Identification of the first patient with a confirmed mutation of the JAK-STAT system. (Q36028348)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15688233%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

review article

1 reference

title

Identification of the first patient with a confirmed mutation of the JAK-STAT system (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15688233%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15688233%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1

Ron G Rosenfeld

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15688233%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

12

Vivian Hwa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15688233%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

author name string

Eric Kofoed

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15688233%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Caroline Buckway

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15688233%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Brian Little

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15688233%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Katie A Woods

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15688233%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Junko Tsubaki

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15688233%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Katherine A Pratt

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15688233%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Liliana Bezrodnik

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15688233%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Alejandro Tepper

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15688233%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Juan J Heinrich

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15688233%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

publication date

2 February 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15688233%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15688233%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15688233%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15688233%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

page(s)

303-305

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15688233%20AND%20SRC:MED&resulttype=core&format=json

Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism

8 January 2020

cites work

1 reference

12 December 2020

Toward a molecular basis for idiopathic short stature

1 reference

12 December 2020

Activation of the signal transducers and activators of transcription signaling pathway by growth hormone (GH) in skin fibroblasts from normal and GH binding protein-positive Laron Syndrome children

1 reference

12 December 2020

Growth hormone (GH) insensitivity due to primary GH receptor deficiency

1 reference

12 December 2020

A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein

1 reference

12 December 2020

Stat5a and Stat5b proteins have essential and nonessential, or redundant, roles in cytokine responses

1 reference

12 December 2020

Requirement of STAT5b for sexual dimorphism of body growth rates and liver gene expression

1 reference

12 December 2020

Insulin-like growth factors and the basis of growth

1 reference

12 December 2020

Genetic pituitary dwarfism with high serum concentation of growth hormone--a new inborn error of metabolism?

1 reference

12 December 2020

Abnormal GH receptor signaling in children with idiopathic short stature

1 reference

12 December 2020

A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization

1 reference

12 December 2020

The structure of human STAT5A and B genes reveals two regions of nearly identical sequence and an alternative tissue specific STAT5B promoter

1 reference

12 December 2020

Transcriptional regulation of insulin-like growth factor-I by interferon-gamma requires STAT-5b

1 reference

12 December 2020

Growth hormone insensitivity associated with a STAT5b mutation

1 reference

12 December 2020

10.1007/S00467-004-1678-7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15688233%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference