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Volumn 40, Issue 3, 2008, Pages 262-270

X-linked hypogammaglobulinemia and isolated growth hormone deficiency: An update

Author keywords

B cells; Bruton's tyrosine kinase; Btk; Growth hormone; Hypogammaglobulinemia; MEF; Myeloid elf 1 like factor; X chromosome

Indexed keywords

BRUTON TYROSINE KINASE; IMMUNOGLOBULIN; TRANSCRIPTION FACTOR ELF 1;

EID: 46149090174     PISSN: 0257277X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12026-007-0028-9     Document Type: Review
Times cited : (25)

References (31)
  • 2
    • 0025812918 scopus 로고
    • Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency
    • Conley ME, Burks AW, Herrod HG, Puck JM. Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency. J Pediatr 1991;119:392-7.
    • (1991) J Pediatr , vol.119 , pp. 392-7
    • Conley, M.E.1    Burks, A.W.2    Herrod, H.G.3    Puck, J.M.4
  • 3
    • 0028306716 scopus 로고
    • An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency
    • Duriez B, Duquesnoy P, Dastot F, Bougneres P, Amselem S, Goossens M. An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. FEBS Lett 1994;346:165-170.
    • (1994) FEBS Lett , vol.346 , pp. 165-170
    • Duriez, B.1    Duquesnoy, P.2    Dastot, F.3    Bougneres, P.4    Amselem, S.5    Goossens, M.6
  • 5
    • 0027441332 scopus 로고
    • The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
    • Vetrie D, Vorechovsky I, Sideras P, Holland J, Davies A, Flinter F, et al. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature 1993;361:226-233.
    • (1993) Nature , vol.361 , pp. 226-233
    • Vetrie, D.1    Vorechovsky, I.2    Sideras, P.3    Holland, J.4    Davies, A.5    Flinter, F.6
  • 6
    • 0024380280 scopus 로고
    • Lymphocyte analysis in a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency after development of echovirus dermatomyositis and meningoencephalitis
    • Wagner DK, Marti GE, Jaffe ES, Straus SE, Nelson DL, Fleisher TA. Lymphocyte analysis in a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency after development of echovirus dermatomyositis and meningoencephalitis. Int Arch Allergy Appl Immunol 1989;89:143-8.
    • (1989) Int Arch Allergy Appl Immunol , vol.89 , pp. 143-8
    • Wagner, D.K.1    Marti, G.E.2    Jaffe, E.S.3    Straus, S.E.4    Nelson, D.L.5    Fleisher, T.A.6
  • 8
    • 0021812632 scopus 로고
    • X-linked agammaglobulinemia: An analysis of 96 patients
    • Lederman HM, Winkelstein JA. X-linked agammaglobulinemia: an analysis of 96 patients. Medicine (Baltimore) 1985;64:145-156.
    • (1985) Medicine (Baltimore) , vol.64 , pp. 145-156
    • Lederman, H.M.1    Winkelstein, J.A.2
  • 10
  • 14
    • 0023428827 scopus 로고
    • Chronic asymptomatic Campylobacter bacteremia in a boy with X-linked hypogammaglobulinemia
    • Chusid MJ, Coleman CM, Dunne WM. Chronic asymptomatic Campylobacter bacteremia in a boy with X-linked hypogammaglobulinemia. Pediatr Infect Dis J 1987;6:943-4.
    • (1987) Pediatr Infect Dis J , vol.6 , pp. 943-4
    • Chusid, M.J.1    Coleman, C.M.2    Dunne, W.M.3
  • 16
    • 0029024053 scopus 로고
    • Molecular genetic analysis of X-linked hypogammaglobulinemia and isolated growth hormone deficiency
    • Stewart DM, Notarangelo LD, Kurman CC, Staudt LM, Nelson DL. Molecular genetic analysis of X-linked hypogammaglobulinemia and isolated growth hormone deficiency. J Immunol 1995;155:2770-4.
    • (1995) J Immunol , vol.155 , pp. 2770-4
