(Q30176696)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9016530%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9016530%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

0 references

1

1 reference

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31 October 2019

Ilkka Lappalainen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9016530%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Smith Cie

14

1 reference

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31 October 2019

9

A Meindl

1 reference

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31 October 2019

author name string

B H Belohradsky

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9016530%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

R N Haire

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9016530%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

E Holinski-Feder

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9016530%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

S P Kwan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9016530%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

H Lehväslaiho

7

1 reference

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31 October 2019

T Lester

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9016530%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

H D Ochs

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9016530%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

J Ollila

11

1 reference

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31 October 2019

I Vorechovsky

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9016530%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

M Weiss

13

1 reference

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31 October 2019

language of work or name

English

0 references

publication date

1 January 1997

1 reference

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31 October 2019

published in

Nucleic Acids Research

1 reference

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31 October 2019

volume

25

1 reference

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31 October 2019

issue

1

1 reference

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31 October 2019

page(s)

166-171

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9016530%20AND%20SRC:MED&resulttype=core&format=json

Structural aspects of signal transduction in B-cells.

31 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

X-linked agammaglobulinemia and other immunoglobulin deficiencies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

Tec homology (TH) adjacent to the PH domain.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

Binding of beta gamma subunits of heterotrimeric G proteins to the PH domain of Bruton tyrosine kinase

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

Tec protein-tyrosine kinase directly associates with Lyn protein-tyrosine kinase through its N-terminal unique domain

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

Structural Characterization of the Interaction between a Pleckstrin Homology Domain and Phosphatidylinositol 4,5-Bisphosphate

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

Structural studies on the PH domains of Db1, Sos1, IRS-1, and beta ARK1 and their differential binding to G beta gamma subunits

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

Structure of the binding site for inositol phosphates in a PH domain

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

Protein modules and signalling networks

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

The pleckstrin homology domain of Bruton tyrosine kinase interacts with protein kinase C

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

Molecular and cellular aspects of X-linked agammaglobulinemia.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

The CpG dinucleotide and human genetic disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

Molecular basis of base substitution hotspots in Escherichia coli

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=146405

Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes

26 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutational analysis of the pleckstrin homology domain of the beta-adrenergic receptor kinase. Differential effects on G beta gamma and phosphatidylinositol 4,5-bisphosphate binding

1 reference

12 December 2020

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

1 reference

12 December 2020

Binding of G protein beta gamma-subunits to pleckstrin homology domains

1 reference

12 December 2020

Structural basis of SH2 domain mutations in X-linked agammaglobulinemia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

BTKbase: XLA-mutation registry

1 reference

12 December 2020

CD40Lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome

1 reference

12 December 2020

X-CGDbase: a database of X-CGD-causing mutations

1 reference

12 December 2020

Identifiers

DOI

10.1093/NAR/25.1.166

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9016530%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9016530%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

PubMed publication ID

9016530

1 reference