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.-Reference-Cited by-同舟云学术

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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.

Published:1994-03 Issue:6 Volume:13 Page:1386-1395
ISSN:0261-4189
Container-title:The EMBO Journal
language:en
Short-container-title:The EMBO Journal

Author:

Duquesnoy P.,Sobrier M.L.,Duriez B.,Dastot F.,Buchanan C.R.,Savage M.O.,Preece M.A.,Craescu C.T.,Blouquit Y.,Goossens M.

Publisher

Wiley

Subject

General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology,Molecular Biology,General Neuroscience

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/j.1460-2075.1994.tb06392.x/fullpdf

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1. Short stature related to Growth Hormone Insensitivity (GHI) in childhood;Frontiers in Endocrinology;2023-03-15

2. Identification of nephronectin as a new target for IGF1 action;European Journal of Cancer;2020-12

3. Genome-Wide Profiling of Laron Syndrome Patients Identifies Novel Cancer Protection Pathways;Cells;2019-06-15

4. A case report and literature review of monoallelic mutation of GHR;Journal of Pediatric Endocrinology and Metabolism;2019-04-24

5. Computational Investigation of Growth Hormone Receptor Trp169Arg Heterozygous Mutation in a Child With Short Stature;Journal of Cellular Biochemistry;2017-06-09

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