메뉴 건너뛰기




Volumn 9, Issue 1, 1998, Pages 2-7

rim2 (recombination-induced mutation 2) is a new allele of pearl and a mouse model of human Hermansky-Pudlak Syndrome (HPS): Genetic and physical mapping

Author keywords

[No Author keywords available]

Indexed keywords

CYTOGENETICS; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENETIC RECOMBINATION; MAMMALIAN GENETICS;

EID: 15444350662     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003359900670     Document Type: Article
Times cited : (5)

References (30)
  • 1
    • 0029039291 scopus 로고
    • Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arises from a secretory defect that prevents lytic granule exocytosis
    • Baetz K, Isaaz S, Griffiths GM (1995) Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arises from a secretory defect that prevents lytic granule exocytosis. J Immunol 154, 6122-6131
    • (1995) J Immunol , vol.154 , pp. 6122-6131
    • Baetz, K.1    Isaaz, S.2    Griffiths, G.M.3
  • 2
    • 0020686498 scopus 로고
    • Discrete visual defects in pear mutant mice
    • Balkema GW, Mangini NJ, Pinto LH (1983) Discrete visual defects in pear mutant mice. Science 4, 1085-1087
    • (1983) Science , vol.4 , pp. 1085-1087
    • Balkema, G.W.1    Mangini, N.J.2    Pinto, L.H.3
  • 4
    • 0027515147 scopus 로고
    • The giant organelles in beige and Chediak-Higashi fibroblasts are derived from the late endosome and mature lysosomes
    • Burkhardt JK, Wiebel FA, Hester S, Argon Y (1993) The giant organelles in beige and Chediak-Higashi fibroblasts are derived from the late endosome and mature lysosomes. J Exp Med 178, 1845-1856
    • (1993) J Exp Med , vol.178 , pp. 1845-1856
    • Burkhardt, J.K.1    Wiebel, F.A.2    Hester, S.3    Argon, Y.4
  • 5
    • 84924838625 scopus 로고
    • Nouvelle anomalie leukocytaire de caractere constitutionnel et familiel
    • Chediak M (1952) Nouvelle anomalie leukocytaire de caractere constitutionnel et familiel. Hematology 7, 362-367
    • (1952) Hematology , vol.7 , pp. 362-367
    • Chediak, M.1
  • 6
    • 0030954169 scopus 로고    scopus 로고
    • Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron
    • Feng GH, Bailin T, Oh J, Spritz, RA (1997) Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. Hum Mol Genet 6, 793-797
    • (1997) Hum Mol Genet , vol.6 , pp. 793-797
    • Feng, G.H.1    Bailin, T.2    Oh, J.3    Spritz, R.A.4
  • 7
    • 0020068928 scopus 로고
    • The melanin pigmentary disorder in a family with Hermansky-Pudlak syndrome
    • Frenk E, Lattion F (1982) The melanin pigmentary disorder in a family with Hermansky-Pudlak syndrome. J Invest Dermatol 78, 141-143
    • (1982) J Invest Dermatol , vol.78 , pp. 141-143
    • Frenk, E.1    Lattion, F.2
  • 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
  • 9
    • 0001021096 scopus 로고
    • Congenital gigantism of peroxidase granules
    • Higashi O (1954) Congenital gigantism of peroxidase granules. Tohoku J Exp Med 59, 315-332
    • (1954) Tohoku J Exp Med , vol.59 , pp. 315-332
    • Higashi, O.1
  • 10
    • 0017254033 scopus 로고
    • Serotonin deficiency and prolonged bleeding in beige mice
    • Holland JM (1976) Serotonin deficiency and prolonged bleeding in beige mice. Proc Soc Exp Biol Med 151, 32
    • (1976) Proc Soc Exp Biol Med , vol.151 , pp. 32
    • Holland, J.M.1
  • 11
    • 0015293166 scopus 로고
    • Further evidence for a deficient storage pool of adenine nucleotides in platelets from some patients with thrombocytopenia - "Storage pool disease"
    • Holmsen H, Weiss HJ (1972) Further evidence for a deficient storage pool of adenine nucleotides in platelets from some patients with thrombocytopenia - "storage pool disease". Blood 39, 197
    • (1972) Blood , vol.39 , pp. 197
    • Holmsen, H.1    Weiss, H.J.2
  • 12
    • 0024842741 scopus 로고
    • Chromosomal localization and cDNA sequence of murine and human genes for ras p21 GTPase activating protein (GAP)
    • Hsieh C-L, Vogel US, Dixon RAF, Francke U (1989) Chromosomal localization and cDNA sequence of murine and human genes for ras p21 GTPase activating protein (GAP). Somatic Cell Mol Genet 15, 579-590
    • (1989) Somatic Cell Mol Genet , vol.15 , pp. 579-590
    • Hsieh, C.-L.1    Vogel, U.S.2    Dixon, R.A.F.3    Francke, U.4
  • 13
    • 0014154576 scopus 로고
    • Giant granules in leukocytes of the beige mouse
    • Lutzner MA, Lowrie CT, Jordan HW (1966) Giant granules in leukocytes of the beige mouse. Heredity 58, 299-300
