Zobrazeno 1 - 10
of 573
pro vyhledávání: '"Ron G. RosenfeLd"'
Autor:
Werner F. Blum, Jürgen Klammt, Serge Amselem, Heike M. Pfäffle, Marie Legendre, Marie-Laure Sobrier, Marie-Pierre Luton, Christopher J. Child, Christine Jones, Alan G. Zimmermann, Charmian A. Quigley, Gordon B. Cutler, Jr, Cheri L. Deal, Jan Lebl, Ron G. Rosenfeld, John S. Parks, Roland W. Pfäffle
Publikováno v:
EBioMedicine, Vol 36, Iss , Pp 390-400 (2018)
Background: Pituitary development and GH secretion are orchestrated by multiple genes including GH1, GHRHR, GLI2, HESX1, LHX3, LHX4, PROP1, POU1F1, and SOX3. We aimed to assess their mutation frequency and clinical relevance in children with severe G
Externí odkaz:
https://doaj.org/article/eb38d45a2af84fb1a420e9f01ae4ca4c
Autor:
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
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-10 (2018)
Severe growth hormone insensitivity syndrome (GHIS) with immunodeficiency is caused by autosomal recessive mutations in STAT5B. Here the authors report heterozygous STAT5B mutations with dominant-negative effects, causing mild GHIS without immune def
Externí odkaz:
https://doaj.org/article/2f6935ea40d3432bb5ef0a1b2cc1c995
Autor:
Vicente Barrios, Julie A. Chowen, Álvaro Martín-Rivada, Santiago Guerra-Cantera, Jesús Pozo, Shoshana Yakar, Ron G. Rosenfeld, Luis A. Pérez-Jurado, Juan Suárez, Jesús Argente
Publikováno v:
Cells, Vol 10, Iss 12, p 3576 (2021)
The growth hormone (GH)/insulin-like growth factor (IGF) axis plays fundamental roles during development, maturation, and aging. Members of this axis, composed of various ligands, receptors, and binding proteins, are regulated in a tissue- and time-s
Externí odkaz:
https://doaj.org/article/7137f6b70c424230a9041cc9a0718ec4
Publikováno v:
Frontiers in Endocrinology, Vol 2 (2011)
Human genetic defects in the growth hormone (GH) –IGF-I axis affecting the IGF system present with growth failure as their principal clinical feature. This is usually associated with GH insensitivity (GHI) presenting in childhood as severe or mild
Externí odkaz:
https://doaj.org/article/6469c4f41a034b22a312e000808ab957
Autor:
Reiko Horikawa, Toshiaki Tanaka, Yukihiro Hasegawa, Tohru Yorifuji, David Ng, Ron G. Rosenfeld, Yuko Hoshino, Akifumi Okayama, Daisuke Shima, Roy Gomez, Aleksandra Pastrak, Orlando Castellanos
Publikováno v:
Hormone Research in Paediatrics. 95:275-285
Introduction: Somatrogon is a long-acting recombinant human growth hormone being developed as a once-weekly treatment for children with growth hormone deficiency (GHD). The objective of this phase 3 study (NCT03874013) was to compare the efficacy and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b82b58ad5fa34116be688bc1aac26447
https://doi.org/10.1159/000524600
https://doi.org/10.1159/000524600
Publikováno v:
Hormone research in paediatrics. 95(6)
The growth hormone (GH)–insulin-like growth factor (IGF) cascade is central to the regulation of growth and metabolism. This article focuses on the history of the components of the IGF system, with an emphasis on the peptide hormones, IGF-I and -II
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a33254331c52aad3c20dd988e4529f7
https://pubmed.ncbi.nlm.nih.gov/36446332
https://pubmed.ncbi.nlm.nih.gov/36446332
Publikováno v:
Hormone Research in Paediatrics. 94:399-405
Background: In most cases, the growth hormone stimulation test is a necessary component for the diagnosis of growth hormone deficiency (GHD) in children. Diagnostic testing can lead to unnecessary treatment of children with false-positive test result
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c566b5c08a190bbf84b96f11eda0fce
https://doi.org/10.1159/000521281
https://doi.org/10.1159/000521281
Autor:
Vivian Hwa, Meenasri Kumbaji, Corinne Foley, Masanobu Fujimoto, Ron G. Rosenfeld, Gaohui Zhu, Wen Gao
Publikováno v:
Rev Endocr Metab Disord
Growth hormone insensitivity (GHI) syndrome, first described in 1966, is classically associated with monogenic defects in the GH receptor (GHR) gene which result in severe post-natal growth failure as consequences of insulin-like growth factor-I (IGF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03965afe300c3b6032040f43cc32707c
https://doi.org/10.1007/s11154-020-09603-3
https://doi.org/10.1007/s11154-020-09603-3
Publikováno v:
Journal of the Endocrine Society. 6:A647-A647
Background Somatrogon is a long-acting recombinant human growth hormone (hGH) currently in development as a once-weekly injectable treatment for children with growth hormone deficiency (GHD). In a phase 2 (NCT01592500) and a phase 3 (NCT02968004) stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::968f40c8e057f29a601225825d7a8632
https://doi.org/10.1210/jendso/bvac150.1338
https://doi.org/10.1210/jendso/bvac150.1338
Autor:
Vivian Hwa, Laura M. Jacobsen, Andrew Dauber, James A. McNichols, Melanie R. Shapiro, Todd M. Brusko, Timothy P. Foster, Daniel J. Perry, Andrew Muir, Ron G. Rosenfeld
Publikováno v:
Hormone Research in Paediatrics. 93:322-334
Introduction: Insulin-like growth factor 1 receptor (IGF1R) mutations lead to systemic disturbances in growth and glucose homeostasis due to widespread IGF1R expression throughout the body. IGF1R is expressed by innate and adaptive immune cells, faci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::04d32ad9078edf06cefc43c3591bcf16
https://doi.org/10.1159/000510764
https://doi.org/10.1159/000510764