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Literature DB >> 15688233

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

Ron G Rosenfeld¹, Eric Kofoed, Caroline Buckway, Brian Little, Katie A Woods, Junko Tsubaki, Katherine A Pratt, Liliana Bezrodnik, Hector Jasper, Alejandro Tepper, Juan J Heinrich, Vivian Hwa.

Abstract

Growth hormone insensitivity (GHI) has been attributable, classically, to mutations in the gene for the GH receptor. After binding to the GH receptor, GH initiates signal transduction through a number of pathways, including the JAK-STAT pathway. We describe the first patient reported with a mutation in the gene for STAT5b, a protein critical for the transcriptional regulation of insulin-like growth factor-I.

Entities: Gene Species

Mesh：

Substances：

Year: 2005 PMID： 15688233 DOI： 10.1007/s00467-004-1678-7

Source DB: PubMed Journal: Pediatr Nephrol ISSN： 0931-041X Impact factor: 3.714

14 in total

1. Insulin-like growth factors and the basis of growth.

Authors: Ron G Rosenfeld
Journal: N Engl J Med Date: 2003-12-04 Impact factor: 91.245

Review 2. Toward a molecular basis for idiopathic short stature.

Authors: Ron G Rosenfeld; Vivian Hwa
Journal: J Clin Endocrinol Metab Date: 2004-03 Impact factor: 5.958

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

Authors: P J Godowski; D W Leung; L R Meacham; J P Galgani; R Hellmiss; R Keret; P S Rotwein; J S Parks; Z Laron; W I Wood
Journal: Proc Natl Acad Sci U S A Date: 1989-10 Impact factor: 11.205

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

Authors: G B Udy; R P Towers; R G Snell; R J Wilkins; S H Park; P A Ram; D J Waxman; H W Davey
Journal: Proc Natl Acad Sci U S A Date: 1997-07-08 Impact factor: 11.205

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

Authors: K A Woods; N C Fraser; M C Postel-Vinay; M O Savage; A J Clark
Journal: J Clin Endocrinol Metab Date: 1996-05 Impact factor: 5.958

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

Authors: Z Laron; A Pertzelan; S Mannheimer
Journal: Isr J Med Sci Date: 1966 Mar-Apr

7. 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.

Authors: J S Freeth; C M Silva; A J Whatmore; P E Clayton
Journal: Endocrinology Date: 1998-01 Impact factor: 4.736

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

Authors: S Teglund; C McKay; E Schuetz; J M van Deursen; D Stravopodis; D Wang; M Brown; S Bodner; G Grosveld; J N Ihle
Journal: Cell Date: 1998-05-29 Impact factor: 41.582

Review 9. Growth hormone (GH) insensitivity due to primary GH receptor deficiency.

Authors: R G Rosenfeld; A L Rosenbloom; J Guevara-Aguirre
Journal: Endocr Rev Date: 1994-06 Impact factor: 19.871

10. Abnormal GH receptor signaling in children with idiopathic short stature.

Authors: M Salerno; B Balestrieri; E Matrecano; A Officioso; R G Rosenfeld; S Di Maio; G Fimiani; M V Ursini; C Pignata
Journal: J Clin Endocrinol Metab Date: 2001-08 Impact factor: 5.958

4 in total

1. JAK2, but not Src family kinases, is required for STAT, ERK, and Akt signaling in response to growth hormone in preadipocytes and hepatoma cells.

Authors: Hui Jin; Nathan J Lanning; Christin Carter-Su
Journal: Mol Endocrinol Date: 2008-05-22