The Serum Growth Hormone (GH) Response to Provoc- ative Tests Is Dependent on Type of Assay in Autoso- mal Dominant Isolated GH Deficiency because of an ARGHIS (R183H) GH-I Gene Mutation, Roxana
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منابع مشابه
Prolonged retention after aggregation into secretory granules of human R183H-growth hormone (GH), a mutant that causes autosomal dominant GH deficiency type II.
Human R183H-GH causes autosomal dominant GH deficiency type II. Because we show here that the mutant hormone is fully bioactive, we have sought to locate an impairment in its progress through the secretory pathway as assessed by pulse chase experiments. Newly synthesized wild-type and R183H-GH were stable when expressed transiently in AtT20 cells, and both formed equivalent amounts of Lubrol-in...
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OBJECTIVE G to A transition at position 6664 of the growth hormone (GH-1) gene results in the substitution of Arg183 by His (R183H) in the GH protein and causes a new form of autosomal dominant isolated GH deficiency (IGHD type II). The aim of this study was to assess the bioactivity of this R183H mutant GH in comparison with both other GH variants and the 22-kDa GH in terms of GH-receptor gene...
متن کاملVariability of isolated autosomal dominant GH deficiency (IGHD II): impact of the P89L GH mutation on clinical follow-up and GH secretion.
OBJECTIVE Four distinct familial types of isolated GH deficiency (IGHD) are classified, of which type II, IGHD II, is the autosomal dominant inherited form. Based on clinical data, it became evident that there is a wide variability in phenotype among the various GH-1 gene alterations leading to the disorder. As subjects suffering from IGHD II caused by the specific missense mutated P89L GH (C61...
متن کاملLinear Growth Deficiency in b-Thalassemia Patients: Is It Growth Hormone Dependent?
Background: b-Thalassemia major is a serious medical problem.Growth retardation is commonly seen in poly-transfused b-thalassemia patients. The exact mechanism of short stature in childrenwith thalassemia major is not well understood, however, it isbelieved to be multi-factorial.Objective: To study the growth state and its relationship to growthhormone (GH) deficiency in b-thalassemia patients....
متن کاملEffects of Low-Dose Recombinant Human Growth Hormone on Bone Densities of Radius, Tibia and 4th Lumbar Vertebrae in Rabbits
Objective- To determine the effects of growth hormone (GH) therapy on bone density in controlled conditions in healthy adult rabbits. Design- Experimental in vivo study. Animal- 20 healthy, adult New Zealand White rabbits. Procedures- The rabbits were divided into 2 groups; receiving Human GH (0.006 mg/kg/d) and controls; receiving placebo for 3 months. The density of radius and tibia was m...
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تاریخ انتشار 2003