-
1
-
-
0033609388
-
Structure of Cdc42 in complex with the GTPase-binding domain of the 'Wiskott-Aldrich syndrome' protein
-
Abdul-Manan N, Aghazadeh B, Liu GA, Majumdar A, Ouerfelli O, Siminovitch KA, Rosen MK. 1999. Structure of Cdc42 in complex with the GTPase-binding domain of the 'Wiskott-Aldrich syndrome' protein. Nature 399: 379-383.
-
(1999)
Nature
, vol.399
, pp. 379-383
-
-
Abdul-Manan, N.1
Aghazadeh, B.2
Liu, G.A.3
Majumdar, A.4
Ouerfelli, O.5
Siminovitch, K.A.6
Rosen, M.K.7
-
2
-
-
0032231355
-
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles
-
Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS. 1998. Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. Am J Hum Genet 63: 1049-1059.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1049-1059
-
-
Arredondo-Vega, F.X.1
Santisteban, I.2
Daniels, S.3
Toutain, S.4
Hershfield, M.S.5
-
3
-
-
0037189401
-
-
Aiuti A, Slavin S, Aker M, Ficara F, Deola S, Mortellaro A, Morecki S, Andolfi G, Tabucchi A, Carlucci F, Marinello E, Cattaneo F, Vai S, Servida P, Miniero R, Roncarolo MG, Bordignon C. 2002. Science 2410-2413.
-
(2002)
Science
, pp. 2410-2413
-
-
Aiuti, A.1
Slavin, S.2
Aker, M.3
Ficara, F.4
Deola, S.5
Mortellaro, A.6
Morecki, S.7
Andolfi, G.8
Tabucchi, A.9
Carlucci, F.10
Marinello, E.11
Cattaneo, F.12
Vai, S.13
Servida, P.14
Miniero, R.15
Roncarolo, M.G.16
Bordignon, C.17
-
4
-
-
0031980516
-
Mutations in btk in patients with presumed X-linked agammaglobulinemia
-
Conley ME, Mathias D, Treadaway J, Minegishi Y, Rohrer J. 1998. Mutations in btk in patients with presumed X-linked agammaglobulinemia. Am J Hum Genet 62: 1034-1043.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1034-1043
-
-
Conley, M.E.1
Mathias, D.2
Treadaway, J.3
Minegishi, Y.4
Rohrer, J.5
-
5
-
-
0032806334
-
Diagnostic criteria for primary immunodeficiencies
-
Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)
-
Conley ME, Notarangelo LD, Etzioni A. 1999. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol 93: 190-197.
-
(1999)
Clin Immunol
, vol.93
, pp. 190-197
-
-
Conley, M.E.1
Notarangelo, L.D.2
Etzioni, A.3
-
6
-
-
0034307655
-
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
-
Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, Boxer LA, Kannourakis G, Zeidler C, Welte K, Benson KF, Horwitz M. 2000. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 96: 2317-2322.
-
(2000)
Blood
, vol.96
, pp. 2317-2322
-
-
Dale, D.C.1
Person, R.E.2
Bolyard, A.A.3
Aprikyan, A.G.4
Bos, C.5
Bonilla, M.A.6
Boxer, L.A.7
Kannourakis, G.8
Zeidler, C.9
Welte, K.10
Benson, K.F.11
Horwitz, M.12
-
7
-
-
0027937223
-
Isolation of a novel gene mutated in Wiskott-Aldrich syndrome
-
Derry JM, Ochs HD, Francke U. 1994. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 78: 635-644.
-
(1994)
Cell
, vol.78
, pp. 635-644
-
-
Derry, J.M.1
Ochs, H.D.2
Francke, U.3
-
8
-
-
0034606219
-
Severe B cell deficiency in mice lacking the tec kinase family members Tec and Btk
-
EllmeierW, Jung S, Sunshine MJ, Hatam F, Xu Y, Baltimore D, Mano H, Littman DR. 2000. Severe B cell deficiency in mice lacking the tec kinase family members Tec and Btk. J Exp Med 192: 1611-1624.
-
(2000)
J Exp Med
, vol.192
, pp. 1611-1624
-
-
Ellmeier, W.1
Jung, S.2
Sunshine, M.J.3
Hatam, F.4
Xu, Y.5
Baltimore, D.6
Mano, H.7
Littman, D.R.8
-
9
-
-
19244372556
-
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. 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. Blood 91: 595-602.
