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   Variation registry for  X-linked agammaglobulinemia (XLA)


BTKbase mutation publications

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Search PubMed latest citations for BTK mutations

    2010

  • Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia.
    Lee PP, Chen TX, Jiang LP, Chan KW, Yang W, Lee BW, Chiang WC, Chen XY, Fok SF, Lee TL, Ho MH, Yang XQ, Lau YL
    J Clin Immunol 2010(1): 121-31 [PubMed abstract].

    2009

  • Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study.
    Tóth B, Volokha A, Mihas A, Pac M, Bernatowska E, Kondratenko I, Polyakov A, Erdos M, Pasic S, Bataneant M, Szaflarska A, Mironska K, Richter D, Stavrik K, Avcin T, Márton G, Nagy K, Dérfalvi B, Szolnoky M, Kalmár A, Belevtsev M, Guseva M, Rugina A, Kriván G, Timár L, Nyul Z, Mosdósi B, Kareva L, Peova S, Chernyshova L, Gherghina I, Serban M, Conley ME, Notarangelo LD, Smith CI, van Dongen J, van der Burg M, Maródi L
    Mol Immunol 2009(10): 2140-6 [PubMed abstract].

  • Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China.
    Wang Y, Kanegane H, Wang X, Han X, Zhang Q, Zhao S, Yu Y, Wang J, Miyawaki T
    J Clin Immunol 2009(3): 352-6 [PubMed abstract].

    2008

  • Identification of a Btk mutation in a dysgammaglobulinemic patient with reduced B cells: XLA diagnosis or not?
    Graziani S, Di Matteo G, Benini L, Di Cesare S, Chiriaco M, Chini L, Chianca M, De Iorio F, La Rocca M, Iannini R, Corrente S, Rossi P, Moschese V
    Clin Immunol 2008(3): 322-8 [PubMed abstract].

  • Transient myelodysplastic syndrome in X-linked agammaglobulinemia with a novel Btk mutation.
    Narula G, Currimbhoy Z
    Pediatr Blood Cancer 2008(6): 826-8 [PubMed abstract].

  • A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease.
    Conley ME, Farmer DM, Dobbs AK, Howard V, Aiba Y, Shurtleff SA, Kurosaki T
    Clin Exp Immunol 2008(1): 39-44 [PubMed abstract].

  • X-linked agammaglobulinemia diagnosed late in life: case report and review of the literature.
    Sigmon JR, Kasasbeh E, Krishnaswamy G
    Clin Mol Allergy 2008(): 5 [PubMed abstract].

  • Novel BTK mutation presenting with vaccine-associated paralytic poliomyelitis.
    Mamishi S, Shahmahmoudi S, Tabatabaie H, Teimourian S, Pourakbari B, Gheisari Y, Yeganeh M, Salavati A, Esteghamati AR, Gooya MM, Nategh R, Parvaneh N
    Eur J Pediatr 2008(11): 1335-8 [PubMed abstract].

  • Naturally occurring Bruton's tyrosine kinase mutations have no dominant negative effect in an X-linked agammaglobulinaemia cellular model.
    Pérez de Diego R, López-Granados E, Rivera J, Ferreira A, Fontán G, Bravo J, García Rodríguez MC, Bolland S
    Clin Exp Immunol 2008(1): 33-8 [PubMed abstract].

  • Analysis of clinical presentations of Bruton disease: a review of 20 years of accumulated data from pediatric patients at Severance Hospital.
    Chun JK, Lee TJ, Song JW, Linton JA, Kim DS
    Yonsei Med J 2008(1): 28-36 [PubMed abstract].

  • Asthma and allergic rhinitis in a patient with BTK deficiency.
    Shabestari MS, Rezaei N
    J Investig Allergol Clin Immunol 2008(4): 300-4 [PubMed abstract].

    2007

  • Characterization of novel Bruton's tyrosine kinase gene mutations in Central European patients with agammaglobulinemia.
    Kristufek D, Aspalter RM, Eibl MM, Wolf HM
    Mol Immunol 2007(7): 1639-43 [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].

  • Four novel and three recurrent mutations of the BTK gene and pathogenic effects of putative splice mutations.
    Wattanasirichaigoon D, Benjaponpitak S, Techasaensiri C, Kamchaisatian W, Vichyanond P, Janwityanujit S, Choubtum L, Sirinavin S
    J Hum Genet 2006(11): 1006-14 [PubMed abstract].

  • Chronic gingivitis in a new BTK mutation.
    Liu AJ, Dao-Ung LP, McDonald D, Nanan R
    Eur J Haematol 2006(2): 171-5 [PubMed abstract].

  • X-linked agammaglobulinemia diagnosed in adulthood: a case report.
    Mitsui T, Tsukamoto N, Kanegane H, Agematsu K, Sekigami T, Irisawa H, Saitoh T, Uchiumi H, Handa H, Matsushima T, Karasawa M, Murakami H, Miyawaki T, Nojima Y
    Int J Hematol 2006(2): 154-7 [PubMed abstract].

