메뉴 건너뛰기




Volumn 28, Issue 5-6, 2013, Pages 387-391

The hermansky-pudlak syndrome: Clinical features and imperatives from an ophthalmic perspective

Author keywords

Albinism; Bleeding; Diathesis; Fibrosis; Oculocutaneous; Pulmonary

Indexed keywords

ALBINISM; CLINICAL FEATURE; EYE FUNDUS; HUMAN; OCULAR ALBINISM; OCULOCUTANEOUS ALBINISM; OPHTHALMOLOGIST; PRIORITY JOURNAL; REVIEW;

EID: 84886416092     PISSN: 08820538     EISSN: 17445205     Source Type: Journal    
DOI: 10.3109/08820538.2013.825280     Document Type: Review
Times cited : (9)

References (26)
  • 1
    • 6444236367 scopus 로고
    • Albinism associated with hemor-rhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies
    • Hermansky F, Pudlak P. Albinism associated with hemor-rhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies. Blood 1959;14:162-169.
    • (1959) Blood , vol.14 , pp. 162-169
    • Hermansky, F.1    Pudlak, P.2
  • 2
    • 33644764019 scopus 로고    scopus 로고
    • Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico
    • Santiago Borrero PJ, Rodŕiguez-Pérez Y, Renta JY, et al. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol 2006; 126(1):85-90.
    • (2006) J Invest Dermatol , vol.126 , Issue.1 , pp. 85-90
    • Santiago Borrero, P.J.1    Rodŕiguez-Pérez, Y.2    Renta, J.Y.3
  • 3
    • 0034177476 scopus 로고    scopus 로고
    • A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation
    • Shotelersuk V, Dell'Angelica EC, Hartnell L, et al. A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation. Am J Med 2000; 108:423-427.
    • (2000) Am J Med , vol.108 , pp. 423-427
    • Shotelersuk, V.1    Dell'Angelica, E.C.2    Hartnell, L.3
  • 5
    • 52949149668 scopus 로고    scopus 로고
    • Disorders of lysosome-related organelle biogenesis: Clinical and molecular genetics
    • Huizing M, Helip-Wooley A, Westbroek W, et al. Disorders of lysosome-related organelle biogenesis: Clinical and molecular genetics. Annu Rev Genomics Hum Genet 2008;9: 359-386.
    • (2008) Annu Rev Genomics Hum Genet , vol.9 , pp. 359-386
    • Huizing, M.1    Helip-Wooley, A.2    Westbroek, W.3
  • 6
    • 0035150104 scopus 로고    scopus 로고
    • AP-3 mediates tyrosinase but not TRP-1 trafficking in human melano-cytes
    • Huizing M, Sarangarajan R, Strovel E, et al. AP-3 mediates tyrosinase but not TRP-1 trafficking in human melano-cytes. Mol Biol Cell 2001c;12:2075-2085.
    • (2001) Mol Biol Cell , vol.12 , pp. 2075-2085
    • Huizing, M.1    Sarangarajan, R.2    Strovel, E.3
  • 7
    • 18744416639 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome type 1: Gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases
    • Hermos CR, Huizing M, Kaiser-Kupfer MI, Gahl WA. Hermansky-Pudlak syndrome type 1: Gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. Hum Mutat 2002;20:482.
    • (2002) Hum Mutat , vol.20 , pp. 482
    • Hermos, C.R.1    Huizing, M.2    Kaiser-Kupfer, M.I.3    Gahl, W.A.4
  • 8
    • 84870847242 scopus 로고    scopus 로고
    • Molecular determinants of platelet delta storage pool deficiencies: An update
    • Masliah-Planchon J, Darnige L, Bellucci S. Molecular determinants of platelet delta storage pool deficiencies: An update. Br J Haematol 2013;160(1):5-11.
    • (2013) Br J Haematol , vol.160 , Issue.1 , pp. 5-11
    • Masliah-Planchon, J.1    Darnige, L.2    Bellucci, S.3
  • 9
    • 48049098771 scopus 로고    scopus 로고
    • Chronic ulcerative gastroduodenitis as a first gastrointestinal manifestation of Hermansky-Pudlak syndrome in a 10-year-old child
    • Lee AC, Poon KH, Lo WH, et al. Chronic ulcerative gastroduodenitis as a first gastrointestinal manifestation of Hermansky-Pudlak syndrome in a 10-year-old child. World J Gastroenterol 2008;14:2939-2941.
    • (2008) World J Gastroenterol , vol.14 , pp. 2939-2941
    • Lee, A.C.1    Poon, K.H.2    Lo, W.H.3
  • 10
    • 80052030733 scopus 로고    scopus 로고
    • The management of gastrointestinal disease in Hermansky-Pudlak syndrome
    • Mora AJ, Wolfsohn DM. The management of gastrointestinal disease in Hermansky-Pudlak syndrome. J Clin Gastroenterol 2011;45(8):700-702.
    • (2011) J Clin Gastroenterol , vol.45 , Issue.8 , pp. 700-702
    • Mora, A.J.1    Wolfsohn, D.M.2
  • 12
    • 79956266213 scopus 로고    scopus 로고
    • Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis
    • O'Brien K, Troendle J, Gochuico BR, et al. Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis. Mol Genet Metab 2011;103(2):128-134.
    • (2011) Mol Genet Metab , vol.103 , Issue.2 , pp. 128-134
    • O'Brien, K.1    Troendle, J.2    Gochuico, B.R.3
  • 13
    • 0032798812 scopus 로고    scopus 로고
    • Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene
    • Toro J, Turner M, Gahl WA. Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene. Arch Dermatol 1999;135:774-780.
