A novel Bruton's tyrosine kinase mutation in patient with X-linked agammaglobulinemia

被引:0
|
作者
Deryabina, S. [1 ,2 ,3 ]
Tuzankina, I. [1 ,3 ,4 ]
Vlasova, E. [4 ]
Berenshteyn, A. [5 ]
Bolkov, M. [1 ,3 ]
机构
[1] Russian Acad Sci, Ural Branch, Inst Immunol & Physiol, Ekaterinburg, Russia
[2] Med Ctr Hlth Care Mother & Child, Ekaterinburg, Russia
[3] Ural Fed Univ, Fed State Autonomous Educ Inst Higher Educ, Ekaterinburg, Russia
[4] Sverdlovsk Reg Children Clin Hosp 1, Ekaterinburg, Russia
[5] Dmitry Rogachev Natl Res Ctr Pediat Hematol Oncol, Moscow, Russia
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
E-P07.47
引用
收藏
页码:920 / 920
页数:1
相关论文
共 50 条
  • [41] A novel mutation (Cys(145->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, HY
    Sung, SSJ
    Fu, SM
    Litman, GW
    MOLECULAR MEDICINE, 1996, 2 (05) : 619 - 623
  • [42] Neutrophil development and function critically depend on Bruton tyrosine kinase in a mouse model of X-linked agammaglobulinemia
    Fiedler, Katja
    Sindrilaru, Anca
    Terszowski, Grzegorz
    Kokai, Enikoe
    Feyerabend, Thorsten B.
    Bullinger, Lars
    Rodewald, Hans-Reimer
    Brunner, Cornelia
    BLOOD, 2011, 117 (04) : 1329 - 1339
  • [43] Juvenile onset psoriatic arthritis in a patient with X-linked agammaglobulinemia (Bruton's disease)
    Palazzi, C
    D'Amico, E
    Cacciatore, P
    Pennese, E
    Petricca, A
    Olivieri, I
    SCANDINAVIAN JOURNAL OF RHEUMATOLOGY, 2003, 32 (05) : 309 - 311
  • [44] MUTATION ANALYSIS OF THE GENE ENCODING BRUTON TYROSINE KINASE IN A FAMILY WITH A SPORADIC CASE OF X-LINKED AGAMMAGLOBULINEMIA REVEALS 3 FEMALE CARRIERS
    HAGEMANN, TL
    ASSAAD, AH
    KWAN, SP
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 59 (02): : 188 - 192
  • [45] Carbapenem resistant Campylobacter jejuni bacteremia in a Bruton's X-linked agammaglobulinemia patient
    Zhuo, Ran
    Younes, Ramee L.
    Ward, Kevin
    Yang, Shangxin
    EUROPEAN JOURNAL OF CLINICAL MICROBIOLOGY & INFECTIOUS DISEASES, 2024, 43 (12) : 2459 - 2463
  • [46] Crystal structure of Bruton's tyrosine kinase domain suggests a novel pathway for activation and provides insights into the molecular basis of X-linked agammaglobulinemia
    Mao, C
    Zhou, M
    Uckun, FM
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (44) : 41435 - 41443
  • [47] 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
    HUMAN MUTATION, 1998, 11 (04) : 336 - 336
  • [48] M630L MUTATION DISRUPTS THE STRUCTURE CONFORMATION OF BRUTON TYROSINE KINASE (BTK) DOMAIN IN PATIENT WITH X-LINKED AGAMMAGLOBULINEMIA: INSIGHTS FROM IN SILICO
    Ruzani, Muhammad Syahrul Nizam Mohd
    Tahab, Siti Fatimah Mohd
    Ripen, Adiratna Mat
    Mohamad, Saharuddin
    Hamid, Azzmer Azzar Abdul
    Ismail, Che Muhammad Khairul Hisyam
    Merican, Amir Feisal
    JURNAL TEKNOLOGI-SCIENCES & ENGINEERING, 2025, 87 (01): : 141 - 149
  • [49] A Novel Mutation in the SH2 Domain of Brutons Tyrosine Kinase Leading to X-Linked Agammaglobulinemia.
    Bausch-Jurken, Mary T.
    Hintermeyer, Mary
    Woodliff, Jeffrey
    Chen, Shaoying
    Rymaszewski, Amy
    Verbsky, James
    Routes, John
    JOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (03) : 338 - 339
  • [50] 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
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 63 (01): : 318 - 322