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English Journal

Association of serum components of the GH-IGFs-IGFBPs system with GHR-exon 3 polymorphism in normal and idiopathic short stature children.

Ballerini MG, Domené HM, Scaglia P, Martínez A, Keselman A, Jasper HG, Ropelato MG.SourceDivisión de Endocrinología, Centro de Investigaciones Endocrinológicas (CEDIE-CONICET), Hospital de Niños Dr. Ricardo Gutiérrez, Buenos Aires, Argentina. Electronic address: mgballerini@cedie.org.ar.
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.Growth Horm IGF Res.2013 Dec;23(6):229-36. doi: 10.1016/j.ghir.2013.08.003. Epub 2013 Aug 19.
OBJECTIVE: To investigate the possible association of circulating components of GH-IGFs-IGFBPs system with the GHR-exon 3 genotype in normal and idiopathic short stature (ISS) children.DESIGN: Descriptive, cross-sectional study in normal and ISS children.SUBJECTS AND METHODS: 192 normal and 81 ISS c
PMID 23999134

Junnila RK, Wu Z, Strasburger CJ.SourceDepartment of Clinical Endocrinology, Campus Charité Mitte, Charité Universitaetsmedizin, Berlin, Germany. junnila@ohio.edu
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.Growth Horm IGF Res.2013 Jun;23(3):62-7. doi: 10.1016/j.ghir.2013.02.002. Epub 2013 Mar 9.
OBJECTIVE: Human growth hormone (hGH), as well as the other members of the same polypeptide hormone family, have a four-helix bundle structure linked by two disulfide bridges, C53-C165 and C182-C189 in hGH. The C-terminal disulfide bridge of growth hormone is evolutionally conserved but its role is
PMID 23478141

A novel exonic GHR splicing mutation (c.784G > C) in a patient with classical growth hormone insensitivity syndrome.

Akıncı A, Rosenfeld RG, Hwa V.SourceDepartment of Pediatric Endocrinology, Turgut Özal Medical Center, İnonu University, Malatya, Turkey. aysehan.akinci@inonu.edu.tr
Hormone research in pædiatrics.Horm Res Paediatr.2013;79(1):32-8. doi: 10.1159/000341527. Epub 2012 Sep 20.
Context: Undetectable circulating growth hormone-binding protein (GHBP) can be indicative of a GH receptor (GHR) defect and cause GH insensitivity (GHI) syndrome. Case Report: The proband, severely growth retarded from birth, had a height of 73 cm (-6 SDS) and weight of 10.5 kg (-2.5 SDS) at the age
PMID 23006617

成長ホルモン結合蛋白(GHBP) (広範囲血液・尿化学検査免疫学的検査(第7版・4)その数値をどう読むか) -- (内分泌学的検査間脳下垂体関係(subunitを含む))

Iida Keiji,Takahashi Yutaka,Kaji Hidesuke,Chihara Kazuo
Clinical Pediatric Endocrinology 10(1), 75-87, 2001
… One is a heterozygous point mutation of the donor splice site in intron 9 of the GHR gene in 2 siblings with GHIS, whose serum GHBP levels were high. … This mutation caused truncation of GHR with a dominant negative effect on GH signaling, which is probably responsible for their short stature and high serum GHBP levels. …
NAID 130004430900