메뉴 건너뛰기




Volumn 27, Issue 5, 2006, Pages 402-407

Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database

Author keywords

Albinism; Database; Hermansky Pudlak Syndrome; HPS; HPSD

Indexed keywords

GENE PRODUCT; PROTEIN;

EID: 33646338630     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20309     Document Type: Review
Times cited : (37)

References (16)
  • 4
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
    • (2000) Hum Mutat , vol.15 , pp. 7-12
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 5
    • 21044448584 scopus 로고    scopus 로고
    • The cell biology of Hermansky-Pudlak syndrome: Recent advances
    • Di Pietro SM, Dell'Angelica EC. 2005. The cell biology of Hermansky-Pudlak syndrome: recent advances. Traffic 6:525-533.
    • (2005) Traffic , vol.6 , pp. 525-533
    • Di Pietro, S.M.1    Dell'Angelica, E.C.2
  • 6
    • 2942576133 scopus 로고    scopus 로고
    • The interplay of fold recognition and experimental structure determination in structural genomics
    • Friedberg I, Jaroszewski L, Ye Y, Godzik A. 2004. The interplay of fold recognition and experimental structure determination in structural genomics. Curr Opin Struct Biol 14:307-312.
    • (2004) Curr Opin Struct Biol , vol.14 , pp. 307-312
    • Friedberg, I.1    Jaroszewski, L.2    Ye, Y.3    Godzik, A.4
  • 8
    • 6444236367 scopus 로고
    • Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies
    • Hermansky F, Pudlak P. 1959. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 14:162-169.
    • (1959) Blood , vol.14 , pp. 162-169
    • Hermansky, F.1    Pudlak, P.2
  • 10
    • 0035990977 scopus 로고    scopus 로고
    • Disorders of vesicles of lysosomal lineage: The Hermansky-Pudlak syndromes
    • Huizing M, Gahl WA. 2002. Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. Curr Mol Med 2:451-467.
    • (2002) Curr Mol Med , vol.2 , pp. 451-467
    • Huizing, M.1    Gahl, W.A.2
  • 11
    • 0028941794 scopus 로고
    • Nuclear degradation of nonsense mutated beta-globin mRNA: A post-transcriptional mechanism to protect heterozygotes from severe clinical manifestations of beta-thalassemia?
    • Kugler W, Enssle J, Hentze MW, Kulozik AE. 1995. Nuclear degradation of nonsense mutated beta-globin mRNA: a post-transcriptional mechanism to protect heterozygotes from severe clinical manifestations of beta-thalassemia? Nucleic Acids Res 23:413-418.
    • (1995) Nucleic Acids Res , vol.23 , pp. 413-418
    • Kugler, W.1    Enssle, J.2    Hentze, M.W.3    Kulozik, A.E.4
  • 12
    • 2942562170 scopus 로고    scopus 로고
    • Murine Hermansky-Pudlak syndrome genes: Regulators of lysosome-related organelles
    • Li W, Rusiniak ME, Chintala S, Gautam R, Novak EK, Swank RT. 2004. Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles. BioEssays 26:616-628.
    • (2004) BioEssays , vol.26 , pp. 616-628
    • Li, W.1    Rusiniak, M.E.2    Chintala, S.3    Gautam, R.4    Novak, E.K.5    Swank, R.T.6
  • 13
    • 0742323558 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay: Splicing, translation and mRNP dynamics
    • Maquat LE. 2004. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol 5:89-99.
    • (2004) Nat Rev Mol Cell Biol , vol.5 , pp. 89-99
    • Maquat, L.E.1
  • 14
    • 0030293220 scopus 로고    scopus 로고
    • Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles
    • Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao J, Frenk E, Tamura N, Spritz RA. 1996. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 14:300-306.
    • (1996) Nat Genet , vol.14 , pp. 300-306
    • Oh, J.1    Bailin, T.2    Fukai, K.3    Feng, G.H.4    Ho, L.5    Mao, J.6    Frenk, E.7    Tamura, N.8    Spritz, R.A.9
  • 16
    • 2542631929 scopus 로고    scopus 로고
    • Single-body residue-level knowledge-based energy score combined with sequence-profile and secondary structure information for fold recognition
    • Zhou H, Zhou Y. 2004. Single-body residue-level knowledge-based energy score combined with sequence-profile and secondary structure information for fold recognition. Proteins 55:1005-1013.
    • (2004) Proteins , vol.55 , pp. 1005-1013
    • Zhou, H.1    Zhou, Y.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.