SH2base
   Database for pathogenic SH2 domain variations

 

SH2base mutation publications

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Search PubMed latest citations for SH2 mutations

    2008

  • Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia.
    Paulsson K, Horvat A, Strömbeck B, Nilsson F, Heldrup J, Behrendtz M, Forestier E, Andersson A, Fioretos T, Johansson B
    Genes Chromosomes Cancer 2008(1): 26-33 [PubMed abstract].

    2007

  • Characterization of acute myeloid leukemia with PTPN11 mutation: the mutation is closely associated with NPM1 mutation but inversely related to FLT3/ITD.
    Hou HA, Chou WC, Lin LI, Chen CY, Tang JL, Tseng MH, Huang CF, Chiou RJ, Lee FY, Liu MC, Tien HF
    Leukemia 2007(): [PubMed abstract].

  • Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11.
    Flotho C, Steinemann D, Mullighan CG, Neale G, Mayer K, Kratz CP, Schlegelberger B, Downing JR, Niemeyer CM
    Oncogene 2007(39): 5816-21 [PubMed abstract].

  • Mutations of the PTPN11 gene in therapy-related MDS and AML with rare balanced chromosome translocations.
    Christiansen DH, Desta F, Andersen MK, Pedersen-Bjergaard J
    Genes Chromosomes Cancer 2007(6): 517-21 [PubMed abstract].

  • Simultaneous manifestation of fulminant infectious mononucleosis with haemophagocytic syndrome and B-cell lymphoma in X-linked lymphoproliferative disease.
    Hügle B, Astigarraga I, Henter JI, Porwit-MacDonald A, Meindl A, Schuster V
    Eur J Pediatr 2007(6): 589-93 [PubMed abstract].

  • Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome.
    Karow A, Steinemann D, Göhring G, Hasle H, Greiner J, Harila-Saari A, Flotho C, Zenker M, Schlegelberger B, Niemeyer CM, Kratz CP
    Leukemia 2007(6): 1303-5 [PubMed abstract].

  • Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations.
    Becker K, Hughes H, Howard K, Armstrong M, Roberts D, Lazda EJ, Short JP, Shaw A, Patton MA, Tartaglia M
    Am J Med Genet A 2007(11): 1249-52 [PubMed abstract].

    2006

  • Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing.
    Chan KW, Chen T, Jiang L, Fok SF, Lee TL, Lee BW, Yang X, Lau YL
    Int J Immunogenet 2006(3): 205-9 [PubMed abstract].

  • Acquisition of JAK2, PTPN11, and RAS mutations during disease progression in primary myelodysplastic syndrome.
    Chen CY, Lin LI, Tang JL, Tsay W, Chang HH, Yeh YC, Huang CF, Chiou RJ, Yao M, Ko BS, Chen YC, Lin KH, Lin DT, Tien HF
    Leukemia 2006(6): 1155-8 [PubMed abstract].

  • Acute lymphoblastic leukaemia in Noonan syndrome.
    Roti G, La Starza R, Ballanti S, Crescenzi B, Romoli S, Foá R, Tartaglia M, Aversa F, Fabrizio Martelli M, Mecucci C
    Br J Haematol 2006(4): 448-50 [PubMed abstract].

  • Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies.
    Chen Y, Takita J, Hiwatari M, Igarashi T, Hanada R, Kikuchi A, Hongo T, Taki T, Ogasawara M, Shimada A, Hayashi Y
    Genes Chromosomes Cancer 2006(6): 583-91 [PubMed abstract].

  • X-linked lymphoproliferative disease associated with hypogammaglobulinemia and growth-hormone deficiency.
    Alangari A, Abobaker A, Kanegane H, Miyawaki T
    Eur J Pediatr 2006(3): 165-7 [PubMed abstract].

  • Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP.
    Hare NJ, Ma CS, Alvaro F, Nichols KE, Tangye SG
    Int Immunol 2006(7): 1055-65 [PubMed abstract].

  • PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia.
    Yamamoto T, Isomura M, Xu Y, Liang J, Yagasaki H, Kamachi Y, Kudo K, Kiyoi H, Naoe T, Kojma S
    Leuk Res 2006(9): 1085-9 [PubMed abstract].

