(Q36592292)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16969761%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

review article

1 reference

title

BTKbase: the mutation database for X-linked agammaglobulinemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16969761%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

0 references

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16969761%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Mauno Vihinen

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16969761%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1

Jouni Väliaho

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16969761%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

publication date

1 December 2006

1 reference

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30 December 2019

1 reference

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30 December 2019

volume

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16969761%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

issue

12

1 reference

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30 December 2019

page(s)

1209-1217

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16969761%20AND%20SRC:MED&resulttype=core&format=json

Six X-Linked Agammaglobulinemia-Causing Missense Mutations in the Src Homology 2 Domain of Bruton's Tyrosine Kinase: Phosphotyrosine-Binding and Circular Dichroism Analysis

30 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

Primary Immunodeficiencies: Genotype-Phenotype Correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

Genotype/phenotype correlations in X-linked agammaglobulinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Genes required for B cell development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

X-linked hypogammaglobulinemia and isolated growth hormone deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Solution structure of the SH3 domain from Bruton's tyrosine kinase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Structure-function effects in primary immunodeficiencies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Structural basis for X-linked agammaglobulinemia (XLA): mutations at interacting Btk residues R562, W563, and A582

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Crystal structure of Bruton's tyrosine kinase domain suggests a novel pathway for activation and provides insights into the molecular basis of X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Conformation of full-length Bruton tyrosine kinase (Btk) from synchrotron X-ray solution scattering.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Pleckstrin Homology Domains of Tec Family Protein Kinases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Sequence specificity in CpG mutation hotspots

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

KinMutBase: a registry of disease-causing mutations in protein kinase domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Regulation of Btk function by a major autophosphorylation site within the SH3 domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Immunodeficiency mutation databases (IDbases).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Activation of BTK by a phosphorylation mechanism initiated by SRC family kinases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

MUTbase: maintenance and analysis of distributed mutation databases.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Interaction between the Btk PH domain and phosphatidylinositol-3,4,5-trisphosphate directly regulates Btk.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Online Registry of Genetic and Clinical Immunodeficiency Diagnostic Laboratories, IDdiagnostics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Guidelines and recommendations for content, structure, and deployment of mutation databases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Conservation and covariance in PH domain sequences: physicochemical profile and information theoretical analysis of XLA-causing mutations in the Btk PH domain.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Molecular and cellular aspects of X-linked agammaglobulinemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

X-linked agammaglobulinemia: lack of mature B lineage cells caused by mutations in the Btk kinase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

The Tec family of cytoplasmic tyrosine kinases: mammalian Btk, Bmx, Itk, Tec, Txk and homologs in other species

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Analysis of Btk mutations in patients with X-linked agammaglobulinaemia (XLA) and determination of carrier status in normal female relatives: a nationwide study of Btk deficiency in Greece

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

IDR: the ImmunoDeficiency Resource.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Structural basis of SH2 domain mutations in X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Missense mutations affecting a conserved cysteine pair in the TH domain of Btk.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

SNPs, protein structure, and disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Regulation of Bruton tyrosine kinase by the peptidylprolyl isomerase Pin1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Loss of protein structure stability as a major causative factor in monogenic disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20410

7 January 2021

Identifiers

DOI

10.1002/HUMU.20410

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16969761%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16969761%20AND%20SRC:MED&resulttype=core&format=json