(Q30194173)

13 August 2017

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

1 reference

13 August 2017

Q Zhu

1

1 reference

13 August 2017

M Zhang

2

1 reference

13 August 2017

D J Rawlings

3

1 reference

13 August 2017

M Vihinen

4

1 reference

13 August 2017

T Hagemann

5

1 reference

13 August 2017

D C Saffran

6

1 reference

13 August 2017

S P Kwan

7

1 reference

13 August 2017

L Nilsson

8

1 reference

13 August 2017

C I Smith

9

1 reference

13 August 2017

O N Witte

10

1 reference

13 August 2017

S H Chen

11

1 reference

13 August 2017

H D Ochs

12

1 reference

13 August 2017

language of work or name

English

0 references

publication date

1 August 1994

1 reference

Journal of Experimental Medicine

13 August 2017

1 reference

13 August 2017

180

1 reference

13 August 2017

2

1 reference

13 August 2017

461-470

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

13 August 2017

1 reference

Identification of a ten-amino acid proline-rich SH3 binding site

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

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=2191618

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=2191618

Nonreceptor tyrosine protein 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=2191618

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=2191618

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=2191618

The PH domain: a common piece in the structural patchwork of signalling proteins

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical 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=2191618

Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: identification of a mutation which affects the same codon as is altered 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=2191618

Activation of phosphatidylinositol-3' kinase by Src-family kinase SH3 binding to the p85 subunit

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

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=2191618

Bruton's tyrosine kinase is a key regulator in B-cell development

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

A reagent for the single-step simultaneous isolation of RNA, DNA and proteins from cell and tissue samples.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

Csk inhibition of c-Src activity requires both the SH2 and SH3 domains of Src

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

Crystal structure of the SH3 domain in human Fyn; comparison of the three-dimensional structures of SH3 domains in tyrosine kinases and spectrin

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

Solution structure and ligand-binding site of the SH3 domain of the p85 alpha subunit of phosphatidylinositol 3-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=2191618

Solution structure of the SH3 domain of phospholipase C-gamma

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

Structure of the PI3K SH3 domain and analysis of the SH3 family

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

Closing in on SH2 specificity

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

Immunologic responses to bacteriophage ϕX 174 in immunodeficiency diseases

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

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=2191618

Splicing of messenger RNA precursors

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

Improved double-stranded DNA sequencing using the linear polymerase chain reaction

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

Activation of pp60c-src transforming potential by mutations altering the structure of an amino terminal domain containing residues 90-95.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

Amino acid substitutions sufficient to convert the nontransforming p60c-src protein to a transforming protein

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

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=2191618

Biochemical Mechanisms of Constitutive and Regulated Pre-mRNA Splicing

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

Molecular approaches to analysis of X-linked immunodeficiencies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

Factor IX mutations: rapid, direct screening methods for 20 new families with hemophilia B

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

Effects of SH2 and SH3 deletions on the functional activities of wild-type and transforming variants of c-Src

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

Identification of a protein that binds to the SH3 region of Abl and is similar to Bcr and GAP-rho

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

C. elegans cell-signalling gene sem-5 encodes a protein with SH2 and SH3 domains

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

Solution structure of the SH3 domain of Src and identification of its ligand-binding site

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

Crystal structure of a Src-homology 3 (SH3) 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=2191618

DNA sequencing with chain-terminating inhibitors

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

Epstein-Barr virus-induced lymphoblastoid cell lines derived from the peripheral blood of patients with X-linked agammaglobulinemia can secrete IgM

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2191618

The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome

26 November 2018

1 reference

12 December 2020

Molecular diagnosis of X-linked agammaglobulinaemia

1 reference

12 December 2020

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

1 reference

12 December 2020

A BstNI polymorphism at the BTK locus in Xq21.3-Xq22

1 reference

12 December 2020

Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis

1 reference

12 December 2020

Identifiers

DOI

10.1084/JEM.180.2.461

1 reference

13 August 2017

1 reference

13 August 2017

1 reference