-
(1998)
Blood
, vol.91
, pp. 595-602
-
-
Futatani, T.1
Miyawaki, T.2
Tsukada, S.3
Hashimoto, S.4
Kunikata, T.5
Arai, S.6
Kurimoto, M.7
Niida, Y.8
Matsuoka, H.9
Sakiyama, Y.10
Iwata, T.11
Tsuchiya, S.12
Tatsuzawa, O.13
Yoshizaki, K.14
Kishimoto, T.15
-
10
-
-
0032478131
-
Solution structure of the SH3 domain from Bruton's tyrosine kinase
-
Hansson H, Mattsson PT, Allard P, Haapaniemi P, Vihinen M, Smith CI, Hard T. 1998. Solution structure of the SH3 domain from Bruton's tyrosine kinase. Biochemistry 37: 2912-2924.
-
(1998)
Biochemistry
, vol.37
, pp. 2912-2924
-
-
Hansson, H.1
Mattsson, P.T.2
Allard, P.3
Haapaniemi, P.4
Vihinen, M.5
Smith, C.I.6
Hard, T.7
-
11
-
-
0141853011
-
Genotype is an important determinant of phenotype in adenosine deaminase deficiency
-
Hershfield MS. 2003. Genotype is an important determinant of phenotype in adenosine deaminase deficiency. Curr Opin Immunol 15: 571-577.
-
(2003)
Curr Opin Immunol
, vol.15
, pp. 571-577
-
-
Hershfield, M.S.1
-
12
-
-
2942717809
-
WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype
-
Imai K, Nonoyama S, Ochs HD. 2003. WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. Curr Opin Allergy Clin Immunol 3: 427-436.
-
(2003)
Curr Opin Allergy Clin Immunol
, vol.3
, pp. 427-436
-
-
Imai, K.1
Nonoyama, S.2
Ochs, H.D.3
-
13
-
-
9144241005
-
Clinical course of patients with WASP gene mutations
-
Imai K, Morio T, Zhu Y, Jin Y, Itoh S, Kajiwara M, Yata J, Mizutani S, Ochs HD, Nonoyama S. 2004. Clinical course of patients with WASP gene mutations. Blood 103: 456-464.
-
(2004)
Blood
, vol.103
, pp. 456-464
-
-
Imai, K.1
Morio, T.2
Zhu, Y.3
Jin, Y.4
Itoh, S.5
Kajiwara, M.6
Yata, J.7
Mizutani, S.8
Ochs, H.D.9
Nonoyama, S.10
-
14
-
-
19044396637
-
Analysis of class switch recombination and somatic hypermutations in patients affected with autosomal dominant hyper-IgM type 2
-
Imai K, Zhu Y, Revy P, Morio T, Mizutani S, Fischer A, Nonoyama S, Durandy A. 2005. Analysis of class switch recombination and somatic hypermutations in patients affected with autosomal dominant hyper-IgM type 2. Clin Immunol 115: 277-285.
-
(2005)
Clin Immunol
, vol.115
, pp. 277-285
-
-
Imai, K.1
Zhu, Y.2
Revy, P.3
Morio, T.4
Mizutani, S.5
Fischer, A.6
Nonoyama, S.7
Durandy, A.8
-
15
-
-
0039710379
-
Structure of the PH domain and Btk motif from Bruton's tyrosine kinase: molecular explanations for X-linked agammaglobulinaemia
-
Hyvönen M, Saraste M. 1997. Structure of the PH domain and Btk motif from Bruton's tyrosine kinase: molecular explanations for X-linked agammaglobulinaemia. EMBO J 16: 3396-2304.
-
(1997)
EMBO J
, vol.16
, pp. 3396-2304
-
-
Hyvönen, M.1
Saraste, M.2
-
16
-
-
0030728921
-
-
Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, Proujansky R. 1997. Am J Hum Genet 61(5): 1053-1058.
