Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia (Q30176486)

From Wikidata

Jump to navigation Jump to search

scientific article

Language	Label	Description	Also known as
English	Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9260159%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9260159%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

B K Saha

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9260159%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

S K Curtis

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9260159%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

L B Vogler

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9260159%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

M Vihinen

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9260159%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

language of work or name

0 references

publication date

1 July 1997

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9260159%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Molecular Medicine

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9260159%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9260159%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

7

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9260159%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

477-485

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9260159%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Agammaglobulinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

Distinct specificity in the recognition of phosphoinositides by the pleckstrin homology domains of dynamin and Bruton's tyrosine kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

Structural aspects of signal transduction in B-cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

Defects in RNA splicing and the consequence of shortened translational reading frames

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia: predominance of amino acid substitutions in the catalytic domain of Bruton's tyrosine kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

Structure of the high affinity complex of inositol trisphosphate with a phospholipase C pleckstrin homology domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

Pleckstrin homology domains bind to phosphatidylinositol-4,5-bisphosphate.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

Crystal structure at 2.2 A resolution of the pleckstrin homology domain from human dynamin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

Three-dimensional solution structure of the pleckstrin homology domain from dynamin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

Protein kinases 6. The eukaryotic protein kinase superfamily: kinase (catalytic) domain structure and classification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

Structural characterization of the interaction between a pleckstrin homology domain and phosphatidylinositol 4,5-bisphosphate.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

Activation of Bruton's tyrosine kinase (BTK) by a point mutation in its pleckstrin homology (PH) domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

Crystal Structure of the Catalytic Subunit of Cyclic Adenosine Monophosphate-Dependent Protein Kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

3 June 2018

Identification of the Binding Site for Acidic Phospholipids on the PH Domain of Dynamin: Implications for Stimulation of GTPase Activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

26 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

26 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230218

26 November 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9260159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9260159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9260159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/9260159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel Tth111I restriction fragment length polymorphism (RFLP) allows tracing of X-chromosome inactivation in the (Xid) heterozygote

1 reference

https://pubmed.ncbi.nlm.nih.gov/9260159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation of the pleckstrin homology domain of Bruton's tyrosine kinase in immunodeficiency impaired inositol 1,3,4,5-tetrakisphosphate binding capacity

1 reference

https://pubmed.ncbi.nlm.nih.gov/9260159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9260159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9260159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9260159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assessing inheritance of agammaglobulinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9260159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new RFLP marker, SP282, at the btk locus for genetic analysis in X-linked agammaglobulinaemia families

1 reference

https://pubmed.ncbi.nlm.nih.gov/9260159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF03401694

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9260159%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9260159%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9260159%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q30176486&oldid=2175351531"