(Q33907756)

English

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

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scholarly article

1 reference

Europe PubMed Central

29 July 2017

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 (English)

1 reference

Europe PubMed Central

29 July 2017

combined immunodeficiency

1 reference

based on heuristic

inferred from title

author name string

Santisteban I

1

1 reference

Europe PubMed Central

29 July 2017

Arredondo-Vega FX

2

1 reference

Europe PubMed Central

29 July 2017

Kelly S

3

1 reference

Europe PubMed Central

29 July 2017

Mary A

4

1 reference

Europe PubMed Central

29 July 2017

Fischer A

5

1 reference

Europe PubMed Central

29 July 2017

Hummell DS

6

1 reference

Europe PubMed Central

29 July 2017

Lawton A

7

1 reference

Europe PubMed Central

29 July 2017

Sorensen RU

8

1 reference

Europe PubMed Central

29 July 2017

Stiehm ER

9

1 reference

Europe PubMed Central

29 July 2017

Uribe L

10

1 reference

Europe PubMed Central

29 July 2017

language of work or name

0 references

publication date

1 November 1993

1 reference

Europe PubMed Central

29 July 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

29 July 2017

92

1 reference

Europe PubMed Central

29 July 2017

2291-2302

1 reference

Europe PubMed Central

29 July 2017

5

1 reference

Europe PubMed Central

29 July 2017

Enzyme replacement therapy with polyethylene glycol-adenosine deaminase in adenosine deaminase deficiency: overview and case reports of three patients, including two now receiving gene therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Overview of biochemical abnormalities and molecular genetics of adenosine deaminase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Sequence of human adenosine deaminase cDNA including the coding region and a small intron

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Consequences of frameshift mutations at the immunoglobulin heavy chain locus of the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

The CpG dinucleotide and human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Adenosine deaminase gene expression is regulated posttranscriptionally in the nucleus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Complete sequence and structure of the gene for human adenosine deaminase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Splicing of messenger RNA precursors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Premature translation termination mediates triosephosphate isomerase mRNA degradation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Exon definition may facilitate splice site selection in RNAs with multiple exons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Adenosine deaminase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Deduced amino acid sequence of Escherichia coli adenosine deaminase reveals evolutionarily conserved amino acid residues: implications for catalytic function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Biochemical Mechanisms of Constitutive and Regulated Pre-mRNA Splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Antibody responses to bacteriophage phi X174 in patients with adenosine deaminase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Identification of two new missense mutations (R156C and S291L) in two ADA− SCID patients unusual for response to therapy with partial exchange transfusions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Adenosine deaminase deficiency: Frequency and comparative pathology in autosomally recessive severe combined immunodeficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Interference of nonsense mutations with eukaryotic messenger RNA stability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Molecular basis of base substitution hotspots in Escherichia coli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

In vivo inactivation of erythrocyte S-adenosylhomocysteine hydrolase by 2'-deoxyadenosine in adenosine deaminase-deficient patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Apparent suicide inactivation of human lymphoblast S-adenosylhomocysteine hydrolase by 2'-deoxyadenosine and adenine arabinoside. A basis for direct toxic effects of analogs of adenosine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

5 July 2018

Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

29 October 2018

Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not othe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288410

29 October 2018

Probable autoimmune thyroid disease and combined immunodeficiency disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8227344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and quantitation of adenine deoxynucleotides in erythrocytes of a patient with adenosine deaminase deficiency and severe combined immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8227344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The effect of adenosine on mitogenesis of ADA-deficient lymphocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8227344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unusual splice sites revealed by mutagenic inactivation of an authentic splice site of the rabbit β-globin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8227344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8227344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A phenotypically normal revertant of an adenosine deaminase-deficient lymphoblast cell line

1 reference

https://pubmed.ncbi.nlm.nih.gov/8227344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dipyridamole and intravenous deoxycytidine therapy in a patient with adenosine deaminase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8227344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Normal and mutant human β-globin pre-mRNAs are faithfully and efficiently spliced in vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/8227344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deoxycytidine therapy in two patients with adenosine deaminase deficiency and severe immunodeficiency disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8227344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adenosine deaminase deficiency with late onset of recurrent infections: response to treatment with polyethylene glycol-modified adenosine deaminase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8227344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leukocyte adhesion deficiency. Aberrant splicing of a conserved integrin sequence causes a moderate deficiency phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/8227344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple, rapid method for the purification of poly A+ RNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/8227344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Treatment of adenosine deaminase deficiency with adenosine deaminase combined with polyethylene glycol

1 reference

https://pubmed.ncbi.nlm.nih.gov/8227344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Splice site choice and splicing efficiency are positively influenced by pre-mRNA intramolecular base pairing in yeast

1 reference

https://pubmed.ncbi.nlm.nih.gov/8227344

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based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI116833

1 reference

Europe PubMed Central

29 July 2017

1 reference

Europe PubMed Central

29 July 2017

1 reference

Europe PubMed Central

29 July 2017

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