-
(1997)
Am J Hum Genet
, vol.61
, Issue.5
, pp. 1053-1058
-
-
Johnston, J.1
Kelley, R.I.2
Feigenbaum, A.3
Cox, G.F.4
Iyer, G.S.5
Funanage, V.L.6
Proujansky, R.7
-
17
-
-
19944434293
-
Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling
-
Lindvall JM, Blomberg KE, Valiaho J, Vargas L, Heinonen JE, Berglof A, Mohamed AJ, Nore BF, Vihinen M, Smith CI. 2005. Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling. Immunol Rev 203: 200-215.
-
(2005)
Immunol Rev
, vol.203
, pp. 200-215
-
-
Lindvall, J.M.1
Blomberg, K.E.2
Valiaho, J.3
Vargas, L.4
Heinonen, J.E.5
Berglof, A.6
Mohamed, A.J.7
Nore, B.F.8
Vihinen, M.9
Smith, C.I.10
-
18
-
-
0035798646
-
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. 2001. 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. J Biol Chem 276: 41435-41443.
-
(2001)
J Biol Chem
, vol.276
, pp. 41435-41443
-
-
Mao, C.1
Zhou, M.2
Uckun, F.M.3
-
19
-
-
0035917489
-
Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency
-
Moshous D, Callebaut I, de Chasseval R, Corneo B, Cavazzana-Calvo M, Le Deist F, Tezcan I, Sanal O, Bertrand Y, Philippe N, Fischer A, de Villartay JP. 2001. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 105: 177-186.
-
(2001)
Cell
, vol.105
, pp. 177-186
-
-
Moshous, D.1
Callebaut, I.2
de Chasseval, R.3
Corneo, B.4
Cavazzana-Calvo, M.5
Le Deist, F.6
Tezcan, I.7
Sanal, O.8
Bertrand, Y.9
Philippe, N.10
Fischer, A.11
de Villartay, J.P.12
-
20
-
-
0141629510
-
Wiskott-Aldrich Syndrome: a model for defective actin reorganization, cell trafficking and synapse formation
-
Notarangelo LD, Ochs HD. 2003. Wiskott-Aldrich Syndrome: a model for defective actin reorganization, cell trafficking and synapse formation. Curr Opin Immunol 15: 585-591.
-
(2003)
Curr Opin Immunol
, vol.15
, pp. 585-591
-
-
Notarangelo, L.D.1
Ochs, H.D.2
-
21
-
-
0031755919
-
The Wiskott-Aldrich syndrome
-
Ochs HD. 1998. The Wiskott-Aldrich syndrome. Semin Hematol 35: 332-345.
-
(1998)
Semin Hematol
, vol.35
, pp. 332-345
-
-
Ochs, H.D.1
-
22
-
-
18244362081
-
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency
-
O'Driscoll M, Cerosaletti KM, Girard PM, Dai Y, Stumm M, Kysela B, Hirsch B, Gennery A, Palmer SE, Seidel J, Gatti RA, Varon R, Oettinger MA, Neitzel H, Jeggo PA, Concannon P. 2001. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Mol Cell 8: 1175-1185.
-
(2001)
Mol Cell
, vol.8
, pp. 1175-1185
-
-
O'Driscoll, M.1
Cerosaletti, K.M.2
Girard, P.M.3
Dai, Y.4
Stumm, M.5
Kysela, B.6
Hirsch, B.7
Gennery, A.8
Palmer, S.E.9
Seidel, J.10
Gatti, R.A.11
Varon, R.12
Oettinger, M.A.13
Neitzel, H.14
Jeggo, P.A.15
Concannon, P.16
-
23
-
-
0030569351
-
Sequence specificity in CpG mutation hotspots
-
Ollila J, Lappalainen I, Vihinen M. 1996. Sequence specificity in CpG mutation hotspots. FEBS Lett 396: 119-122.
-
(1996)
FEBS Lett
, vol.396
, pp. 119-122
-
-
Ollila, J.1
Lappalainen, I.2
Vihinen, M.3
-
24
-
-
10744226125
-
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to activation-induced cytidine deaminase deficiency
-
Quartier P, Bustamante J, Sanal O, Plebani A, Debre M, Deville A, Litzman J, Levy J, Fermand JP, Lane P, Horneff G, Aksu G, Yalcin I, Davies G, Tezcan I, Ersoy F, Catalan N, Imai K, Fischer A, Durandy A. 2004. Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to activation-induced cytidine deaminase deficiency. Clin Immunol 110: 22-29.