    • (1966) Heredity , vol.58 , pp. 299-300
    • Lutzner, M.A.1    Lowrie, C.T.2    Jordan, H.W.3
  • 14
    • 0029117749 scopus 로고
    • A duplicated zone of polarizing activity in polydactylous mouse mutants
    • Masuya H, Sagai T, Wakana S, Moriwaki K, Shiroishi T (1995) A duplicated zone of polarizing activity in polydactylous mouse mutants. Genes Dev 9, 1645-1653
    • (1995) Genes Dev , vol.9 , pp. 1645-1653
    • Masuya, H.1    Sagai, T.2    Wakana, S.3    Moriwaki, K.4    Shiroishi, T.5
  • 15
    • 0002861792 scopus 로고
    • Wild mouse from a geneticist's viewpoint
    • K Moriwaki, T Shiroishi, H Yonekawa, eds (Tokyo/Basel:Japan Scientific Society Press/Karger)
    • Moriwaki K (1994) Wild mouse from a geneticist's viewpoint. In Genetics in Wild Mice, K Moriwaki, T Shiroishi, H Yonekawa, eds (Tokyo/Basel:Japan Scientific Society Press/Karger), pp xii-xxv.
    • (1994) Genetics in Wild Mice
    • Moriwaki, K.1
  • 17
    • 0021321231 scopus 로고
    • Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci
    • Novak EK, Hui SW, Swank RT (1984) Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood 63, 536-544
    • (1984) Blood , vol.63 , pp. 536-544
    • Novak, E.K.1    Hui, S.W.2    Swank, R.T.3
  • 18
    • 0028042889 scopus 로고
    • Molecular map of chromosome 19 including three genes affecting bleeding time: ep, ru, and bm
    • O'Brien EP, Novak EK, Keller SA, Poirier C, Guenet JL, Swank RT (1994) Molecular map of chromosome 19 including three genes affecting bleeding time: ep, ru, and bm. Mamm Genome 5, 356-360
    • (1994) Mamm Genome , vol.5 , pp. 356-360
    • O'Brien, E.P.1    Novak, E.K.2    Keller, S.A.3    Poirier, C.4    Guenet, J.L.5    Swank, R.T.6
  • 19
    • 0029102456 scopus 로고
    • Molecular markers near two mouse chromosome 13 genes, muted and pearl, which cause platelet storage pool deficiency (SPD)
    • O'Brien EP, Novak EK, Zhen L, Manly KF, Stephenson D and Swank RT (1995) Molecular markers near two mouse chromosome 13 genes, muted and pearl, which cause platelet storage pool deficiency (SPD). Mamm Genome 6, 19-24
    • (1995) Mamm Genome , vol.6 , pp. 19-24
    • O'Brien, E.P.1    Novak, E.K.2    Zhen, L.3    Manly, K.F.4    Stephenson, D.5    Swank, R.T.6
  • 22
    • 0030292366 scopus 로고    scopus 로고
    • Protein trafficking violations
    • Ramsay M (1996) Protein trafficking violations. Nature Genet 14, 242-245
    • (1996) Nature Genet , vol.14 , pp. 242-245
    • Ramsay, M.1
  • 25
    • 0020367272 scopus 로고
    • A new wild-derived H-2 haplotype enhancing K-IA recombination
    • Shiroishi T, Sagai, T, Moriwaki K (1982) A new wild-derived H-2 haplotype enhancing K-IA recombination. Nature 300, 370-372
    • (1982) Nature , vol.300 , pp. 370-372
    • Shiroishi, T.1    Sagai, T.2    Moriwaki, K.3
  • 26
    • 0025974980 scopus 로고
    • Genetic control of sex-dependent meiotic recombination in the major histocompatibility complex of the mouse
    • Shiroishi T, Sagai T, Hanzawa N, Gotoh H, Moriwaki K (1991). Genetic control of sex-dependent meiotic recombination in the major histocompatibility complex of the mouse. EMBO J 10, 681-686
    • (1991) EMBO J , vol.10 , pp. 681-686
    • Shiroishi, T.1    Sagai, T.2    Hanzawa, N.3    Gotoh, H.4    Moriwaki, K.5
  • 27
    • 0015060073 scopus 로고
    • Studies of platelets in a variant of the Hermansky-Pudlak syndrome
    • White JG, Edson JR, Desnick SJ, Witkop CJ Jr (1971) Studies of platelets in a variant of the Hermansky-Pudlak syndrome. Am J Pathol 63, 319-332
    • (1971) Am J Pathol , vol.63 , pp. 319-332
    • White, J.G.1    Edson, J.R.2    Desnick, S.J.3    Witkop Jr., C.J.4
  • 29
    • 0020068187 scopus 로고
    • Transposable elements controlling genetic instabilities in mammals
    • Whitney III JB, Lamoreux ML (1982) Transposable elements controlling genetic instabilities in mammals. J Hered 73, 12-18
    • (1982) J Hered , vol.73 , pp. 12-18
    • Whitney III, J.B.1    Lamoreux, M.L.2
  • 30
    • 0019866386 scopus 로고
    • The origin and fate of large dense bodies in beige mouse fibroblasts
    • Willingham MC, Spicer SS, Vincent RA Jr (1981) The origin and fate of large dense bodies in beige mouse fibroblasts. Exp Cell Res 136, 157-168
    • (1981) Exp Cell Res , vol.136 , pp. 157-168
    • Willingham, M.C.1    Spicer, S.S.2    Vincent Jr., R.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.