BTKbase, mutation database for X-linked agammaglobulinemia (XLA) (Q57269822)

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8 November 2019

title

BTKbase, mutation database for X-linked agammaglobulinemia (XLA) (English)

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8 November 2019

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8 November 2019

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8 November 2019

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8 November 2019

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8 November 2019

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8 November 2019

O Brandau

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8 November 2019

S P Kwan

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8 November 2019

T Lester

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8 November 2019

H D Ochs

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8 November 2019

J Ollila

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8 November 2019

S M Pienaar

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8 November 2019

P Riikonen

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8 November 2019

B K Saha

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8 November 2019

language of work or name

English

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publication date

1 January 1998

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8 November 2019

published in

Nucleic Acids Research

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8 November 2019

volume

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8 November 2019

issue

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8 November 2019

page(s)

242-247

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Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia

8 November 2019

cites work

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12 December 2020

Molecular and cellular aspects of X-linked agammaglobulinemia.

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12 December 2020

Structure of the PH domain and Btk motif from Bruton's tyrosine kinase: molecular explanations for X-linked agammaglobulinaemia

1 reference

12 December 2020

BTKbase: a database of XLA-causing mutations. International Study Group.

1 reference

12 December 2020

Identification of Btk mutations in 20 unrelated patients with X-Iinked agammaglobulinaemia (XLA)

1 reference

12 December 2020

BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

1 reference

12 December 2020

X-linked agammaglobulinemia (XLA): a genetic tyrosine kinase (Btk) disease

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12 December 2020

A novel mutation (Cys145-->Stop) in Bruton's tyrosine kinase is associated with newly diagnosed X-linked agammaglobulinemia in a 51-year-old male.

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12 December 2020

Sequence specificity in CpG mutation hotspots

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12 December 2020

Immunodeficiency mutation databases--a new research tool

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12 December 2020

BTKbase: XLA-mutation registry

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12 December 2020

BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

1 reference

12 December 2020

Unusual patterns of exon skipping in Bruton tyrosine kinase are associated with mutations involving the intron 17 3' splice site.

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12 December 2020

Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains

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12 December 2020

Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia

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12 December 2020

Molecular and Structural Characterization of Five Novel Mutations in the Bruton’s Tyrosine Kinase Gene from Patients with X-Linked Agammaglobulinemia

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12 December 2020

Missense mutations affecting a conserved cysteine pair in the TH domain of Btk

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12 December 2020

Direct stimulation of Bruton's tyrosine kinase by Gq-protein α-subunit

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12 December 2020

REBASE - restriction enzymes and methylases

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12 December 2020

Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism

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12 December 2020

Heterogeneity in the map distance between X-linked agammaglobulinemia and a map of nine RFLP loci

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12 December 2020

Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus

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12 December 2020

itk, a T-cell-specific tyrosine kinase gene inducible by interleukin 2

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12 December 2020

Developmental regulation of a murine T-cell-specific tyrosine kinase gene, Tsk

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12 December 2020

The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

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12 December 2020

Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia

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12 December 2020

Expression of a novel form of Tec kinase in hematopoietic cells and mapping of the gene to chromosome 5 near Kit

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12 December 2020

SRS--an indexing and retrieval tool for flat file data libraries.

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12 December 2020

The Bruton's tyrosine kinase gene is expressed throughout B cell differentiation, from early precursor B cell stages preceding immunoglobulin gene rearrangement up to mature B cell stages

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12 December 2020

Expression of Bruton's agammaglobulinemia tyrosine kinase gene, BTK, is selectively down-regulated in T lymphocytes and plasma cells.

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12 December 2020

Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA)

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12 December 2020

Binding of Bruton's tyrosine kinase to Fyn, Lyn, or Hck through a Src homology 3 domain-mediated interaction

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12 December 2020

Tec homology (TH) adjacent to the PH domain.

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12 December 2020

X-linked agammaglobulinemia and other immunoglobulin deficiencies

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12 December 2020

Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia

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12 December 2020

The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia.

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12 December 2020

Isolation of cosmid and cDNA clones in the region surrounding the BTK gene at Xq21.3-q22

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12 December 2020

BMX, a novel nonreceptor tyrosine kinase gene of the BTK/ITK/TEC/TXK family located in chromosome Xp22.2

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12 December 2020

Genomic organization of mouse and human Bruton's agammaglobulinemia tyrosine kinase (Btk) loci.

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12 December 2020

Structural basis of SH2 domain mutations in X-linked agammaglobulinemia

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12 December 2020

Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease

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12 December 2020

Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia

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12 December 2020

Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia

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12 December 2020

DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia

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12 December 2020

The protein product of the c-cbl protooncogene is phosphorylated after B cell receptor stimulation and binds the SH3 domain of Bruton's tyrosine kinase

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12 December 2020

The SH3 domain of Bruton's tyrosine kinase interacts with Vav, Sam68 and EWS

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12 December 2020

Identifiers

DOI

10.1093/NAR/26.1.242

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journals/nar/VihinenBBKLLNOOPRSS98

8 November 2019

DBLP publication ID

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DBLP Dataset 2021-01-02

28 January 2021

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8 November 2019

PubMed publication ID

9399844

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