Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles
about
Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE reviewProtein misfolding and degradation in genetic diseases.Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients.polyethylene glycol-conjugated adenosine deaminase (ADA) therapy provides temporary immune reconstitution to a child with delayed-onset ADA deficiencySevere combined immunodeficiency--molecular pathogenesis and diagnosis.Adenosine deaminase enhances the immunogenicity of human dendritic cells from healthy and HIV-infected individuals.Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency.Somatic mosaicism caused by monoallelic reversion of a mutation in T cells of a patient with ADA-SCID and the effects of enzyme replacement therapy on the revertant phenotype.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.Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans.Altered intracellular and extracellular signaling leads to impaired T-cell functions in ADA-SCID patients.Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletionSevere combined immunodeficiences: new and old scenarios.Inborn errors of metabolism underlying primary immunodeficiencies.Expanded newborn screening by mass spectrometry: New tests, future perspectives.Severe combined immunodeficiency--an update.Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.Cell surface adenosine deaminase binds and stimulates plasminogen activation on 1-LN human prostate cancer cells.Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient.A map of human circular RNAs in clinically relevant tissues.Clinical characteristics and genetic profiles of 44 patients with severe combined immunodeficiency (SCID): report from Shanghai, China (2004-2011).Clustered charged amino acids of human adenosine deaminase comprise a functional epitope for binding the adenosine deaminase complexing protein CD26/dipeptidyl peptidase IV.Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacement.Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis.Adenosine deaminase deficiency: a review.Inborn errors of purine metabolism: clinical update and therapies.Heterozygous Mutation in Adenosine Deaminase Gene in a Patient With Severe Lymphopenia Following Corticosteroid Treatment of Autoimmune Hemolytic AnemiaADA-SCID with ‘WAZA-ARI’ mutations that synergistically abolished ADA protein stabilityLarge differences in proportions of harmful and benign amino acid substitutions between proteins and diseases
P2860
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P2860
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles
description
1998 nî lūn-bûn
@nan
1998 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Adenosine deaminase deficiency ...... activity of 29 mutant alleles
@ast
Adenosine deaminase deficiency ...... activity of 29 mutant alleles
@en
Adenosine deaminase deficiency ...... activity of 29 mutant alleles
@nl
type
label
Adenosine deaminase deficiency ...... activity of 29 mutant alleles
@ast
Adenosine deaminase deficiency ...... activity of 29 mutant alleles
@en
Adenosine deaminase deficiency ...... activity of 29 mutant alleles
@nl
prefLabel
Adenosine deaminase deficiency ...... activity of 29 mutant alleles
@ast
Adenosine deaminase deficiency ...... activity of 29 mutant alleles
@en
Adenosine deaminase deficiency ...... activity of 29 mutant alleles
@nl
P2093
P2860
P3181
P356
P1476
Adenosine deaminase deficiency ...... activity of 29 mutant alleles
@en
P2093
F X Arredondo-Vega
I Santisteban
M S Hershfield
P2860
P304
P3181
P356
10.1086/302054
P407
P577
1998-10-01T00:00:00Z