-
(2004)
Clin Immunol
, vol.110
, pp. 22-29
-
-
Quartier, P.1
Bustamante, J.2
Sanal, O.3
Plebani, A.4
Debre, M.5
Deville, A.6
Litzman, J.7
Levy, J.8
Fermand, J.P.9
Lane, P.10
Horneff, G.11
Aksu, G.12
Yalcin, I.13
Davies, G.14
Tezcan, I.15
Ersoy, F.16
Catalan, N.17
Imai, K.18
Fischer, A.19
Durandy, A.20
more..
-
25
-
-
0034264851
-
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)
-
Revy P, Muto T, Levy Y, Geissmann F, Plebani A, Sanal O, Catalan N, Forveille M, Dufourcq-Labelouse R, Gennery A, Tezcan I, Ersoy F, Kayserili H, Ugazio AG, Brousse N, Muramatsu M, Notarangelo LD, Kinoshita K, Honjo T, Fischer A, Durandy A. 2000. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell 102: 565-575.
-
(2000)
Cell
, vol.102
, pp. 565-575
-
-
Revy, P.1
Muto, T.2
Levy, Y.3
Geissmann, F.4
Plebani, A.5
Sanal, O.6
Catalan, N.7
Forveille, M.8
Dufourcq-Labelouse, R.9
Gennery, A.10
Tezcan, I.11
Ersoy, F.12
Kayserili, H.13
Ugazio, A.G.14
Brousse, N.15
Muramatsu, M.16
Notarangelo, L.D.17
Kinoshita, K.18
Honjo, T.19
Fischer, A.20
Durandy, A.21
more..
-
26
-
-
0033400946
-
MUTbase: maintenance and analysis of distributed mutation databases
-
Riikonen P, Vihinen M. 1999. MUTbase: maintenance and analysis of distributed mutation databases. Bioinformatics 15: 852-859.
-
(1999)
Bioinformatics
, vol.15
, pp. 852-859
-
-
Riikonen, P.1
Vihinen, M.2
-
27
-
-
0033669220
-
Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain
-
Rong SB, Vihinen M. 2000. Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain. J Mol Med 78: 530-537.
-
(2000)
J Mol Med
, vol.78
, pp. 530-537
-
-
Rong, S.B.1
Vihinen, M.2
-
28
-
-
12144287918
-
Online registry of genetic and clinical immunodeficiency diagnostic laboratories, IDdiagnostics
-
Samarghitean C, Valiaho J, Vihinen M. 2004. Online registry of genetic and clinical immunodeficiency diagnostic laboratories, IDdiagnostics. J Clin Immunol 24: 53-61.
-
(2004)
J Clin Immunol
, vol.24
, pp. 53-61
-
-
Samarghitean, C.1
Valiaho, J.2
Vihinen, M.3
-
29
-
-
10144253125
-
RAG mutations in human B cell-negative SCID
-
Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, Lindner D, Friedrich W, Seger RA, Hansen-Hagge TE, Desiderio S, Lieber MR, Bartram CR. 1996. RAG mutations in human B cell-negative SCID. Science 274: 97-99.
-
(1996)
Science
, vol.274
, pp. 97-99
-
-
Schwarz, K.1
Gauss, G.H.2
Ludwig, L.3
Pannicke, U.4
Li, Z.5
Lindner, D.6
Friedrich, W.7
Seger, R.A.8
Hansen-Hagge, T.E.9
Desiderio, S.10
Lieber, M.R.11
Bartram, C.R.12
-
30
-
-
0242391985
-
RankViaContact: ranking and visualization of amino acid contacts
-
Shen B, Vihinen M. 2003. RankViaContact: ranking and visualization of amino acid contacts. Bioinformatics 19: 2161-2162.
-
(2003)
Bioinformatics
, vol.19
, pp. 2161-2162
-
-
Shen, B.1
Vihinen, M.2
-
31
-
-
2942689385
-
Conservation and covariance in PH domain sequences: physicochemical profile and information theoretical analysis of XLA-causing mutations in the Btk PH domain
-
Shen B, Vihinen M. 2004. Conservation and covariance in PH domain sequences: physicochemical profile and information theoretical analysis of XLA-causing mutations in the Btk PH domain. Protein Eng Des Select 17: 267-276.
