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E180splice mutation in the growth hormone receptor gene in a Chilean family with growth hormone insensitivity: A probable common mediterranean ancestor
(Freund Publishing House Ltd, 2008)
Mutations in the GH receptor gene have been identified as the cause of growth hormone insensitivity syndrome (GHIS), a rare autosomal recessive disorder. We studied the clinical and biochemical characteristics and the ...
Genetic Mutations in the GH/IGF Axis
(Medical Media, 2018-09)
The GH/IGF axis plays an important role in the control of pre and postnatal growth. At least 48 monogenic defects have been described affecting the production, secretion, and action of GH and IGFs. Molecular defects of the ...
A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI)
(Churchill Livingstone, 2020-02)
Background: The most frequent monogenic causes of growth hormone insensitivity (GHI) include defects in genes encoding the GH receptor itself (GHR), the signal transducer and activator of transcription (STAT5B), the insulin ...
Acid-labile subunit (ALS) deficiency
(Elsevier, 2011-02)
The acid-labile subunit (ALS) protein is crucial for maintaining the integrity of the circulating IGF/IGFBP system. In humans, complete ALS deficiency is characterized by severely reduced serum IGF-I and IGFBP-3 concentrations ...
Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences
(Karger, 2009-12)
The majority of insulin-like growth factor (IGF)-I and IGF-II circulate in the serum as a complex with the insulin-like growth factor binding protein (IGFBP)-3 or IGFBP-5, and an acid-labile subunit (ALS). The function of ...
Somatotrophic and thyroid hormones around the onset of lay in broiler breeders under different conditions
(Akademiai Kiado, 2002-01-01)
Somatotrophic and thyroid hormones were determined around the onset of reproduction in broiler breeders reared in two different housing systems [dark, close-sided house (CH) and conventional, open-sided house (OH)]. In ...
Somatotrophic and thyroid hormones around the onset of lay in broiler breeders under different conditions
(Akademiai Kiado, 2002-01-01)
Somatotrophic and thyroid hormones were determined around the onset of reproduction in broiler breeders reared in two different housing systems [dark, close-sided house (CH) and conventional, open-sided house (OH)]. In ...
Genetic analysis of short children with apparent growth hormone insensitivity
(Karger, 2012-06)
Background/Aims: In short children, a low IGF-I and normal GH secretion may be associated with various monogenic causes, but their prevalence is unknown. We aimed at testing GH1, GHR, STAT5B, IGF1, and IGFALS in children ...
Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations
(Elsevier Ireland, 2018-09)
Germinal heterozygous activating STAT3 mutations represent a novel monogenic defect associated with multi-organ autoimmune disease and, in some cases, severe growth retardation. By using whole-exome sequencing, we identified ...