Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes

British Journal of Dermatology

Volumn 143, Issue 3, 2000, Pages 635-640

  Horikawa, T ^a   Araki, K ^a   Fukai, K ^b   Ueda, M ^a   Ueda, T ^a   Ito, S ^c   Ichihashi, M ^a  

^a KOBE UNIVERSITY   (Japan)

^b OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c FUJITA HEALTH UNIVERSITY   (Japan)

Author keywords

Gene analysis; Giant melanosomes; Hermansky Pudlak syndrome; HPS1

Indexed keywords

GENE PRODUCT; MELANIN;

ADULT; ARTICLE; BLEEDING TENDENCY; CASE REPORT; CODON; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; JAPAN; MALE; MELANOCYTE; MELANOSOME; OCULAR ALBINISM; OCULOCUTANEOUS ALBINISM; PRIORITY JOURNAL;

ADULT; ALBINISM, OCULOCUTANEOUS; CELLS, CULTURED; FRAMESHIFT MUTATION; GIANT CELLS; HAIR; HETEROZYGOTE; HUMANS; MALE; MELANINS; MELANOCYTES; MELANOSOMES; MEMBRANE PROTEINS;

EID: 0033796132     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2000.03725.x     Document Type: Article

References (32)

1. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies
2. Hermansky-Pudlak syndrome: Case report and clinicopathological review
3. Albinism and Hermansky-Pudlak syndrome in Puerto Rico
4. Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3
5. Positional cloning of a gene for Hermansky-Pudlak syndrome
6. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor
7. Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene
8. Hermansky-Pudlak syndrome: Report of a case with histological, immunohistochemical and ultrastructural findings
9. Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: Support for the role of the HPS gene product in intracellular trafficking
10. The pigmentary disorder in a family with Hermansky-Pudlak syndrome
11. Hermansky-Pudlak syndrome in a Swiss population
12. Syndrome d'Hermansky-Pudlak dans un village valaisan
13. Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene
14. Chemical characterization of hair melanins in various coat-color mutants of mice
15. Melanocyte growth factor in normal human skin
16. Effective elimination of fibroblasts in cultures of melanocytes by lowering calcium concentration in TPA depleted medium following geneticin treatment
17. Mutation analysis of patients with Hermansky-Pudlak syndrome: A frameshift hot spot in the HPS gene and apparent locus heterogeneity
18. Chemical characterization of melanin in sheep wool and human hair
19. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)
20. Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome
21. Biological role of tyrosinase related protein and its biosynthesis and transport from TGN to stage I melanosome, late endosome, through gene transfection study
22. Intracellular sorting and targeting of melanosomal membrane proteins: Identification of signals for sorting of the human brown locus protein, gp75
23. Comparative analysis of melanins and melanosomes produced by various coat color mutants
24. Mouse models of Hermansky Pudlak syndrome: A review
25. The beta 3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness
26. A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3
27. Molecular basis of congenital hypopigmentary disorders in humans: A review
28. Decreased nucleotide and serotonin storage associated with defective function in Chediak-Higashi syndrome cattle and human platelets
29. The Chediak-Higashi syndrome: Formation of giant melanosomes and the basis of hypopigmentation
30. On the analysis of the pathophysiology of Chediak-Higashi syndrome. Defects expressed by cultured melanocytes
31. X-linked ocular albinism. An oculocutaneous macromelanosomal disorder
32. The nature and significance of macromelanosomes in pigmented skin lesions: Their morphological characteristics, specificity for their occurrence, and possible mechanisms for their formation