-
(2004)
Protein Eng Des Select
, vol.17
, pp. 267-276
-
-
Shen, B.1
Vihinen, M.2
-
32
-
-
0041381361
-
AID mutant analyses indicate requirement for class-switch-specific cofactors
-
Ta VT, Nagaoka H, Catalan N, Durandy A, Fischer A, Imai K, Nonoyama S, Tashiro J, Ikegawa M, Ito S, Kinoshita K, Muramatsu M, Honjo T. 2003. AID mutant analyses indicate requirement for class-switch-specific cofactors. Nat Immunol 4(9): 843-848.
-
(2003)
Nat Immunol
, vol.4
, Issue.9
, pp. 843-848
-
-
Ta, V.T.1
Nagaoka, H.2
Catalan, N.3
Durandy, A.4
Fischer, A.5
Imai, K.6
Nonoyama, S.7
Tashiro, J.8
Ikegawa, M.9
Ito, S.10
Kinoshita, K.11
Muramatsu, M.12
Honjo, T.13
-
33
-
-
0027399081
-
Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia
-
Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, Sparkes RS, Kubagawa H, Mohandas T, Quan S, Belmont JW, Cooper MD, Conley ME,Witte ON. 1993. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 72: 279-290.
-
(1993)
Cell
, vol.72
, pp. 279-290
-
-
Tsukada, S.1
Saffran, D.C.2
Rawlings, D.J.3
Parolini, O.4
Allen, R.C.5
Klisak, I.6
Sparkes, R.S.7
Kubagawa, H.8
Mohandas, T.9
Quan, S.10
Belmont, J.W.11
Cooper, M.D.12
Conley, M.E.13
Witte, O.N.14
-
36
-
-
84889861326
-
Primary Immunodeficiency Diseases
-
Ochs HD, Smith CIE, Puck JM (eds)
-
Väliaho J, Samarghitean C, Piirilä H, Pusa M, Vihinen M. 2005a. Primary Immunodeficiency Diseases, Ochs HD, Smith CIE, Puck JM (eds).
-
(2005)
-
-
Väliaho, J.1
Samarghitean, C.2
Piirilä, H.3
Pusa, M.4
Vihinen, M.5
-
37
-
-
23944482518
-
Biomedical data description with XML
-
Distribution of immunodeficiency fact files-from Web to WAP
-
Väliaho J, Riikonen P, Vihinen M. 2005b. Biomedical data description with XML. Distribution of immunodeficiency fact files-from Web to WAP. BMC Med Inform Dec Making, 5: 21.
-
(2005)
BMC Med Inform Dec Making
, vol.5
, pp. 21
-
-
Väliaho, J.1
Riikonen, P.2
Vihinen, M.3
-
38
-
-
0029816014
-
Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema
-
Verpy E, Biasotto M, Brai M, Misiano G, Meo T, Tosi M. 1996. Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema. Am J Hum Genet 59: 308-319.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 308-319
-
-
Verpy, E.1
Biasotto, M.2
Brai, M.3
Misiano, G.4
Meo, T.5
Tosi, M.6
-
39
-
-
0027441332
-
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, Hammarstrom L, Kinnon C, Levinsky R, Bobrow M, Smith CIE, Bentley DR. 1993. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature 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
Hammarstrom, L.7
Kinnon, C.8
Levinsky, R.9
Bobrow, M.10
Smith, C.I.E.11
Bentley, D.R.12
-
40
-
-
0028641301
-
Structural basis of SH2 domain mutations in X-linked agammaglobulinemia
-
Vihinen M, Nilsson L, Smith CIE. 1994a. Structural basis of SH2 domain mutations in X-linked agammaglobulinemia. Biochem Biophys Res Commun 205: 1270-1277.
