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The protein encoded by IGFALS is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Zusätzlich bieten wir Ihnen Insulin-Like Growth Factor Binding Protein, Acid Labile Subunit Antikörper (66) und Insulin-Like Growth Factor Binding Protein, Acid Labile Subunit Proteine (5) und viele weitere Produktgruppen zu diesem Protein an.
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The aim of this study was to evaluate the potential pathogenicity of eleven IGFALS variants.
Previously characterized disease-causing mutations in IGF2, IGF1R (zeige IGF1R ELISA Kits), IGF2R (zeige IGF2R ELISA Kits), or IGFALS all were found in the general population but with allele frequencies of <1:30,000.
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.
Mutations in the IGFALS and low expression level of IGFALS proteins lead to growth and development retardation. [Review]
A novel homozygous mutation in IGFALS, c.380T>C (p.L127P), was identified in two siblings of a consanguineous family.
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.
These gene dosage effects demonstrate that one functional IGFALS allele is insufficient to maintain normal ALS levels, endocrine IGF-I (zeige IGF1 ELISA Kits) action, full growth potential, muscle size, and periosteal expansion.
functional analysis supported a tumor-suppressive function for IGFALS in vitro.
Heterozygous STAT5B mutations, with or without heterozygous IGFALS defects, may be associated with growth hormone insensitivity.
low circulating IGF-I (zeige IGF1 ELISA Kits) levels due to Acid-Labile Subunit deficiency in adulthood are not associated with early development of atherosclerosis and impaired heart function.
the Igfals gene has a role in skeletal response of male mice to anabolic hormone therapy
A modest reduction in post-natal growth in the null ALS mice and in the ALS-deficient patients was observed
The isolation and characterization of the IGFALS gene, including its expression profile and variations, are reported.
Polymorphisms in the IGFALS gene are associated with growth traits in beef cattle (Bos taurus) in China.
The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene.
insulin-like growth factor binding protein, acid labile subunit
, insulin-like growth factor-binding protein complex acid labile subunit-like
, insulin-like growth factor binding protein complex acid labile chain
, insulin-like growth factor-binding protein complex acid labile subunit
, insulin-like growth factor binding protein complex acid-labile subunit
, insulin-like growth factor-binding protein complex acid labile chain
, insulin-like growth factor binding protein, acid-labile subunit