Somatic cell genetics of adenosine deaminase expression and severe combined immunodeficiency disease in humans (Q36398742)

14 August 2017

Somatic cell genetics of adenosine deaminase expression and severe combined immunodeficiency disease in humans (English)

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severe combined immunodeficiency

14 August 2017

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G Koch

1

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14 August 2017

T B Shows

series ordinal

2

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14 August 2017

language of work or name

English

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publication date

1 July 1980

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Proceedings of the National Academy of Sciences of the United States of America

14 August 2017

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14 August 2017

77

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14 August 2017

7

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14 August 2017

4211-4215

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Two human X-autosome translocations identified by autoradiography and fluorescence

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

Genetics of human-mouse somatic cell hybrids: linkage of human genes for lactate dehydrogenase-A and esterase-A 4

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

Heterogeneity for adenosine deaminase deficiency: Expression of the enzyme in cultured skin fibroblasts and amniotic fluid cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

Conversion of human erythrocyte-adenosine deaminase activity to different tissue-specific isozymes. Evidence for a common catalytic unit

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

Characterization of residual enzyme activity in fibroblasts from patients with adenosine deaminase deficiency and combined immunodeficiency: evidence for a mutant enzyme

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

A normal level of adenosine deaminase activity in the red cell lysates of carriers and patients with severe combined immunodeficiency disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

Purification and subunit structure of adenosine deaminase from human kidney

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

Electrophoretic abnormalities of lysosomal enzymes in mucolipidosis fibroblast lines

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

Mannosidosis: assignment of the lysosomal alpha-mannosidase B gene to chromosome 19 in man

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

A gene on human chromosome 6 functions in assembly of tissue-specific adenosine deaminase isozymes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

Expression of human adenosine deaminase after fusion of adenosine deaminase-deficient cells with mouse fibroblasts

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

Confirmation of the assignment of the locus determining ADA to chromosome 20 in man: data on possible synteny of <i>ADA </i>and <i>ITP </i>in human-Chinese hamster somatic cell hybrids

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

Human gene mapping using an X/autosome translocation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

Adenosine deaminase isozymes in human tissues

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

Partial purification and properties of the common inherited forms of adenosine deaminase from human erythrocytes

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

An (X;3) translocation, balanced, 46 chromosomes. Repository identification No. GM-194

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

Severe Combined Immunodeficiency and Adenosine Deaminase Deficiency

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

Improved techniques for the induction of mammalian cell hybridization by polyethylene glycol

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

The catalog of human genes and chromosome assignments. A report on human genetic nomenclature and genes that have been mapped in man

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

Human adenosine deaminase binding protein. Assay, purification, and properties

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

Several of the adenosine deaminase isozymes are glycoproteins

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

Alterations in isozymes of adenosine deaminase during stimulation of human peripheral blood lymphocytes.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=349801

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

21 September 2018

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12 December 2020

Multiple forms of human adenosine deaminase. II. Isolation and properties of a conversion factor from human lung

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12 December 2020

Assignment of a gene for adenosine deaminase to human chromosome 20

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12 December 2020

Mapping chromosomes 1 and 2 employing a 1/2 translocation in somatic cell hybrids

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12 December 2020

Purification of human erythrocyte adenosine deaminase by affinity column chromatography

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12 December 2020

Assignment of hexosaminidase-B to chromosome 5, its segregation after diphtheria toxin selection, and the linkage of hexosaminidase-A, mannose phosphate isomerase, and pyruvate kinase (M2)

1 reference

12 December 2020

Assignment of inosine triphosphatase gene to gorilla chromosome 13 and to human chromosome 20 in primate-rodent somatic cell hybrids

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12 December 2020

Correction of human mucolipidosis II enzyme abnormalities in somatic cell hybrids

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12 December 2020

Assignment of the beta-glucuronidase structural gene to the pter leads to q22 region of chromosome 7 in man

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12 December 2020

Identifiers

DOI

10.1073/PNAS.77.7.4211

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14 August 2017

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14 August 2017

PubMed publication ID

6933468

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