    • (1999) Arch Dermatol , vol.135 , pp. 774-780
    • Toro, J.1    Turner, M.2    Gahl, W.A.3
  • 14
    • 77955014478 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome: The importance of molecular subtyping
    • Thielen N, Huizing M, Krabbe JG, et al. Hermansky-Pudlak syndrome: The importance of molecular subtyping. J Thromb Haemost 2010;8:1643-1645.
    • (2010) J Thromb Haemost , vol.8 , pp. 1643-1645
    • Thielen, N.1    Huizing, M.2    Krabbe, J.G.3
  • 15
    • 84883869225 scopus 로고
    • Hermansky-pudlak syndrome
    • (Pagon RA Bird TD Dolan CR et al. Eds.); Seattle WA: University of Washington, [Last accessed 2 Nov 2012]
    • TM (Pagon RA, Bird TD, Dolan CR, et al., Eds.); Seattle, WA: University of Washington, 1993. Available at: http://www.ncbi.nlm.nih.gov/books/ NBK1287/[Last accessed 2 Nov 2012].
    • (1993) TM
    • Gahl, W.A.1    Huizing, M.2
  • 16
    • 33745083115 scopus 로고    scopus 로고
    • Innate immunity defects in Hermansky-Pudlak type 2 syndrome
    • Fontana S, Parolini S, Vermi W, et al. Innate immunity defects in Hermansky-Pudlak type 2 syndrome. Blood 2006; 107:4857-4864.
    • (2006) Blood , vol.107 , pp. 4857-4864
    • Fontana, S.1    Parolini, S.2    Vermi, W.3
  • 17
    • 18544384692 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene
    • Suzuki T, Wei L, Zhang Q, et al. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet 2002;30: 321-324.
    • (2002) Nat Genet , vol.30 , pp. 321-324
    • Suzuki, T.1    Wei, L.2    Zhang, Q.3
  • 18
    • 0034764945 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency
    • Huizing M, Anikster Y, Fitzpatrick DL, et al. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum Genet 2001a;69: 1022-1032.
    • (2001) Am J Hum Genet , vol.69 , pp. 1022-1032
    • Huizing, M.1    Anikster, Y.2    Fitzpatrick, D.L.3
  • 19
    • 1842588760 scopus 로고    scopus 로고
    • Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6
    • Di Pietro SM, Falcon-Perez JM, Dell'Angelica EC. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. Traffic 2004;5:276-283.
    • (2004) Traffic , vol.5 , pp. 276-283
    • Di Pietro, S.M.1    Falcon-Perez, J.M.2    Dell'Angelica, E.C.3
  • 20
    • 0037666799 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome type 4 (HPS-4): Clinical and molecular characteristics
    • Anderson PD, Huizing M, Claassen DA, et al. Hermansky-Pudlak syndrome type 4 (HPS-4): Clinical and molecular characteristics. Hum Genet 2003;113:10-17.
    • (2003) Hum Genet , vol.113 , pp. 10-17
    • Anderson, P.D.1    Huizing, M.2    Claassen, D.A.3
  • 21
    • 4444367420 scopus 로고    scopus 로고
    • Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5
    • Huizing M, Hess R, Dorward H, et al. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Traffic 2004;5:711-722.
    • (2004) Traffic , vol.5 , pp. 711-722
    • Huizing, M.1    Hess, R.2    Dorward, H.3
  • 22
    • 72749102947 scopus 로고    scopus 로고
    • Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6
    • December
    • Huizing M, Pederson B, Hess RA, et al. Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. J Med Genet 2009 December; 46(12):803-810.
    • (2009) J Med Genet , vol.46 , Issue.12 , pp. 803-810
    • Huizing, M.1    Pederson, B.2    Hess, R.A.3
  • 23
    • 0037008731 scopus 로고    scopus 로고
    • BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules
    • Falcon-Perez JM, Starcevic M, Gautam R, Dell'Angelica EC. BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules. J Biol Chem 2002;277: 28191-28199.
    • (2002) J Biol Chem , vol.277 , pp. 28191-28199
    • Falcon-Perez, J.M.1    Starcevic, M.2    Gautam, R.3    Dell'Angelica, E.C.4
  • 24
    • 0041854263 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)
    • Li W, Zhang Q, Oiso N, et al. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet 2003;35:84-89.
    • (2003) Nat Genet , vol.35 , pp. 84-89
    • Li, W.1    Zhang, Q.2    Oiso, N.3
  • 25
    • 84865555197 scopus 로고    scopus 로고
    • A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8 (HPS-8)
    • Cullinane AR, Curry JA, Golas G, et al. A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8 (HPS-8). Pigment Cell Melanoma Res 2012;25:584-591.
    • (2012) Pigment Cell Melanoma Res , vol.25 , pp. 584-591
    • Cullinane, A.R.1    Curry, J.A.2    Golas, G.3
  • 26
    • 79958805251 scopus 로고    scopus 로고
    • A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak syndrome type 9
    • Cullinane AR, Curry JA, Carmona-Rivera C, et al. A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak syndrome type 9. Am J Hum Genet 2011;88:778-787.
    • (2011) Am J Hum Genet , vol.88 , pp. 778-787
    • Cullinane, A.R.1    Curry, J.A.2    Carmona-Rivera, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.