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Severe Growth Deficiency is Associated with STAT5b Mutations that Disrupt Protein Folding and Activity

  • Published:2013-01-01 Issue:1 Volume:27 Page:150-161
  • ISSN:0888-8809
  • Container-title:Molecular Endocrinology
  • language:en
  • Short-container-title:

Author:

Varco-Merth Benjamin1,Feigerlová Eva2,Shinde Ujwal1,Rosenfeld Ron G.2,Hwa Vivian2,Rotwein Peter1

Affiliation:

1. Department of Biochemistry and Molecular Biology (B.V.-M., U.S., P.R.) Oregon Health & Science University, Portland, Oregon 97239-3098

2. Department of Pediatrics (E.F., R.G.R., V.H.), Oregon Health & Science University, Portland, Oregon 97239-3098

Publisher

The Endocrine Society

Subject

Endocrinology,Molecular Biology,General Medicine

Reference51 articles.

1. Recent advances in growth hormone signaling.;Lanning;Rev Endocr Metab Disord,2006

2. The growth hormone cascade and its role in mammalian growth.;Rosenfeld;Horm Res,2009

3. Endocrinology of growth.;Rosenfeld;Nestle Nutr Workshop Ser Pediatr Program,2010

4. The insulin-like growth factors and growth disorders of childhood.;Backeljauw;Endocrinol Metab Clin North Am,2012

5. Clinical considerations in using growth hormone therapy in growth hormone deficiency.;Ranke;Endocr Dev,2010

Cited by 15 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic causes of growth hormone insensitivity beyond GHR;Reviews in Endocrine and Metabolic Disorders;2020-10-08

2. A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI);Growth Hormone & IGF Research;2020-02

3. Structural Implications of STAT3 and STAT5 SH2 Domain Mutations;Cancers;2019-11-08

4. Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain;Journal of Allergy and Clinical Immunology;2019-01

5. Abnormal Body Size and Proportion;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2019
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