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The aim of this study was to evaluate the potential pathogenicity of eleven IGFALS variants.
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Previously characterized disease-causing mutations in IGF2, IGF1R, IGF2R, or IGFALS all were found in the general population but with allele frequencies of <1:30,000.
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To the known phenotype of ACLSD (i.e. short stature, reduced serum levels of IGF-I and ALS, extremely low serum IGFBP-3 and disturbed ternary complex formation), the study adds reduced birth weight, head circumference and serum IGF-II.
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Mutations in the IGFALS and low expression level of IGFALS proteins lead to growth and development retardation. [Review]
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A novel homozygous mutation in IGFALS, c.380T>C (p.L127P), was identified in two siblings of a consanguineous family.
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Heterozygous IGFALS gene variants could be responsible for short stature in a subset of idiopathic short stature children with diminished levels of IGF-1, IGFBP-3 and ALS.
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These gene dosage effects demonstrate that one functional IGFALS allele is insufficient to maintain normal ALS levels, endocrine IGF-I action, full growth potential, muscle size, and periosteal expansion.
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functional analysis supported a tumor-suppressive function for IGFALS in vitro.
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Heterozygous STAT5B mutations, with or without heterozygous IGFALS defects, may be associated with growth hormone insensitivity.
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low circulating IGF-I levels due to Acid-Labile Subunit deficiency in adulthood are not associated with early development of atherosclerosis and impaired heart function.
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D440N mutation in ALS generates a hyperglycosylated form with impaired secretion and complex formation, potentially leading to dysregulation of endocrine IGF, thus contributing to growth retardation
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Common genetic variation in the IGF1 and SSTR5 genes seems to influence circulating IGF-I levels
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We describe that the human placenta expresses the mRNA and the protein for ALS, and we observed an increase in ALS mRNA expression and protein content in small compared with appropriate for gestational age placentas.
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Findings suggest that common genetic variation in the ALS gene is not related to IGF-I levels and mammographic density.
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Heterozygosity for IGFALS mutations results in approximately 1.0SD height loss compared to wild type.
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Plasma acid-labile subunit is positively associated with prostate cancer risk, and may interact biologically with IGF-I to affect carcinogenesis
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Total and free insulin-like growth factor I, insulin-like growth factor binding protein 3 and acid-labile subunit reflect clinical activity in acromegaly.
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serum acid labile subunit levels were elevated in girls with central precocious puberty and decreased significantly during the first year of GnRH analog therapy
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Inactivation of the IGFALS gene caused delayed onset of puberty in 17 year old boy
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Key role of ALS in regulating transendothelial IGF transport.