  • De novo mutation in the BTK gene of atypical X-linked agammaglobulinemia in a patient with recurrent pyoderma.
    Lin MT, Chien YH, Shyur SD, Huang LH, Chiang YC, Wen DC, Liang PH, Yang HC
    Ann Allergy Asthma Immunol 2006(5): 744-8 [PubMed abstract].

  • Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia.
    Aghamohammadi A, Fiorini M, Moin M, Parvaneh N, Teimourian S, Yeganeh M, Goffi F, Kanegane H, Amirzargar AA, Pourpak Z, Rezaei N, Salavati A, Pouladi N, Abdollahzade S, Notarangelo LD, Miyawaki T, Plebani A
    Int Arch Allergy Immunol 2006(4): 408-14 [PubMed abstract].

    2005

  • Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling.
    Lindvall JM, Blomberg KE, Väliaho J, Vargas L, Heinonen JE, Berglöf A, Mohamed AJ, Nore BF, Vihinen M, Smith CI
    Immunol Rev 2005(): 200-15 [PubMed abstract].

  • A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia.
    López-Granados E, Pérez de Diego R, Ferreira Cerdán A, Fontán Casariego G, García Rodríguez MC
    J Allergy Clin Immunol 2005(3): 690-7 [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].

  • 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

  • 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].

    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].

  • 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].

    2002

  • Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children.
    Noordzij JG, de Bruin-Versteeg S, Comans-Bitter WM, Hartwig NG, Hendriks RW, de Groot R, van Dongen JJ
    Pediatr Res 2002(2): 159-68 [PubMed abstract].

  • XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts.
    Noordzij JG, de Bruin-Versteeg S, Hartwig NG, Weemaes CM, Gerritsen EJ, Bernatowska E, van Lierde S, de Groot R, van Dongen JJ
    J Clin Immunol 2002(5): 306-18 [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].

  • Novel insertions of Bruton tyrosine kinase in patients with X-linked agammaglobulinemia.
    Okoh MP, Kainulainen L, Heiskanen K, Isa MN, Varming K, Ruuskanen O, Vihinen M
    Hum Mutat 2002(6): 480-1 [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].

  • Development of type 1 diabetes despite severe hereditary B-lymphocyte deficiency.
    Martin S, Wolf-Eichbaum D, Duinkerken G, Scherbaum WA, Kolb H, Noordzij JG, Roep BO
    N Engl J Med 2001(14): 1036-40 [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].

  • A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency.
    Wood PM, Mayne A, Joyce H, Smith CI, Granoff DM, Kumararatne DS
    J Pediatr 2001(1): 148-51 [PubMed abstract].

  • Maternal germinal mosaicism of X-linked agammaglobulinemia.
    Sakamoto M, Kanegane H, Fujii H, Tsukada S, Miyawaki T, Shinomiya N
    Am J Med Genet 2001(3): 234-7 [PubMed abstract].

  • Recurrent pneumonia with mild hypogammaglobulinemia diagnosed as X-linked agammaglobulinemia in adults.
    Usui K, Sasahara Y, Tazawa R, Hagiwara K, Tsukada S, Miyawaki T, Tsuchiya S, Nukiwa T
    Respir Res 2001(3): 188-92 [PubMed abstract].

  • A case of X-linked agammaglobulinemia diagnosed in adulthood.
    Stewart DM, Tian L, Nelson DL
    Clin Immunol 2001(1): 94-9 [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].

  • Bruton's tyrosine kinase is present in normal platelets and its absence identifies patients with X-linked agammaglobulinaemia and carrier females.
    Futatani T, Watanabe C, Baba Y, Tsukada S, Ochs HD
    Br J Haematol 2001(1): 141-9 [PubMed abstract].

    2000

  • Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients.
    Orlandi P, Ritis K, Moschese V, Angelini F, Arvanitidis K, Speletas M, Sideras P, Plebani A, Rossi P
    Hum Mutat 2000(1): 117 [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].

  • Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene.
    Curtis SK, Hebert MD, Saha BK
    Am J Med Genet 2000(3): 229-32 [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].

  • Identification of a new Bruton's tyrosine kinase (BTK) mutation associated with a mild phenotype in a child with X-linked agammaglobulinemia (XLA).
    Staehelin F, Kühne T
    Clin Lab Haematol 2000(2): 123-5 [PubMed abstract].

  • Bacteremia and skin/bone infections in two patients with X-linked agammaglobulinemia caused by an unusual organism related to Flexispira/Helicobacter species.
    Cuccherini B, Chua K, Gill V, Weir S, Wray B, Stewart D, Nelson D, Fuss I, Strober W
    Clin Immunol 2000(2): 121-9 [PubMed abstract].

  • X-linked agammaglobulinaemia and the underlying genetics in two kindreds.
    Pienaar S, Eley B, Beatty DW, Henderson HE
    J Paediatr Child Health 2000(5): 453-6 [PubMed abstract].

  • Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry.
    Kanegane H, Tsukada S, Iwata T, Futatani T, Nomura K, Yamamoto J, Yoshida T, Agematsu K, Komiyama A, Miyawaki T
    Clin Exp Immunol 2000(3): 512-7 [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].

    1999

  • Atypical X-linked agammaglobulinemia diagnosed in three adults.
    Hashimoto S, Miyawaki T, Futatani T, Kanegane H, Usui K, Nukiwa T, Namiuchi S, Matsushita M, Yamadori T, Suemura M, Kishimoto T, Tsukada S
    Intern Med 1999(9): 722-5 [PubMed abstract].

  • Recurrent bacteremia caused by a "Flexispira"-like organism in a patient with X-linked (Bruton's) agammaglobulinemia.
    Weir S, Cuccherini B, Whitney AM, Ray ML, MacGregor JP, Steigerwalt A, Daneshvar MI, Weyant R, Wray B, Steele J, Strober W, Gill VJ
    J Clin Microbiol 1999(8): 2439-45 [PubMed abstract].

    1998

  • 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].

  • 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, Nakajima T, Matsuo M, Sumino K
    Hum Mutat 1998(4): 336 [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].

  • Absence of Bruton's tyrosine kinase (Btk) mutations in patients with acute myeloid leukaemia.
    Ritis K, Speletas M, Tsironidou V, Pardali E, Kanariou M, Moschese V, Orlandi P, Skordala M, Rossi P, Kartalis G, Bourikas G, Sideras P
    Br J Haematol 1998(5): 1241-8 [PubMed abstract].

    1997

  • Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia.
    Saha BK, Curtis SK, Vogler LB, Vihinen M
    Mol Med 1997(7): 477-85 [PubMed abstract].

  • Missense mutations affecting a conserved cysteine pair in the TH domain of Btk.
    Vihinen M, Nore BF, Mattsson PT, Bäckesjö CM, Nars M, Koutaniemi S, Watanabe C, Lester T, Jones A, Ochs HD, Smith CI
    FEBS Lett 1997(2): 205-10 [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].

  • Discordant phenotype in siblings with X-linked agammaglobulinemia.
    Bykowsky MJ, Haire RN, Ohta Y, Tang H, Sung SS, Veksler ES, Greene JM, Fu SM, Litman GW, Sullivan KE
    Am J Hum Genet 1996(3): 477-83 [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].

  • Neutropenia in X-linked agammaglobulinemia.
    Farrar JE, Rohrer J, Conley ME
    Clin Immunol Immunopathol 1996(3): 271-6 [PubMed abstract].

  • A novel mutation (Cys145-->Stop) in Bruton's tyrosine kinase is associated with newly diagnosed X-linked agammaglobulinemia in a 51-year-old male.
    Kornfeld SJ, Haire RN, Strong SJ, Tang H, Sung SS, Fu SM, Litman GW
    Mol Med 1996(5): 619-23 [PubMed abstract].

    1995

  • Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia.
    Vihinen M, Zvelebil MJ, Zhu Q, Brooimans RA, Ochs HD, Zegers BJ, Nilsson L, Waterfield MD, Smith CI
    Biochemistry 1995(5): 1475-81 [PubMed abstract].

  • 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].

  • Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia: predominance of amino acid substitutions in the catalytic domain of Bruton's tyrosine kinase.
    Vorechovský I, Luo L, de Saint Basile G, Hammarström L, Webster AD, Smith CI
    Hum Mol Genet 1995(12): 2403-5 [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].

  • 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, Bougnères P, Amselem S, Goossens M
    FEBS Lett 1994(2-3): 165-70 [PubMed abstract].

  • Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease.
    Vihinen M, Vetrie D, Maniar HS, Ochs HD, Zhu Q, Vorechovský I, Webster AD, Notarangelo LD, Nilsson L, Sowadski JM
    Proc Natl Acad Sci U S A 1994(26): 12803-7 [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].

  • Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA).
    Zhu Q, Zhang M, Rawlings DJ, Vihinen M, Hagemann T, Saffran DC, Kwan SP, Nilsson L, Smith CI, Witte ON, Chen SH, Ochs HD
    J Exp Med 1994(2): 461-70 [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].

  • Expression of Bruton's agammaglobulinemia tyrosine kinase gene, BTK, is selectively down-regulated in T lymphocytes and plasma cells.
    Smith CI, Baskin B, Humire-Greiff P, Zhou JN, Olsson PG, Maniar HS, Kjellén P, Lambris JD, Christensson B, Hammarström L
    J Immunol 1994(2): 557-65 [PubMed abstract].

  • Expression of Bruton's tyrosine kinase protein within the B cell lineage.
    Genevier HC, Hinshelwood S, Gaspar HB, Rigley KP, Brown D, Saeland S, Rousset F, Levinsky RJ, Callard RE, Kinnon C
    Eur J Immunol 1994(12): 3100-5 [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].

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    1993

  • The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.
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  • A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase.
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