(Q34263693)

1 August 2017

1 reference

title

Genotype is an important determinant of phenotype in adenosine deaminase deficiency (English)

1 reference

1 August 2017

1 reference

1 reference

https://api.crossref.org/works/10.1016/S0952-7915(03)00104-3

11 March 2024

author name string

Michael S. Hershfield

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14499267

11 March 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14499267

11 March 2024

publication date

1 October 2003

1 reference

full work available at URL

1 August 2017

https://api.elsevier.com/content/article/PII:S0952791503001043?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/S0952-7915(03)00104-3

https://api.elsevier.com/content/article/PII:S0952791503001043?httpAccept=text/plain

11 March 2024

1 reference

https://api.crossref.org/works/10.1016/S0952-7915(03)00104-3

Current Opinion in Immunology

11 March 2024

published in

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1 August 2017

15

1 reference

1 August 2017

5

1 reference

1 August 2017

571-577

1 reference

Complete sequence and structure of the gene for human adenosine deaminase

1 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Atomic structure of adenosine deaminase complexed with a transition-state analog: understanding catalysis and immunodeficiency mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Direct association of adenosine deaminase with a T cell activation antigen, CD26

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

A marker for neoplastic progression of human melanocytes is a cell surface ectopeptidase

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

The structure and function of CD26 in the T-cell immune response

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Enhanced insulin secretion and improved glucose tolerance in mice lacking CD26.

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

The binding site of human adenosine deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to cd26 but does not cause immune deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Clustered charged amino acids of human adenosine deaminase comprise a functional epitope for binding the adenosine deaminase complexing protein CD26/dipeptidyl peptidase IV.

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Enzymatic and extraenzymatic role of ecto-adenosine deaminase in lymphocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Metabolites from apoptotic thymocytes inhibit thymopoiesis in adenosine deaminase-deficient fetal thymic organ cultures

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

p53 expression is required for thymocyte apoptosis induced by adenosine deaminase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Induction of apoptotic program in cell-free extracts: requirement for dATP and cytochrome c

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Cytochrome c and dATP-dependent formation of Apaf-1/caspase-9 complex initiates an apoptotic protease cascade

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Adenosine-deaminase-deficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Disruption of the adenosine deaminase gene causes hepatocellular impairment and perinatal lethality in mice

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Adenosine deaminase deficiency increases thymic apoptosis and causes defective T cell receptor signaling

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Adenosine deaminase-deficient mice generated using a two-stage genetic engineering strategy exhibit a combined immunodeficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Metabolic consequences of adenosine deaminase deficiency in mice are associated with defects in alveogenesis, pulmonary inflammation, and airway obstruction

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

The use of enzyme therapy to regulate the metabolic and phenotypic consequences of adenosine deaminase deficiency in mice. Differential impact on pulmonary and immunologic abnormalities

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

4 Primary immunodeficiency mutation databases

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Hot spot mutations in adenosine deaminase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0952-7915%2803%2900104-3

7 January 2021

Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery

series ordinal

48

1 reference

https://api.crossref.org/works/10.1016/S0952-7915(03)00104-3

11 March 2024

Identifiers

1 reference

1 August 2017

1 reference