    2005

  • The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
    Kratz CP, Niemeyer CM, Castleberry RP, Cetin M, Bergsträsser E, Emanuel PD, Hasle H, Kardos G, Klein C, Kojima S, Stary J, Trebo M, Zecca M, Gelb BD, Tartaglia M, Loh ML
    Blood 2005(6): 2183-5 [PubMed abstract].

  • [Gene diagnosis of X-linked agammaglobulinemia]
    Wang XC, Wang Y, Kanegane H, Toshio M, Yu YH
    Zhonghua Er Ke Za Zhi 2005(6): 449-52 [PubMed abstract].

  • Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease.
    Erdõs M, Uzvölgyi E, Nemes Z, Török O, Rákóczi E, Went-Sümegi N, Sümegi J, Maródi L
    Hum Mutat 2005(5): 506 [PubMed abstract].

  • Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members.
    Tabata Y, Villanueva J, Lee SM, Zhang K, Kanegane H, Miyawaki T, Sumegi J, Filipovich AH
    Blood 2005(8): 3066-71 [PubMed abstract].

  • Genetic analysis of patients with defects in early B-cell development.
    Conley ME, Broides A, Hernandez-Trujillo V, Howard V, Kanegane H, Miyawaki T, Shurtleff SA
    Immunol Rev 2005(): 216-34 [PubMed abstract].

    2004

  • Genotype-phenotype correlations in Noonan syndrome.
    Zenker M, Buheitel G, Rauch R, Koenig R, Bosse K, Kress W, Tietze HU, Doerr HG, Hofbeck M, Singer H, Reis A, Rauch A
    J Pediatr 2004(3): 368-74 [PubMed abstract].

  • Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
    Loh ML, Vattikuti S, Schubbert S, Reynolds MG, Carlson E, Lieuw KH, Cheng JW, Lee CM, Stokoe D, Bonifas JM, Curtiss NP, Gotlib J, Meshinchi S, Le Beau MM, Emanuel PD, Shannon KM
    Blood 2004(6): 2325-31 [PubMed abstract].

  • Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA).
    Velickovic M, Prasad ML, Weston SA, Benson EM
    Hum Mutat 2004(4): 398-9 [PubMed abstract].

  • BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia.
    Fiorini M, Franceschini R, Soresina A, Schumacher RF, Ugazio AG, Rossi P, Plebani A, Notarangelo LD
    Hum Mutat 2004(3): 286 [PubMed abstract].

  • Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia.
    Tartaglia M, Martinelli S, Cazzaniga G, Cordeddu V, Iavarone I, Spinelli M, Palmi C, Carta C, Pession A, Aricò M, Masera G, Basso G, Sorcini M, Gelb BD, Biondi A
    Blood 2004(2): 307-13 [PubMed abstract].

    2003

  • Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients.
    Jo EK, Wang Y, Kanegane H, Futatani T, Song CH, Park JK, Kim JS, Kim DS, Ahn KM, Lee SI, Park HJ, Hahn YS, Lee JH, Miyawaki T
    J Hum Genet 2003(6): 322-6 [PubMed abstract].

  • PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
    Schollen E, Matthijs G, Gewillig M, Fryns JP, Legius E
    Eur J Hum Genet 2003(1): 85-8 [PubMed abstract].

  • Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
    Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, Hählen K, Hasle H, Licht JD, Gelb BD
    Nat Genet 2003(2): 148-50 [PubMed abstract].

  • Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.
    Dupuis S, Jouanguy E, Al-Hajjar S, Fieschi C, Al-Mohsen IZ, Al-Jumaah S, Yang K, Chapgier A, Eidenschenk C, Eid P, Al Ghonaium A, Tufenkeji H, Frayha H, Al-Gazlan S, Al-Rayes H, Schreiber RD, Gresser I, Casanova JL
    Nat Genet 2003(3): 388-91 [PubMed abstract].

  • Growth hormone insensitivity associated with a STAT5b mutation.
    Kofoed EM, Hwa V, Little B, Woods KA, Buckway CK, Tsubaki J, Pratt KL, Bezrodnik L, Jasper H, Tepper A, Heinrich JJ, Rosenfeld RG
    N Engl J Med 2003(12): 1139-47 [PubMed abstract].

