Unusual patterns of exon skipping in Bruton tyrosine kinase are associated with mutations involving the intron 17 3' splice site. (Q35238731)

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scientific article

Language	Label	Description	Also known as
English	Unusual patterns of exon skipping in Bruton tyrosine kinase are associated with mutations involving the intron 17 3' splice site.	scientific article

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2 November 2019

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

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2 November 2019

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R N Haire

1

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2 November 2019

Y Ohta

2

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2 November 2019

S J Strong

3

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2 November 2019

R T Litman

4

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2 November 2019

Y Liu

5

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2 November 2019

J T Prchal

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2 November 2019

M D Cooper

7

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2 November 2019

G W Litman

8

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2 November 2019

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1 April 1997

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2 November 2019

American Journal of Human Genetics

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2 November 2019

60

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2 November 2019

4

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2 November 2019

798-807

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2 November 2019

Agammaglobulinemia

1 reference

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13 July 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=1712487

13 July 2018

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

1 reference

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13 July 2018

Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.

1 reference

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13 July 2018

Initial splice-site recognition and pairing during pre-mRNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712487

13 July 2018

Discordant phenotype in siblings with X-linked agammaglobulinemia

1 reference

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13 July 2018

Clonal stability of blood cell lineages indicated by X-chromosomal transcriptional polymorphism

1 reference

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13 July 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=1712487

13 July 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=1712487

13 July 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=1712487

13 July 2018

Identification, cloning, and characterization of a novel human T-cell-specific tyrosine kinase located at the hematopoietin complex on chromosome 5q

1 reference

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13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712487

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712487

13 July 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=1712487

13 July 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=1712487

13 July 2018

An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712487

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712487

13 July 2018

TXK, a novel human tyrosine kinase expressed in T cells shares sequence identity with Tec family kinases and maps to 4p12

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712487

13 July 2018

Molecular cloning and analysis of the human Tec protein-tyrosine kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712487

13 July 2018

Maintenance of an open reading frame as an additional level of scrutiny during splice site selection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712487

13 July 2018

The primary immunodeficiencies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712487

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712487

13 July 2018

Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in 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=1712487

13 July 2018

SH2 domain specificity and activity modified by a single residue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712487

13 July 2018

Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712487

13 July 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712487

13 July 2018

Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene

1 reference

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13 July 2018

A novel clonality assay based on transcriptional polymorphism of X chromosome gene p55.

1 reference

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26 September 2018

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

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26 September 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9106525

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9106525

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/9106525

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/9106525

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan

1 reference

https://pubmed.ncbi.nlm.nih.gov/9106525

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A common progenitor for human myeloid and lymphoid cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/9106525

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of the gene defect in X-linked agammaglobulinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9106525

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transcriptional analysis of the active X-chromosome in normal and clonal hematopoiesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9106525

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular diagnosis of X-linked agammaglobulinaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9106525

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/9106525

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9106525%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9106525%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

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