(Q37004539)

English

The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction

scientific article published on 18 May 2007

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction (English)

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

object named as

Satoshi Okada

1

0 references

author name string

Nobutsune Ishikawa

2

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Ken'ichiro Shirao

3

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Hiroshi Kawaguchi

4

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Miyuki Tsumura

5

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Yoshinori Ohno

6

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Shin'ichiro Yasunaga

7

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Motoaki Ohtsubo

8

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Yoshihiro Takihara

9

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Masao Kobayashi

10

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

language of work or name

0 references

publication date

18 May 2007

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

44

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

8

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

485-491

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597923

29 September 2017

Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features

1 reference

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29 September 2017

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597923

29 September 2017

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

1 reference

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29 September 2017

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

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29 September 2017

Immortalization in a normal foreskin fibroblast culture following transduction of cyclin A2 or cdk1 genes in retroviral vectors.

1 reference

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29 September 2017

Fever and leg pain in a 42-month-old

1 reference

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29 September 2017

Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation

1 reference

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29 September 2017

A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection

1 reference

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29 September 2017

Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597923

29 September 2017

Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597923

29 September 2017

Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597923

29 September 2017

Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597923

29 September 2017

The IFN gamma receptor: a paradigm for cytokine receptor signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597923

29 September 2017

Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597923

29 September 2017

A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597923

29 September 2017

Identification of an interferon-gamma receptor alpha chain sequence required for JAK-1 binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597923

29 September 2017

The molecular cell biology of interferon-gamma and its receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597923

29 September 2017

The regulation of immunity to Leishmania major

1 reference

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29 September 2017

Identification of a functionally important sequence in the C terminus of the interferon-gamma receptor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597923

29 September 2017

Identification of two regions within the cytoplasmic domain of the human interferon-gamma receptor required for function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597923

27 June 2018

Genetic basis of patients with bacille Calmette-Guérin osteomyelitis in Japan: identification of dominant partial interferon-gamma receptor 1 deficiency as a predominant type

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597923

4 September 2018

Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes

1 reference

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4 December 2018

Interferon-γ receptor deficiency mimicking Langerhans’ cell histiocytosis

1 reference

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4 December 2018

IL-12-deficient mice are defective in IFN gamma production and type 1 cytokine responses

1 reference

https://pubmed.ncbi.nlm.nih.gov/17513528

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical features of dominant and recessive interferon γ receptor 1 deficiencies

1 reference

https://pubmed.ncbi.nlm.nih.gov/17513528

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Viral infections in interferon-gamma receptor deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/17513528

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RecurrentMycobacterium aviumOsteomyelitis Associated With a Novel Dominant Interferon Gamma Receptor Mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17513528

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multifocal osteomyelitis caused by nontuberculous mycobacteria in patients with a genetic defect of the interferon-gamma receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/17513528

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multifocal M. intracellulare osteomyelitis in an immunocompetent child

1 reference

https://pubmed.ncbi.nlm.nih.gov/17513528

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2007.049635

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

ResearchGate publication ID

0 references

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