  • Bruton tyrosine kinase gene mutations in Argentina.
    Danielian S, El-Hakeh J, Basílico G, Oleastro M, Rosenzweig S, Feldman G, Berozdnik L, Galicchio M, Gallardo A, Giraudi V, Liberatore D, Rivas EM, Zelazko M
    Hum Mutat 2003(4): 451 [PubMed abstract].

  • Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
    Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, Wieczorek D, Hinkel GK, Tinschert S, Hoeltzenbein M, Ropers HH, Kalscheuer VM
    Eur J Hum Genet 2003(2): 201-6 [PubMed abstract].

  • Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
    Sarkozy A, Conti E, Seripa D, Digilio MC, Grifone N, Tandoi C, Fazio VM, Di Ciommo V, Marino B, Pizzuti A, Dallapiccola B
    J Med Genet 2003(9): 704-8 [PubMed abstract].

    2002

  • PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
    Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD
    Am J Hum Genet 2002(6): 1555-63 [PubMed abstract].

  • Analysis of SH2D1A mutations in patients with severe Epstein-Barr virus infections, Burkitt's lymphoma, and Hodgkin's lymphoma.
    Parolini O, Kagerbauer B, Simonitsch-Klupp I, Ambros P, Jaeger U, Mann G, Haas OA, Morra M, Gadner H, Terhorst C, Knapp W, Holter W
    Ann Hematol 2002(8): 441-7 [PubMed abstract].

  • PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
    Kosaki K, Suzuki T, Muroya K, Hasegawa T, Sato S, Matsuo N, Kosaki R, Nagai T, Hasegawa Y, Ogata T
    J Clin Endocrinol Metab 2002(8): 3529-33 [PubMed abstract].

  • Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia.
    Tani SM, Wang Y, Kanegane H, Futatani T, Pinto J, Vilela MM, Miyawaki T
    Hum Mutat 2002(3): 235-6 [PubMed abstract].

  • PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
    Maheshwari M, Belmont J, Fernbach S, Ho T, Molinari L, Yakub I, Yu F, Combes A, Towbin J, Craigen WJ, Gibbs R
    Hum Mutat 2002(4): 298-304 [PubMed abstract].

  • Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection.
    Shinozaki K, Kanegane H, Matsukura H, Sumazaki R, Tsuchida M, Makita M, Kimoto Y, Kanai R, Tsumura K, Kondoh T, Moriuchi H, Miyawaki T
    Int Immunol 2002(10): 1215-23 [PubMed abstract].

    2001

  • Molecular analysis of Bruton's tyrosine kinase gene in Spain.
    Rodríguez MC, Granados EL, Cerdán AF, Casariego GF
    Hum Mutat 2001(1): 84 [PubMed abstract].

  • Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
    Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD
    Nat Genet 2001(4): 465-8 [PubMed abstract].

  • Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis.
    Kanegane H, Futatani T, Wang Y, Nomura K, Shinozaki K, Matsukura H, Kubota T, Tsukada S, Miyawaki T
    J Allergy Clin Immunol 2001(6): 1012-20 [PubMed abstract].

  • SH2D1A mutations in Japanese males with severe Epstein-Barr virus--associated illnesses.
    Sumazaki R, Kanegane H, Osaki M, Fukushima T, Tsuchida M, Matsukura H, Shinozaki K, Kimura H, Matsui A, Miyawaki T
    Blood 2001(4): 1268-70 [PubMed abstract].

  • Lymphocytic vasculitis in X-linked lymphoproliferative disease.
    Dutz JP, Benoit L, Wang X, Demetrick DJ, Junker A, de Sa D, Tan R
    Blood 2001(1): 95-100 [PubMed abstract].

  • Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene.
    Arico M, Imashuku S, Clementi R, Hibi S, Teramura T, Danesino C, Haber DA, Nichols KE
    Blood 2001(4): 1131-3 [PubMed abstract].

  • Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome.
    Morra M, Silander O, Calpe S, Choi M, Oettgen H, Myers L, Etzioni A, Buckley R, Terhorst C
    Blood 2001(5): 1321-5 [PubMed abstract].

  • Characterization of mutations, including a novel regulatory defect in the first intron, in Bruton's tyrosine kinase gene from seven Korean X-linked agammaglobulinemia families.
    Jo EK, Kanegane H, Nonoyama S, Tsukada S, Lee JH, Lim K, Shong M, Song CH, Kim HJ, Park JK, Miyawaki T
    J Immunol 2001(7): 4038-45 [PubMed abstract].

  • Analysis of Btk mutations in patients with X-linked agammaglobulinaemia (XLA) and determination of carrier status in normal female relatives: a nationwide study of Btk deficiency in Greece.
    Speletas M, Kanariou M, Kanakoudi-Tsakalidou F, Papadopoulou-Alataki E, Arvanitidis K, Pardali E, Constantopoulos A, Kartalis G, Vihinen M, Sideras P, Ritis K
    Scand J Immunol 2001(3): 321-7 [PubMed abstract].

    2000

  • Natural variants of human p85 alpha phosphoinositide 3-kinase in severe insulin resistance: a novel variant with impaired insulin-stimulated lipid kinase activity.
    Baynes KC, Beeton CA, Panayotou G, Stein R, Soos M, Hansen T, Simpson H, O'Rahilly S, Shepherd PR, Whitehead JP
    Diabetologia 2000(3): 321-31 [PubMed abstract].

  • Six X-linked agammaglobulinemia-causing missense mutations in the Src homology 2 domain of Bruton's tyrosine kinase: phosphotyrosine-binding and circular dichroism analysis.
    Mattsson PT, Lappalainen I, Bäckesjö CM, Brockmann E, Laurén S, Vihinen M, Smith CI
    J Immunol 2000(8): 4170-7 [PubMed abstract].

  • Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease.
    Sumegi J, Huang D, Lanyi A, Davis JD, Seemayer TA, Maeda A, Klein G, Seri M, Wakiguchi H, Purtilo DT, Gross TG
    Blood 2000(9): 3118-25 [PubMed abstract].

  • Point mutation in intron 11 of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia.
    Shinomiya N, Kanegane H, Watanabe A, Yamaguchi Y, Futatani T, Miyawaki T
    Pediatr Int 2000(6): 689-92 [PubMed abstract].

  • X-chromosome inactivation and mutation pattern in the Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinemia. Italian XLA Collaborative Group.
    Moschese V, Orlandi P, Plebani A, Arvanitidis K, Fiorini M, Speletas M, Mella P, Ritis K, Sideras P, Finocchi A, Livadiotti S, Rossi P
    Mol Med 2000(2): 104-13 [PubMed abstract].

  • Diagnosis of X-linked lymphoproliferative disease by analysis of SLAM-associated protein expression.
    Gilmour KC, Cranston T, Jones A, Davies EG, Goldblatt D, Thrasher A, Kinnon C, Nichols KE, Gaspar HB
    Eur J Immunol 2000(6): 1691-7 [PubMed abstract].

  • Large deletion of the X-linked lymphoproliferative disease gene detected by fluorescence in situ hybridization.
    Honda K, Kanegane H, Eguchi M, Kimura H, Morishima T, Masaki K, Tosato G, Miyawaki T, Ishii E
    Am J Hematol 2000(2): 128-32 [PubMed abstract].

  • Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway.
    Nomura K, Kanegane H, Karasuyama H, Tsukada S, Agematsu K, Murakami G, Sakazume S, Sako M, Tanaka R, Kuniya Y, Komeno T, Ishihara S, Hayashi K, Kishimoto T, Miyawaki T
    Blood 2000(2): 610-7 [PubMed abstract].

  • Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia.
    Yip KL, Chan SY, Ip WK, Lau YL
    Hum Mutat 2000(4): 385 [PubMed abstract].

  • Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease.
    Lappalainen I, Giliani S, Franceschini R, Bonnefoy JY, Duckett C, Notarangelo LD, Vihinen M
    Biochem Biophys Res Commun 2000(1): 124-30 [PubMed abstract].

    1999

  • SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients.
    Yin L, Ferrand V, Lavoué MF, Hayoz D, Philippe N, Souillet G, Seri M, Giacchino R, Castagnola E, Hodgson S, Sylla BS, Romeo G
    Hum Genet 1999(5): 501-5 [PubMed abstract].

  • Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP).
    Brandau O, Schuster V, Weiss M, Hellebrand H, Fink FM, Kreczy A, Friedrich W, Strahm B, Niemeyer C, Belohradsky BH, Meindl A
    Hum Mol Genet 1999(13): 2407-13 [PubMed abstract].

  • Temperature-sensitive ZAP70 mutants degrading through a proteasome-independent pathway. Restoration of a kinase domain mutant by Cdc37.
    Matsuda S, Suzuki-Fujimoto T, Minowa A, Ueno H, Katamura K, Koyasu S
    J Biol Chem 1999(49): 34515-8 [PubMed abstract].

    1998

  • The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM.
    Sayos J, Wu C, Morra M, Wang N, Zhang X, Allen D, van Schaik S, Notarangelo L, Geha R, Roncarolo MG, Oettgen H, De Vries JE, Aversa G, Terhorst C
    Nature 1998(6701): 462-9 [PubMed abstract].

  • Deficient expression of Bruton's tyrosine kinase in monocytes from X-linked agammaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection.
    Futatani T, Miyawaki T, Tsukada S, Hashimoto S, Kunikata T, Arai S, Kurimoto M, Niida Y, Matsuoka H, Sakiyama Y, Iwata T, Tsuchiya S, Tatsuzawa O, Yoshizaki K, Kishimoto T
    Blood 1998(2): 595-602 [PubMed abstract].

  • Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome.
    Nichols KE, Harkin DP, Levitz S, Krainer M, Kolquist KA, Genovese C, Bernard A, Ferguson M, Zuo L, Snyder E, Buckler AJ, Wise C, Ashley J, Lovett M, Valentine MB, Look AT, Gerald W, Housman DE, Haber DA
    Proc Natl Acad Sci U S A 1998(23): 13765-70 [PubMed abstract].

  • Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.
    Coffey AJ, Brooksbank RA, Brandau O, Oohashi T, Howell GR, Bye JM, Cahn AP, Durham J, Heath P, Wray P, Pavitt R, Wilkinson J, Leversha M, Huckle E, Shaw-Smith CJ, Dunham A, Rhodes S, Schuster V, Porta G, Yin L, Serafini P, Sylla B, Zollo M, Franco B, Bolino A, Seri M, Lanyi A, Davis JR, Webster D, Harris A, Lenoir G, de St Basile G, Jones A, Behloradsky BH, Achatz H, Murken J, Fassler R, Sumegi J, Romeo G, Vaudin M, Ross MT, Meindl A, Bentley DR
    Nat Genet 1998(2): 129-35 [PubMed abstract].

  • Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.
    Holinski-Feder E, Weiss M, Brandau O, Jedele KB, Nore B, Bäckesjö CM, Vihinen M, Hubbard SR, Belohradsky BH, Smith CI, Meindl A
    Pediatrics 1998(2): 276-84 [PubMed abstract].

  • Mutations in btk in patients with presumed X-linked agammaglobulinemia.
    Conley ME, Mathias D, Treadaway J, Minegishi Y, Rohrer J
    Am J Hum Genet 1998(5): 1034-43 [PubMed abstract].

    1997

  • A yeast artificial chromosome (YAC) contig encompassing the critical region of the X-linked lymphoproliferative disease (XLP) locus.
    Lanyi A, Li B, Li S, Talmadge CB, Brichacek B, Davis JR, Kozel BA, Trask B, van den Engh G, Uzvolgyi E, Stanbridge EJ, Nelson DL, Chinault C, Heslop H, Gross TG, Seemayer TA, Klein G, Purtilo DT, Sumegi J
    Genomics 1997(1): 55-65 [PubMed abstract].

  • Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia.
    Brooimans RA, van den Berg AJ, Rijkers GT, Sanders LA, van Amstel JK, Tilanus MG, Grubben MJ, Zegers BJ
    J Med Genet 1997(6): 484-8 [PubMed abstract].

  • Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia.
    Vorechovský I, Luo L, Hertz JM, Frøland SS, Klemola T, Fiorini M, Quinti I, Paganelli R, Ozsahin H, Hammarström L, Webster AD, Smith CI
    Hum Mutat 1997(5): 418-25 [PubMed abstract].

    1996

  • Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan.
    Kobayashi S, Iwata T, Saito M, Iwasaki R, Matsumoto H, Naritaka S, Kono Y, Hayashi Y
    Hum Genet 1996(4): 424-30 [PubMed abstract].

  • Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia.
    Schuster V, Seidenspinner S, Kreth HW
    Am J Med Genet 1996(1): 318-22 [PubMed abstract].

  • Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan.
    Hashimoto S, Tsukada S, Matsushita M, Miyawaki T, Niida Y, Yachie A, Kobayashi S, Iwata T, Hayakawa H, Matsuoka H, Tsuge I, Yamadori T, Kunikata T, Arai S, Yoshizaki K, Taniguchi N, Kishimoto T
    Blood 1996(2): 561-73 [PubMed abstract].

    1995

  • Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot.
    Gaspar HB, Bradley LA, Katz F, Lovering RC, Roifman CM, Morgan G, Levinsky RJ, Kinnon C
    Hum Mol Genet 1995(4): 755-7 [PubMed abstract].

  • Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA).
    Jin H, Webster AD, Vihinen M, Sideras P, Vorechovsky I, Hammarstróm L, Bernatowska-Matuszkiewicz E, Smith CI, Bobrow M, Vetrie D
    Hum Mol Genet 1995(4): 693-700 [PubMed abstract].

  • The spectrum of mutations in Btk that cause X-linked agammaglobulinemia.
    Conley ME, Rohrer J
    Clin Immunol Immunopathol 1995(3 Pt 2): S192-7 [PubMed abstract].

  • DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.
    Vorechovský I, Vihinen M, de Saint Basile G, Honsová S, Hammarström L, Müller S, Nilsson L, Fischer A, Smith CI
    Hum Mol Genet 1995(1): 51-8 [PubMed abstract].

  • Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia.
    Hagemann TL, Rosen FS, Kwan SP
    Hum Mutat 1995(4): 296-302 [PubMed abstract].

  • A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia.
    Ohashi Y, Tsuchiya S, Konno T
    J Med Genet 1995(1): 77-8 [PubMed abstract].

    1994

  • Structural basis of SH2 domain mutations in X-linked agammaglobulinemia.
    Vihinen M, Nilsson L, Smith CI
    Biochem Biophys Res Commun 1994(2): 1270-7 [PubMed abstract].

  • Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase.
    Conley ME, Fitch-Hilgenberg ME, Cleveland JL, Parolini O, Rohrer J
    Hum Mol Genet 1994(10): 1751-6 [PubMed abstract].

  • Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia.
    Hagemann TL, Chen Y, Rosen FS, Kwan SP
    Hum Mol Genet 1994(10): 1743-9 [PubMed abstract].

  • Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.
    Zhu Q, Zhang M, Winkelstein J, Chen SH, Ochs HD
    Hum Mol Genet 1994(10): 1899-900 [PubMed abstract].

  • Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia.
    Saffran DC, Parolini O, Fitch-Hilgenberg ME, Rawlings DJ, Afar DE, Witte ON, Conley ME
    N Engl J Med 1994(21): 1488-91 [PubMed abstract].

  • Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia.
    Ohta Y, Haire RN, Litman RT, Fu SM, Nelson RP, Kratz J, Kornfeld SJ, de la Morena M, Good RA, Litman GW
    Proc Natl Acad Sci U S A 1994(19): 9062-6 [PubMed abstract].

  • Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis.
    Bradley LA, Sweatman AK, Lovering RC, Jones AM, Morgan G, Levinsky RJ, Kinnon C
    Hum Mol Genet 1994(1): 79-83 [PubMed abstract].

  • Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: identification of a mutation which affects the same codon as is altered in immunodeficient xid mice.
    de Weers M, Mensink RG, Kraakman ME, Schuurman RK, Hendriks RW
    Hum Mol Genet 1994(1): 161-6 [PubMed abstract].

    1993

  • The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.
    Vetrie D, Vorechovský I, Sideras P, Holland J, Davies A, Flinter F, Hammarström L, Kinnon C, Levinsky R, Bobrow M
    Nature 1993(6409): 226-33 [PubMed abstract].

  • Nonsense mutations in the C-terminal SH2 region of the GTPase activating protein (GAP) gene in human tumours.
    Friedman E, Gejman PV, Martin GA, McCormick F
    Nat Genet 1993(3): 242-7 [PubMed abstract].

    1968

  • Hereditary alterations in the immune response: coexistence of "agammaglobulinemia", acquired hypogammaglobulinemia and selective immunoglobulin deficiency in a sibship.
    Buckley RH, Sidbury JB
    Pediatr Res 1968(2): 72-84 [PubMed abstract].