(Q34098712)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11668610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

review article

1 reference

title

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11668610%20AND%20SRC:MED&resulttype=core&format=json

Geneviève de Saint Basile

13 November 2019

author

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11668610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

Mauno Vihinen

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11668610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

author name string

L D Notarangelo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11668610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

P Mella

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11668610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

A Jones

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11668610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

G Savoldi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11668610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

T Cranston

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11668610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

R F Schumacher

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11668610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

publication date

1 October 2001

1 reference

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13 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11668610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

volume

18

1 reference

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13 November 2019

issue

4

1 reference

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13 November 2019

page(s)

255-263

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11668610%20AND%20SRC:MED&resulttype=core&format=json

Inhibition of IL-2-induced Jak-STAT signaling by glucocorticoids

13 November 2019

cites work

1 reference

Naphthyl ketones: a new class of Janus kinase 3 inhibitors

21 January 2018

1 reference

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

21 January 2018

1 reference

Primary immunodeficiency diseases due to defects in lymphocytes

21 January 2018

1 reference

Restoration of lymphocyte function in Janus kinase 3-deficient mice by retroviral-mediated gene transfer

21 January 2018

1 reference

Virus-specific immunity after gene therapy in a murine model of severe combined immunodeficiency

21 January 2018

1 reference

Autosomal SCID caused by a point mutation in the N-terminus of Jak3: mapping of the Jak3-receptor interaction domain

21 January 2018

1 reference

In vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mediated gene transduction

21 January 2018

1 reference

Not just another meeting: the coming of age of JAKs and STATs

21 January 2018

1 reference

Complex effects of naturally occurring mutations in the JAK3 pseudokinase domain: evidence for interactions between the kinase and pseudokinase domains

21 January 2018

1 reference

A new protein containing an SH2 domain that inhibits JAK kinases

21 January 2018

1 reference

In utero hematopoietic stem cell transplantation. A status report

21 January 2018

1 reference

An alternative pathway for STAT activation that is mediated by the direct interaction between JAK and STAT.

21 January 2018

1 reference

21 January 2018

1 reference

Molecular cloning of L-JAK, a Janus family protein-tyrosine kinase expressed in natural killer cells and activated leukocytes

21 January 2018

1 reference

Janus kinases in interleukin-2-mediated signaling: JAK1 and JAK3 are differentially regulated by tyrosine phosphorylation

21 January 2018

1 reference

JAK/STAT signaling by cytokine receptors

21 January 2018

1 reference

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

21 January 2018

1 reference

Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain

21 January 2018

1 reference

Constitutively Activated Jak-STAT Pathway in T Cells Transformed with HTLV-I

21 January 2018

1 reference

Three distinct domains of SSI-1/SOCS-1/JAB protein are required for its suppression of interleukin 6 signaling

21 January 2018

1 reference

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

21 January 2018

1 reference

Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism

21 January 2018

1 reference

Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients

21 January 2018

1 reference

Proliferation of adult T cell leukemia/lymphoma cells is associated with the constitutive activation of JAK/STAT proteins

21 January 2018

1 reference

STAM, signal transducing adaptor molecule, is associated with Janus kinases and involved in signaling for cell growth and c-myc induction

21 January 2018

1 reference

T-cell receptors for cytokines: targets for immunotherapy of leukemia/lymphoma

21 January 2018

1 reference

In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDXI).

21 January 2018

1 reference

The CIS/JAB family: novel negative regulators of JAK signaling pathways

21 January 2018

1 reference

Distinct tyrosine phosphorylation sites in JAK3 kinase domain positively and negatively regulate its enzymatic activity

21 January 2018

1 reference

Molecular Modeling of the Jak3 Kinase Domains and Structural Basis for Severe Combined Immunodeficiency

21 January 2018

1 reference

European experience of bone-marrow transplantation for severe combined immunodeficiency

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Prenatal diagnosis of JAK3 deficient SCID

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

4 Primary immunodeficiency mutation databases

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.1188

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11668610%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

1 reference