    • Stewart, D.M.1    Notarangelo, L.D.2    Kurman, C.C.3    Staudt, L.M.4    Nelson, D.L.5
  • 17
    • 0346305718 scopus 로고
    • Restriction fragment polymorphism analysis of patients with X-linked agammaglobulinemia and isolated growth hormone deficiency
    • Albertini A, Paoletti R, Reisfeld RA, editors. New York: Raven Press;
    • Notarangelo LD, Wagner DK, Schwieterman WD, Camerino G, Fleisher TA, Nelson DL. Restriction fragment polymorphism analysis of patients with X-linked agammaglobulinemia and isolated growth hormone deficiency. In: Albertini A, Paoletti R, Reisfeld RA, editors. Molecular probes: technology and medical applications. New York: Raven Press; 1989. p. 143.
    • (1989) Molecular Probes: Technology and Medical Applications , pp. 143
    • Notarangelo, L.D.1    Wagner, D.K.2    Schwieterman, W.D.3    Camerino, G.4    Fleisher, T.A.5    Nelson, D.L.6
  • 18
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996;380:152-4.
    • (1996) Nature , vol.380 , pp. 152-4
    • Dib, C.1    Faure, S.2    Fizames, C.3    Samson, D.4    Drouot, N.5    Vignal, A.6
  • 19
    • 9144266311 scopus 로고    scopus 로고
    • A public resource for sequence validation and assay development for genetic variation in candidate genes
    • Packer BR, Yeager M, Staats B, Welch R, Crenshaw A, Kiley M, et al. A public resource for sequence validation and assay development for genetic variation in candidate genes. Nuc. Acids Res 2004;32:D528.
    • (2004) Nuc. Acids Res , vol.32 , pp. 528
    • Packer, B.R.1    Yeager, M.2    Staats, B.3    Welch, R.4    Crenshaw, A.5    Kiley, M.6
  • 20
    • 0035162594 scopus 로고    scopus 로고
    • RefSeq and LocusLink: NCBI gene-centered resources
    • PruittKDaM DR. RefSeq and LocusLink: NCBI gene-centered resources. Nucleic Acids Res. 2001;29:137.
    • (2001) Nucleic Acids Res , vol.29 , pp. 137
    • Pruittkdam, D.R.1
  • 21
    • 0034638634 scopus 로고    scopus 로고
    • Characterization of the CIN85 adaptor protein and identification of components involved in CIN85 complexes
    • Watanabe S, Take H, Takeda K, Yu ZX, Iwata N, Kajigaya S. Characterization of the CIN85 adaptor protein and identification of components involved in CIN85 complexes. Biochem Biophys Res Commun 2000;278:167-174.
    • (2000) Biochem Biophys Res Commun , vol.278 , pp. 167-174
    • Watanabe, S.1    Take, H.2    Takeda, K.3    Yu, Z.X.4    Iwata, N.5    Kajigaya, S.6
  • 22
    • 0029860814 scopus 로고    scopus 로고
    • MEF, a novel transcription factor with an Elf-1 like DNA binding domain but distinct transcriptional activating properties
    • Miyazaki Y, Sun X, Uchida H, Zhang J, Nimer S. MEF, a novel transcription factor with an Elf-1 like DNA binding domain but distinct transcriptional activating properties. Oncogene 1996;13:1721-9.
    • (1996) Oncogene , vol.13 , pp. 1721-9
    • Miyazaki, Y.1    Sun, X.2    Uchida, H.3    Zhang, J.4    Nimer, S.5
  • 23
    • 0025190325 scopus 로고
    • Confirmation of X-linked hypogammaglobulinemia with isolated growth hormone deficiency as a disease entity
    • Sitz KV, Burks AW, Williams LW, Kemp SF, Steele RW. Confirmation of X-linked hypogammaglobulinemia with isolated growth hormone deficiency as a disease entity. J Pediatr 1990;116:292-4.
    • (1990) J Pediatr , vol.116 , pp. 292-4
    • Sitz, K.V.1    Burks, A.W.2    Williams, L.W.3    Kemp, S.F.4    Steele, R.W.5
  • 24
    • 0031627321 scopus 로고    scopus 로고
    • A novel single basepair insertion in exon 6 of the Bruton's tyrosine kinase (Btk) gene from a Japanese X-linked agammaglobulinemia patient with growth hormone insufficiency
    • Abo K, Nishio H, Lee MJ, Tsuzuki D, Takahashi T, Yoshida S, et al. A novel single basepair insertion in exon 6 of the Bruton's tyrosine kinase (Btk) gene from a Japanese X-linked agammaglobulinemia patient with growth hormone insufficiency. Hum Mutat 1998;11:336.
    • (1998) Hum Mutat , vol.11 , pp. 336
    • Abo, K.1    Nishio, H.2    Lee, M.J.3    Tsuzuki, D.4    Takahashi, T.5    Yoshida, S.6
  • 26
    • 18644379642 scopus 로고    scopus 로고
    • The ETS protein MEF plays a critical role in perforin gene expression and the development of natural killer and NK-T cells
    • Lacorazza HD, Miyazaki Y, Di Cristofano A, Deblasio A, Hedvat C, Zhang J, et al. The ETS protein MEF plays a critical role in perforin gene expression and the development of natural killer and NK-T cells. Immunity 2002;17:437-449.
    • (2002) Immunity , vol.17 , pp. 437-449
    • Lacorazza, H.D.1    Miyazaki, Y.2    Di Cristofano, A.3    Deblasio, A.4    Hedvat, C.5    Zhang, J.6
  • 27
    • 0037112510 scopus 로고    scopus 로고
    • The ETS transcription factor MEF is a candidate tumor suppressor gene on the X chromosome
    • Seki Y, Suico MA, Uto A, Hisatsune A, Shuto T, Isohama Y, et al. The ETS transcription factor MEF is a candidate tumor suppressor gene on the X chromosome. Cancer Res 2002;62:6579-6586.
    • (2002) Cancer Res , vol.62 , pp. 6579-6586
    • Seki, Y.1    Suico, M.A.2    Uto, A.3    Hisatsune, A.4    Shuto, T.5    Isohama, Y.6
  • 28
    • 0032033805 scopus 로고    scopus 로고
    • Physical linkage of the human growth hormone gene cluster and the CD79b (Ig beta/B29) gene
    • Bennani-Baiti IM, Cooke NE, Liebhaber SA. Physical linkage of the human growth hormone gene cluster and the CD79b (Ig beta/B29) gene. Genomics 1998;48:258-264.
    • (1998) Genomics , vol.48 , pp. 258-264
    • Bennani-Baiti, I.M.1    Cooke, N.E.2    Liebhaber, S.A.3
  • 29
    • 0034677895 scopus 로고    scopus 로고
    • The human growth hormone gene cluster locus control region supports position-independent pituitary- and placenta-specific expression in the transgenic mouse
    • Su Y, Liebhaber SA, Cooke NE. The human growth hormone gene cluster locus control region supports position-independent pituitary- and placenta-specific expression in the transgenic mouse. J Biol Chem 2000;275:7902-9.
    • (2000) J Biol Chem , vol.275 , pp. 7902-9
    • Su, Y.1    Liebhaber, S.A.2    Cooke, N.E.3
  • 30
    • 0029913115 scopus 로고    scopus 로고
    • Regulation of an early developmental checkpoint in the B cell pathway by Ig beta
    • Gong S, Nussenzweig MC. Regulation of an early developmental checkpoint in the B cell pathway by Ig beta. Science 1996;272:411-4.
    • (1996) Science , vol.272 , pp. 411-4
    • Gong, S.1    Nussenzweig, M.C.2
  • 31
    • 0035021071 scopus 로고    scopus 로고
    • Bruton's tyrosine kinase is required for signaling the CD79b-mediated pro-B to pre-B cell transition
    • Kouro T, Nagata K, Takaki S, Nisitani S, Hirano M, Wahl MI, et al. Bruton's tyrosine kinase is required for signaling the CD79b-mediated pro-B to pre-B cell transition. Int Immunol 2001;13:485-493.
    • (2001) Int Immunol , vol.13 , pp. 485-493
    • Kouro, T.1    Nagata, K.2    Takaki, S.3    Nisitani, S.4    Hirano, M.5    Wahl, M.I.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.