Literature DB >> 27234692

A novel dominant negative mutation in the intracellular domain of GHR is associated with growth hormone insensitivity.

Masaki Takagi1,2, Hiroyuki Shinohara2, Yuka Nagashima1,2, Yukihiro Hasegawa2, Satoshi Narumi1, Tomonobu Hasegawa3.   

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Year:  2016        PMID： 27234692     DOI： 10.1111/cen.13116

Source DB:  PubMed          Journal:  Clin Endocrinol (Oxf)        ISSN： 0300-0664            Impact factor:   3.478


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  6 in total

Review 1.  Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.

Authors:  Helen L Storr; Sumana Chatterjee; Louise A Metherell; Corinne Foley; Ron G Rosenfeld; Philippe F Backeljauw; Andrew Dauber; Martin O Savage; Vivian Hwa
Journal:  Endocr Rev       Date:  2019-04-01       Impact factor: 19.871

2.  Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency.

Authors:  Kanimozhi Vairamani; Lina Merjaneh; Paula Casano-Sancho; Merve Emecen Sanli; Alessia David; Louise A Metherell; Martin O Savage; Jaime Sánchez Del Pozo; Philippe F Backeljauw; Ron G Rosenfeld; Javier Aisenberg; Andrew Dauber; Vivian Hwa
Journal:  J Endocr Soc       Date:  2017-03-08

3.  Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.

Authors:  Jürgen Klammt; David Neumann; Evelien F Gevers; Shayne F Andrew; I David Schwartz; Denise Rockstroh; Roberto Colombo; Marco A Sanchez; Doris Vokurkova; Julia Kowalczyk; Louise A Metherell; Ron G Rosenfeld; Roland Pfäffle; Mehul T Dattani; Andrew Dauber; Vivian Hwa
Journal:  Nat Commun       Date:  2018-05-29       Impact factor: 14.919

Review 4.  Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2.

Authors:  Vivian Hwa
Journal:  Mol Cell Endocrinol       Date:  2020-10-27       Impact factor: 4.102

Review 5.  Genetic causes of growth hormone insensitivity beyond GHR.

Authors:  Vivian Hwa; Masanobu Fujimoto; Gaohui Zhu; Wen Gao; Corinne Foley; Meenasri Kumbaji; Ron G Rosenfeld
Journal:  Rev Endocr Metab Disord       Date:  2020-10-08       Impact factor: 6.514

6.  Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.

Authors:  Afiya Andrews; Avinaash Maharaj; Emily Cottrell; Sumana Chatterjee; Pratik Shah; Louise Denvir; Katja Dumic; Artur Bossowski; Talat Mushtaq; Rade Vukovic; Mohamed Didi; Nick Shaw; Louise A Metherell; Martin O Savage; Helen L Storr
Journal:  J Clin Endocrinol Metab       Date:  2021-10-21       Impact factor: 5.958
  6 in total

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