(Q30176486)

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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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scholarly article

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Europe PubMed Central

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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

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

5 November 2019

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B K Saha

1

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5 November 2019

S K Curtis

2

1 reference

Europe PubMed Central

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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

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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

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5 November 2019

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publication date

1 July 1997

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Europe PubMed Central

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5 November 2019

Molecular Medicine

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Europe PubMed Central

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

5 November 2019

3

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

5 November 2019

7

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5 November 2019

477-485

1 reference

Europe PubMed Central

PMC publication ID

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

PMC publication ID

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

5 November 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

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

5 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

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

5 November 2019

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