorivee Pagán-Mercado; Idith Ortíz; Enid Rivera-Caragol; Richard A Spritz; Carmen L Cadilla
Journal:  J Invest Dermatol       Date:  2006-01       Impact factor: 8.551

6.  Update on the genetics characterization of vitiligo.

Authors:  Hani A Al-Shobaili
Journal:  Int J Health Sci (Qassim)       Date:  2011-07

7.  Update on the regulation of mammalian melanocyte function and skin pigmentation.

Authors:  Taisuke Kondo; Vincent J Hearing
Journal:  Expert Rev Dermatol       Date:  2011-02-01

8.  The MADS box transcription factor MEF2C regulates melanocyte development and is a direct transcriptional target and partner of SOX10.

Authors:  Pooja Agarwal; Michael P Verzi; Thuyen Nguyen; Jianxin Hu; Melissa L Ehlers; David J McCulley; Shan-Mei Xu; Evdokia Dodou; Joshua P Anderson; Maria L Wei; Brian L Black
Journal:  Development       Date:  2011-06       Impact factor: 6.868

Review 9.  Physiological factors that regulate skin pigmentation.

Authors:  Yuji Yamaguchi; Vincent J Hearing
Journal:  Biofactors       Date:  2009 Mar-Apr       Impact factor: 6.113

10.  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
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