메뉴 건너뛰기




Volumn 27, Issue 1, 2005, Pages 53-55

Association of chronic symptomatic neutropenia with the triple A syndrome

Author keywords

Chronic neutropenia; Cyclic neutropenia; Kostmann disease; Triple A syndrome

Indexed keywords

ALDOSTERONE; CORTICOTROPIN; ELECTROLYTE; HYDROCORTISONE; NUCLEOPORIN; PROTEIN ALADIN; UNCLASSIFIED DRUG;

EID: 12944265176     PISSN: 10774114     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mph.0000151802.34101.ad     Document Type: Article
Times cited : (8)

References (12)
  • 1
    • 0017845477 scopus 로고
    • Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production
    • Allgrove J, Clayden GS, Grant DB, et al. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet. 1978;1:1284-1286.
    • (1978) Lancet , vol.1 , pp. 1284-1286
    • Allgrove, J.1    Clayden, G.S.2    Grant, D.B.3
  • 2
    • 0036896407 scopus 로고    scopus 로고
    • Clinical and genetic characterization of families with triple A (Allgrove) syndrome
    • Houlden H, Smith S, de Carvalho M, et al. Clinical and genetic characterization of families with triple A (Allgrove) syndrome. Brain. 2002;125:2681-2690.
    • (2002) Brain , vol.125 , pp. 2681-2690
    • Houlden, H.1    Smith, S.2    De Carvalho, M.3
  • 3
    • 0029827345 scopus 로고    scopus 로고
    • Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster
    • Weber A, Wienker TF, Jung M, et al. Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. Hum Mol Genet. 1996;5:2061-2066.
    • (1996) Hum Mol Genet , vol.5 , pp. 2061-2066
    • Weber, A.1    Wienker, T.F.2    Jung, M.3
  • 4
    • 0033763096 scopus 로고    scopus 로고
    • Mutant WD-repeat protein in triple A syndrome
    • Tullio-Pelet A, Salomon R, Hadj-Rabia S, et al. Mutant WD-repeat protein in triple A syndrome. Nat Genet. 2000;26:332-335.
    • (2000) Nat Genet , vol.26 , pp. 332-335
    • Tullio-Pelet, A.1    Salomon, R.2    Hadj-Rabia, S.3
  • 5
    • 0042131835 scopus 로고    scopus 로고
    • Triple A syndrome: Genotype-phenotype assessment
    • Prpic I, Huebner A, Handschung K, et al. Triple A syndrome: genotype-phenotype assessment. Clin Genet. 2003;63:415-417.
    • (2003) Clin Genet , vol.63 , pp. 415-417
    • Prpic, I.1    Huebner, A.2    Handschung, K.3
  • 6
    • 0037947770 scopus 로고    scopus 로고
    • The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome
    • Cronshaw JM, Matunis MJ. The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome. Proc Natl Acad Sci USA. 2003;100:5823-5827.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 5823-5827
    • Cronshaw, J.M.1    Matunis, M.J.2
  • 7
    • 0036390103 scopus 로고    scopus 로고
    • Clinical symptoms and neutropenia: The balance of neutrophil development, functional activity, and cell death
    • Kuijpers TW. Clinical symptoms and neutropenia: the balance of neutrophil development, functional activity, and cell death. Eur J Pediatr. 2002;161:s75-s82.
    • (2002) Eur J Pediatr , vol.161
    • Kuijpers, T.W.1
  • 8
    • 2342644211 scopus 로고    scopus 로고
    • The role of apoptosis in the pathophysiology of chronic neutropenias associated with bone marrow failure
    • Papadaki HA, Eliopoulos GD. The role of apoptosis in the pathophysiology of chronic neutropenias associated with bone marrow failure. Cell Cycle. 2003;2:447-451.
    • (2003) Cell Cycle , vol.2 , pp. 447-451
    • Papadaki, H.A.1    Eliopoulos, G.D.2
  • 9
    • 0036899917 scopus 로고    scopus 로고
    • Mutant elastase in pathogenesis of cyclic and severe congenital neutropenia
    • Aprikyan AAG, Liles WC, Boxer LA, et al. Mutant elastase in pathogenesis of cyclic and severe congenital neutropenia. J Pediatr Hematol Oncol. 2002;24:784-786.
    • (2002) J Pediatr Hematol Oncol , vol.24 , pp. 784-786
    • Aprikyan, A.A.G.1    Liles, W.C.2    Boxer, L.A.3
  • 10
    • 0037215566 scopus 로고    scopus 로고
    • Role of neutrophil elastase in bone marrow failure syndromes: Molecular genetic revival of the chalone hypothesis
    • Horwitz M, Benson KF, Duan Z, et al. Role of neutrophil elastase in bone marrow failure syndromes: molecular genetic revival of the chalone hypothesis. Curr Opin Hematol. 2003;10:49-54.
    • (2003) Curr Opin Hematol , vol.10 , pp. 49-54
    • Horwitz, M.1    Benson, K.F.2    Duan, Z.3
  • 11
    • 0037008997 scopus 로고    scopus 로고
    • Proteomic analysis of the mammalian nuclear pore complex
    • Cronshaw JM, Krutchinsky AN, Zhang W, et al. Proteomic analysis of the mammalian nuclear pore complex. J Cell Biol. 2002;158:915-927.
    • (2002) J Cell Biol , vol.158 , pp. 915-927
    • Cronshaw, J.M.1    Krutchinsky, A.N.2    Zhang, W.3
  • 12
    • 36348978046 scopus 로고    scopus 로고
    • The nuclear pore complex: Disease associations and functional correlations
    • Cronshaw JM, Matunis MJ. The nuclear pore complex: disease associations and functional correlations. Trends Endocrinol Metab. 2004;15:34-39.
    • (2004) Trends Endocrinol Metab , vol.15 , pp. 34-39
    • Cronshaw, J.M.1    Matunis, M.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.