-
(1994)
Biochem Biophys Res Commun
, vol.205
, pp. 1270-1277
-
-
Vihinen, M.1
Nilsson, L.2
Smith, C.I.E.3
-
41
-
-
0028577730
-
Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease
-
Vihinen M, Vetrie D, Maniar HS, Ochs HD, Zhu Q, Vorechovský I, Webster ADA, Notarangelo LD, Nilsson L, Sowadski JM, Smith CIE. 1994b. Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease. Proc Natl Acad Sci USA 91: 12803-12807.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 12803-12807
-
-
Vihinen, M.1
Vetrie, D.2
Maniar, H.S.3
Ochs, H.D.4
Zhu, Q.5
Vorechovský, I.6
Webster, A.D.A.7
Notarangelo, L.D.8
Nilsson, L.9
Sowadski, J.M.10
Smith, C.I.E.11
-
42
-
-
0029074895
-
BTKbase: a database of XLA-causing mutations
-
International Study Group
-
Vihinen M, Cooper MD, de Saint Basile G, Fischer A, Good RA, Hendriks RW, Kinnon C, Kwan S-P, Litman GW, Notarangelo LD, Ochs HD, Rosen FS, Vetrie D, Webster ADB, Zegers BJM, Smith CIE. 1995a. BTKbase: a database of XLA-causing mutations. International Study Group. Immunol Today 16: 460-465.
-
(1995)
Immunol Today
, vol.16
, pp. 460-465
-
-
Vihinen, M.1
Cooper, M.D.2
De Saint Basile, G.3
Fischer, A.4
Good, R.A.5
Hendriks, R.W.6
Kinnon, C.7
Kwan, S.-P.8
Litman, G.W.9
Notarangelo, L.D.10
Ochs, H.D.11
Rosen, F.S.12
Vetrie, D.13
Webster, A.D.B.14
Zegers, B.J.M.15
Smith, C.I.E.16
-
43
-
-
0028943589
-
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. 1995b. Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia. Biochemistry 34: 1475-1481.
-
(1995)
Biochemistry
, vol.34
, pp. 1475-1481
-
-
Vihinen, M.1
Zvelebil, M.J.2
Zhu, Q.3
Brooimans, R.A.4
Ochs, H.D.5
Zegers, B.J.6
Nilsson, L.7
Waterfield, M.D.8
Smith, C.I.9
-
44
-
-
0030862611
-
BTKbase, mutation database for X-linked agammaglobulinemia (XLA)
-
Vihinen M, Belohradsky BH, Haire RN, Holinski-Feder E, Kwan S-P, Lappalainen I, Lehväslaiho H, Lester T, Meindl A, Ochs HD, Ollila J, Vorechovský I, Weiss M, Smith CIE. 1997. BTKbase, mutation database for X-linked agammaglobulinemia (XLA). Nucl Acids Res 25: 166-171.
-
(1997)
Nucl Acids Res
, vol.25
, pp. 166-171
-
-
Vihinen, M.1
Belohradsky, B.H.2
Haire, R.N.3
Holinski-Feder, E.4
Kwan, S.-P.5
Lappalainen, I.6
Lehväslaiho, H.7
Lester, T.8
Meindl, A.9
Ochs, H.D.10
Ollila, J.11
Vorechovský, I.12
Weiss, M.13
Smith, C.I.E.14
-
45
-
-
0033058967
-
Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia
-
Vihinen M, Kwan SP, Lester T, Ochs HD, Resnick I, Valiaho J, Conley ME, Smith CI. 1999. Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. Hum Mutat 13: 280-285.
-
(1999)
Hum Mutat
, vol.13
, pp. 280-285
-
-
Vihinen, M.1
Kwan, S.P.2
Lester, T.3
Ochs, H.D.4
Resnick, I.5
Valiaho, J.6
Conley, M.E.7
Smith, C.I.8
-
46
-
-
18044383359
-
Primary immunodeficiency mutation databases
-
Vihinen M, Arredondo-Vega FX, Casanova JL, Etzioni A, Giliani S, Hammarstrom L, Hershfield MS, Heyworth PG, Hsu AP, Lahdesmaki A, Lappalainen I, Notarangelo LD, Puck JM, Reith W, Roos D, Schumacher RF, Schwarz K, Vezzoni P, Villa A, Valiaho J, Smith CI. 2001. Primary immunodeficiency mutation databases. Adv Genet 43: 103-188.
-
(2001)
Adv Genet
, vol.43
, pp. 103-188
-
-
Vihinen, M.1
Arredondo-Vega, F.X.2
Casanova, J.L.3
Etzioni, A.4
Giliani, S.5
Hammarstrom, L.6
Hershfield, M.S.7
Heyworth, P.G.8
Hsu, A.P.9
Lahdesmaki, A.10
Lappalainen, I.11
Notarangelo, L.D.12
Puck, J.M.13
Reith, W.14
Roos, D.15
Schumacher, R.F.16
Schwarz, K.17
Vezzoni, P.18
Villa, A.19
Valiaho, J.20
Smith, C.I.21
more..
