(Q35889409)

English

Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.

scientific article published in May 1994

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26 October 2019

Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency (English)

1 reference

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26 October 2019

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F X Arredondo-Vega

1

1 reference

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26 October 2019

I Santisteban

2

1 reference

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26 October 2019

S Kelly

3

1 reference

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26 October 2019

C M Schlossman

4

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26 October 2019

D T Umetsu

5

1 reference

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26 October 2019

M S Hershfield

6

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26 October 2019

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publication date

1 May 1994

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26 October 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

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26 October 2019

54

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26 October 2019

5

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26 October 2019

820-830

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8178821%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

A point mutation in the 5' splice region of intron 7 causes a deletion of exon 7 in adenosine deaminase mRNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 July 2018

Mutation of the conserved first nucleotide of a group II intron from yeast mitochondrial DNA reduces the rate but allows accurate splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 July 2018

Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 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=1918276

11 July 2018

A catalogue of splice junction sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 July 2018

Organization and expression of eucaryotic split genes coding for proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 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=1918276

11 July 2018

Cloning of cDNA sequences of human adenosine deaminase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 July 2018

Role of the 3' splice site consensus sequence in mammalian pre-mRNA splicing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 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=1918276

11 July 2018

Intron sequences involved in lariat formation during pre-mRNA splicing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 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=1918276

11 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=1918276

11 July 2018

Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 July 2018

Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 July 2018

Adenosine deaminase and purine nucleoside phosphorylase deficiencies: evaluation of therapeutic interventions in eight patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 July 2018

A U1 snRNA:pre-mRNA base pairing interaction is required early in yeast spliceosome assembly but does not uniquely define the 5' cleavage site.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 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=1918276

11 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=1918276

11 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=1918276

11 July 2018

Normal and mutant human adenosine deaminase genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 July 2018

A PCR artifact: generation of heteroduplexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 July 2018

Sequence of full length cDNA for human S-adenosylhomocysteine hydrolase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 July 2018

On the origin of RNA splicing and introns

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 July 2018

Exon mutations uncouple 5' splice site selection from U1 snRNA pairing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 July 2018

DNA recombination during PCR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 July 2018

A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 July 2018

DNA nicking favors PCR recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 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=1918276

11 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=1918276

11 July 2018

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 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=1918276

11 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=1918276

11 July 2018

In Vivo and in Vitro Effects of Thymosin and Adenosine Deaminase on Adenosine-Deaminase-Deficient Lymphocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

11 July 2018

A mutational analysis of the polypyrimidine tract of introns. Effects of sequence differences in pyrimidine tracts on splicing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918276

24 September 2018

Heterogeneity of phenotype in two siblings 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=1918276

24 September 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=1918276

14 November 2018

Adult presentation of adenosine deaminase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8178821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity

1 reference

https://pubmed.ncbi.nlm.nih.gov/8178821

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/8178821

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/8178821

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/8178821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A minimal intron length but no specific internal sequence is required for splicing the large rabbit beta-globin intron

1 reference

https://pubmed.ncbi.nlm.nih.gov/8178821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A point mutation in the conserved hexanucleotide at a yeast 5' splice junction uncouples recognition, cleavage, and ligation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8178821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular consequences of specific intron mutations on yeast mRNA splicing in vivo and in vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/8178821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Stepwise assembly of a pre-mRNA splicing complex requires U-snRNPs and specific intron sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/8178821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Probable autoimmune thyroid disease and combined immunodeficiency disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8178821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/8178821

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/8178821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The organization of 3' splice-site sequences in mammalian introns

1 reference

https://pubmed.ncbi.nlm.nih.gov/8178821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Consistent cytogenetic aberrations in hepatoblastoma: a common pathway of genetic alterations in embryonal liver and skeletal muscle malignancies?

1 reference

https://pubmed.ncbi.nlm.nih.gov/8178821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Trisomy 2 and 20 in two hepatoblastomas

1 reference

https://pubmed.ncbi.nlm.nih.gov/8178821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8178821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

5' cleavage site in eukaryotic pre-mRNA splicing is determined by the overall 5' splice region, not by the conserved 5' GU

1 reference

https://pubmed.ncbi.nlm.nih.gov/8178821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Signals for the selection of a splice site in pre-mRNA. Computer analysis of splice junction sequences and like sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/8178821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutational analysis of spliceosome assembly: evidence for splice site collaboration during spliceosome formation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8178821

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/8178821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8178821%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8178821%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

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