메뉴 건너뛰기




Volumn 14, Issue 3, 2001, Pages 533-546

Albinism

Author keywords

[No Author keywords available]

Indexed keywords

ALBINISM; CHILD; DISEASE CLASSIFICATION; EMBRYO DEVELOPMENT; EYE DISEASE; HAIR DISEASE; HUMAN; HYPOPIGMENTATION; INFANT; OPTIC NERVE DISEASE; PIGMENT DISORDER; PRIORITY JOURNAL; RETINA DEGENERATION; REVIEW; SKIN DISEASE;

EID: 0034762671     PISSN: 08961549     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0896-1549(05)70251-0     Document Type: Article
Times cited : (16)

References (105)
  • 10
    • 0029039291 scopus 로고
    • Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arises from a secretory defect that prevents lytic granule exocytosis
    • (1995) J Immunol , vol.154 , pp. 6122-6131
    • Baetz, K.1    Isaaz, S.2    Griffiths, G.M.3
  • 12
    • 0017900519 scopus 로고
    • Heterogeneity in Waardenburg's syndrome: Report of a family with ocular albinism
    • (1978) Arch Ophthalmol , vol.96 , pp. 1193-1198
    • Bard, C.A.1
  • 20
    • 0029886028 scopus 로고    scopus 로고
    • Mutation in and a lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: A new subtype of albinism classified as "OCA3."
    • (1996) Am J Hum Genet , vol.58 , pp. 1145-1156
    • Boissy, R.E.1    Zhao, H.2    Oetting, W.S.3
  • 22
    • 0031716330 scopus 로고    scopus 로고
    • Altered protein localisation in melanocytes from Hermansky-Pudlak syndrome: Support for the role of HPS gene product in intracellular trafficking
    • (1998) Lab Invest , vol.78 , pp. 1037-1048
    • Boissy, R.E.1    Zhao, Y.2    Gahl, W.A.3
  • 31
    • 0002286027 scopus 로고
    • Sex-linked ocular albinism displaying typical fundus changes in the female heterozygote
    • (1951) Am J Ophthalmol , vol.34 , pp. 41-50
    • Falls, H.F.1
  • 33
    • 0032587547 scopus 로고    scopus 로고
    • The β3A subunit gene (Apb1) of the AP-3 adapter complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness
    • (1999) Hum Mol Genet , vol.8 , pp. 323-330
    • Feng, G.H.1    Seymour, A.B.2    Jiang, S.3
  • 36
    • 0344573032 scopus 로고    scopus 로고
    • Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)
    • (1999) Arch Ophthalmol , vol.117 , pp. 251-252
    • Fulton, A.B.1
  • 39
  • 42
    • 0034672242 scopus 로고    scopus 로고
    • Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3 independent mechanism
    • (2000) Blood , vol.96 , pp. 4227-4235
    • Gwynn, B.1    Ciciotte, S.L.2    Hunter, S.J.3
  • 44
  • 47
    • 0033559105 scopus 로고    scopus 로고
    • Retinal mitosis is regulated by dopa, a melanin precursor that may influence the time at which cells exit the cell cycle: Analysis of patterns of cell production in pigmented and albino retina
    • (1999) J Comparative Neurology , vol.405 , pp. 394-405
    • Ilia, M.1    Jeffery, G.2
  • 52
    • 0032126699 scopus 로고    scopus 로고
    • Mutation in AP-3 δ in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes and synaptic vesicles
    • (1998) Neuron , vol.21 , pp. 111-122
    • Kantheti, P.1    Qiao, X.2    Diaz, M.E.3
  • 72
    • 17344369131 scopus 로고    scopus 로고
    • Mutation analysis of patients with Hermansky-Pudlak syndrome: A frameshift hot spot in the HPS gene and apparent locus heterogeneity
    • (1998) Am J Hum Genet , vol.62 , pp. 593-598
    • Oh, J.1    Ala-Mello, S.2    Amato, D.3
  • 73
    • 0034639713 scopus 로고    scopus 로고
    • The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes
    • (2000) Hum Mol Genet , vol.9 , pp. 375-385
    • Oh, J.1    Liu, Z.X.2    Feng, G.H.3
  • 86
    • 0001184586 scopus 로고
    • Noah - An albino
    • (1958) BMJ , vol.2 , pp. 1587-1598
    • Sorsby, A.1
  • 89
    • 0033199772 scopus 로고    scopus 로고
    • Multi-organellar disorders of pigmentation; Intracellular traffic jams in mammals, flies and yeast
    • (1999) Trends Genet , vol.15 , pp. 37-40
    • Spritz, R.A.1
  • 90


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.