-
47
-
-
0032577548
-
Partial V(D)J recombination activity leads to Omenn syndrome
-
Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Gatta LB, Ochs HD, Schwarz K, Notarangelo LD, Vezzoni P, Spanopoulou E. 1998. Partial V(D)J recombination activity leads to Omenn syndrome. Cell 93: 885-896.
-
(1998)
Cell
, vol.93
, pp. 885-896
-
-
Villa, A.1
Santagata, S.2
Bozzi, F.3
Giliani, S.4
Frattini, A.5
Imberti, L.6
Gatta, L.B.7
Ochs, H.D.8
Schwarz, K.9
Notarangelo, L.D.10
Vezzoni, P.11
Spanopoulou, E.12
-
48
-
-
0035161258
-
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations
-
Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen TG, Arkwright PD, Baniyash M, Brooks EG, Conley ME, Cortes P, Duse M, Fasth A, Filipovich AM, Infante AJ, Jones A, Mazzolari E, Muller SM, Pasic S, Rechavi G, Sacco MG, Santagata S, Schroeder ML, Seger R, Strina D, Ugazio A, Valiaho J, Vihinen M, Vogler LB, Ochs H, Vezzoni P, FriedrichW, Schwarz K. 2001. V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. Blood 97: 81-88.
-
(2001)
Blood
, vol.97
, pp. 81-88
-
-
Villa, A.1
Sobacchi, C.2
Notarangelo, L.D.3
Bozzi, F.4
Abinun, M.5
Abrahamsen, T.G.6
Arkwright, P.D.7
Baniyash, M.8
Brooks, E.G.9
Conley, M.E.10
Cortes, P.11
Duse, M.12
Fasth, A.13
Filipovich, A.M.14
Infante, A.J.15
Jones, A.16
Mazzolari, E.17
Muller, S.M.18
Pasic, S.19
Rechavi, G.20
Sacco, M.G.21
Santagata, S.22
Schroeder, M.L.23
Seger, R.24
Strina, D.25
Ugazio, A.26
Valiaho, J.27
Vihinen, M.28
Vogler, L.B.29
Ochs, H.30
Vezzoni, P.31
Friedrich, W.32
Schwarz, K.33
more..
-
49
-
-
0037112347
-
Structure of the N-WASP EVH1 domain-WIP complex: insight into the molecular basis of Wiskott-Aldrich Syndrome
-
Volkman BF, Prehoda KE, Scott JA, Peterson FC, Lim WA. 2002. Structure of the N-WASP EVH1 domain-WIP complex: insight into the molecular basis of Wiskott-Aldrich Syndrome. Cell 111: 565-576.
-
(2002)
Cell
, vol.111
, pp. 565-576
-
-
Volkman, B.F.1
Prehoda, K.E.2
Scott, J.A.3
Peterson, F.C.4
Lim, W.A.5
-
50
-
-
0026434561
-
Atomic structure of adenosine deaminase complexed with a transition-state analog: understanding catalysis and immunodeficiency mutations
-
Wilson DK, Rudolph FB, Quiocho FA. 1991. Atomic structure of adenosine deaminase complexed with a transition-state analog: understanding catalysis and immunodeficiency mutations. Science 252: 1278-1284.
-
(1991)
Science
, vol.252
, pp. 1278-1284
-
-
Wilson, D.K.1
Rudolph, F.B.2
Quiocho, F.A.3
-
51
-
-
0028261105
-
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, Hageman T, Saffran DC, Kwan S-P, Nilsson L, Smith CIE, Witte ON, Chen S-H, Ochs HD. 1994. Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA). J Exp Med 180: 461-470.
-
(1994)
J Exp Med
, vol.180
, pp. 461-470
-
-
Zhu, Q.1
Zhang, M.2
Rawlings, D.J.3
Vihinen, M.4
Hageman, T.5
Saffran, D.C.6
Kwan, S.-P.7
Nilsson, L.8
Smith, C.I.E.9
Witte, O.N.10
Chen, S.-H.11
Ochs, H.D.12
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