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Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height

Published on Aug 1, 2018in European Journal of Endocrinology5.107
路 DOI :10.1530/EJE-18-0176
Yingbo Lin6
Estimated H-index: 6
(KI: Karolinska Institutet),
Hermine A van Duyvenvoorde1
Estimated H-index: 1
(Loyola University Medical Center)
+ 7 AuthorsOlle Larsson49
Estimated H-index: 49
(KI: Karolinska Institutet)
Abstract
  • References (16)
  • Citations (3)
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References16
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#2Hongyu LiuH-Index: 2
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Increasing number of studies have shown nuclear localization of the insulin-like growth factor 1 receptor (nIGF-1R) in tumor cells and its links to adverse clinical outcome in various cancers. Any obvious cell physiological roles of nIGF-1R have, however, still not been disclosed. Previously, we reported that IGF-1R translocates to cell nucleus and modulates gene expression by binding to enhancers, provided that the receptor is SUMOylated. In this study, we constructed stable transfectants of wi...
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Uncombable hair syndrome (UHS), also known as "spun glass hair syndrome," "pili trianguli et canaliculi," or "cheveux incoiffables" is a rare anomaly of the hair shaft that occurs in children and improves with age. UHS is characterized by dry, frizzy, spangly, and often fair hair that is resistant to being combed flat. Until now, both simplex and familial UHS-affected case subjects with autosomal-dominant as well as -recessive inheritance have been reported. However, none of these case subjects ...
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#1Dudi Warsito (KI: Karolinska Institutet)H-Index: 5
#2Yingbo LinH-Index: 4
Last. Olle LarssonH-Index: 49
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// Dudi Warsito 1 , Yingbo Lin 1 , Ann-Christin Gnirck 1 , Bita Sehat 1 , Olle Larsson 1 1 Department of Oncology-Pathology, Cancer Center Karolinska, Karolinska Institutet, SE-171 76 Stockholm, Sweden Correspondence to: Dudi Warsito, email: dudi.warsito@ki.se Keywords: IGF-1R, phosphorylation, histone, SNAI2, Brg1 Received: July 28, 2015 Accepted: April 26, 2016 Published: June 02, 2016 ABSTRACT The insulin-like growth factor-1 receptor (IGF-1R) is a receptor tyrosine kinase that has crucial ro...
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Epigenetic mechanisms involved in the establishment of lung epithelial cell lineage identities during development are largely unknown. Here, we explored the role of the histone methyltransferase Ezh2 during lung lineage determination. Loss of Ezh2 in the lung epithelium leads to defective lung formation and perinatal mortality. We show that Ezh2 is crucial for airway lineage specification and alveolarization. Using optical projection tomography imaging, we found that branching morphogenesis is a...
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The insulin-like growth factor 1 receptor (IGF-1R) has been considered an important therapeutic target in Ewing sarcoma (ES), generating a need to identify the subset of patients most likely to respond to IGF-1R inhibitors. We assessed IGF-1R expression in ES cell lines and patient tumors to understand the variable clinical responses to anti-IGF-1R therapy. Using ligand-binding displacement, we measured between 13,000 and 40,000 receptors per cell in ES cell lines. We used ELISA to quantify IGF-...
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Homozygous mutation of the IGF1 receptor gene in a patient with severe preand postnatal growth failure and congenital malformations Marie-Helene Gannage-Yared*, Jurgen Klammt*, Eliane Chouery, Sandra Corbani, Hala Megarbane, Joelle Abou Ghoch, Nancy Choucair, Roland Pfaffle and Andre Megarbane Service d鈥橢ndocrinologie, Hotel-Dieu de France Hospital, Beirut, Lebanon, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany, Unite de Genetique Medicale et Laboratoire Associe ...
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Background: The paradox of normal growth despite a lack of growth hormone (GH) is an unexplained phenomenon described in some pathological (sellar, suprasellar, and hypothalamic disorders) and overgrowth syndromes. It has been suggested that the paradoxical growth is due to other GH variants, GH-like moieties, prolactin, insulin, insulin-like growth factors (IGFs), and unidentified serum factors or growth mechanisms. The objective of this study was to determine the mechanism underlying this norm...
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