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

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

2 November 2019

title

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

1 reference

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2 November 2019

R N Haire

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2 November 2019

Y Ohta

1 reference

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2 November 2019

S J Strong

1 reference

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2 November 2019

R T Litman

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2 November 2019

Y Liu

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2 November 2019

J T Prchal

1 reference

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2 November 2019

M D Cooper

1 reference

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2 November 2019

G W Litman

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2 November 2019

language of work or name

English

0 references

publication date

1 April 1997

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

American Journal of Human Genetics

2 November 2019

published in

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2 November 2019

volume

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2 November 2019

issue

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2 November 2019

page(s)

798-807

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2 November 2019

1 reference

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

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

13 July 2018

1 reference

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

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

13 July 2018

1 reference

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

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.

13 July 2018

1 reference

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

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

13 July 2018

1 reference

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

Discordant phenotype in siblings with X-linked agammaglobulinemia

13 July 2018

1 reference

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

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

13 July 2018

1 reference

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

13 July 2018

1 reference

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

13 July 2018

1 reference

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

13 July 2018

1 reference

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

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

13 July 2018

1 reference

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

13 July 2018

1 reference

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

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

13 July 2018

1 reference

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

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

13 July 2018

1 reference

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

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

13 July 2018

1 reference

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

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

13 July 2018

1 reference

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

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

13 July 2018

1 reference

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

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

13 July 2018

1 reference

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

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

13 July 2018

1 reference

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

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

13 July 2018

1 reference

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

The primary immunodeficiencies

13 July 2018

1 reference

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

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

13 July 2018

1 reference

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

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

13 July 2018

1 reference

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

SH2 domain specificity and activity modified by a single residue

13 July 2018

1 reference

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

13 July 2018

1 reference

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

13 July 2018

1 reference

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

13 July 2018

1 reference

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

13 July 2018

1 reference

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

26 September 2018

1 reference

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

26 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

A common progenitor for human myeloid and lymphoid cells

1 reference

12 December 2020

Expression of the gene defect in X-linked agammaglobulinemia

1 reference

12 December 2020

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

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

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12 December 2020

Identifiers

1 reference

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

2 November 2019

PubMed publication ID

9106525

1 reference

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