(Q53628977)

English

Characterization of a novel nonsense mutation in the interleukin-7 receptor alpha gene in a Korean patient with severe combined immunodeficiency.

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15615257%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Characterization of a novel nonsense mutation in the interleukin-7 receptor alpha gene in a Korean patient with severe combined immunodeficiency (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15615257%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

severe combined immunodeficiency

1 reference

based on heuristic

inferred from title

6

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15615257%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

author name string

Eun-Kyeong Jo

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15615257%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Hoon Kook

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15615257%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Toru Uchiyama

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15615257%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Ikuko Hakozaki

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15615257%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Young-Ok Kim

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15615257%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Jeong-kyu Park

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15615257%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Hirokazu Kanegane

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15615257%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Shigeru Tsuchiya

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15615257%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Satoru Kumaki

10

1 reference

Europe PubMed Central

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6 January 2020

publication date

1 November 2004

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Europe PubMed Central

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6 January 2020

International Journal of Hematology

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15615257%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

80

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Europe PubMed Central

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6 January 2020

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15615257%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

332-335

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15615257%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

The interleukin-2 receptor gamma chain: its role in the multiple cytokine receptor complexes and T cell development in XSCID

1 reference

https://pubmed.ncbi.nlm.nih.gov/15615257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15615257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15615257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15615257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning of the gamma chain of the human IL-2 receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/15615257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)

1 reference

https://pubmed.ncbi.nlm.nih.gov/15615257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15615257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RAG mutations in human B cell-negative SCID.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15615257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interleukin-7R alpha mRNA expression increases as stem cells differentiate into T and B lymphocyte progenitors.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15615257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of anti-herpes simplex virus antibody-producing B cells in a patient with an atypical RAG1 immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15615257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reversible defects in natural killer and memory CD8 T cell lineages in interleukin 15-deficient mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/15615257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15615257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/15615257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A critical role for IL-21 in regulating immunoglobulin production

1 reference

https://pubmed.ncbi.nlm.nih.gov/15615257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional role of interleukin-4 (IL-4) and IL-7 in the development of X-linked severe combined immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15615257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

IL-15 receptor maintains lymphoid homeostasis by supporting lymphocyte homing and proliferation

1 reference

https://pubmed.ncbi.nlm.nih.gov/15615257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15615257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary immunodeficiency diseases. Report of an IUIS Scientific Committee. International Union of Immunological Societies

1 reference

https://pubmed.ncbi.nlm.nih.gov/15615257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15615257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe combined immunodeficiencies (SCID)

1 reference

https://pubmed.ncbi.nlm.nih.gov/15615257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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