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Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium
(Endocrine Society, 2010-09)
Context: To date, 16 IGFALS mutations in 21 patients with acid-labile subunit (ALS) deficiency have been reported. The impact of heterozygosity for IGFALS mutations on growth is unknown. Objective: The study evaluates the ...
Novel acid-labile subunit ( IGFALS ) mutation p.T145K (c.434C>A) in a patient with ALS deficiency, normal stature and immunological dysfunction
(Karger, 2013-06)
We report a novel missense mutation p.T145K in the insulin-like growth factor (IGF) acid-labile subunit (IGFALS) gene identified in a Turkish patient with normal growth, transient pancytopenic episodes and signs of ...
Heterozygous IGFALS Gene Variants in Idiopathic Short Stature and Normal Children: Impact on Height and the IGF System
(Karger, 2013-12)
Background: In acid-labile subunit (ALS)-deficient families, heterozygous carriers of IGFALS gene mutations are frequently shorter than their wild-type relatives, suggesting that IGFALS haploinsufficiency could result in ...
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 ...
Deficiency of the Insulin-Like Growth Factor-Binding Protein Acid-Labile Subunit (ALS) of the Circulating Ternary Complex in Children with Short Stature
(Y. S. Medical Media Ltd., 2010-06)
The acid-labile subunit (ALS) protein is a key component of the circulating 150-kDa IGF ternary complex. The main role of ALS is the extension of IGF-I half life by protecting it from degradation and preventing the passage ...
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 ...
Expression of acid-labile subunit (ALS) in developing and adult zebrafish and its role in dorso-ventral patterning during development
(Academic Press Inc Elsevier Science, 2020-12)
Mammalian acid-labile subunit (ALS) is a serum protein that binds binary complexes between Insulin-like growth factors (IGFs) and Insulin-like growth factor-binding proteins (IGFBPs) extending their half-life and keeping ...
Evaluación del Gen Igfals en una muestra de pacientes con talla baja idiopática en la ciudad de Bogotá
(2015-06-04)
La talla baja se ha descrito como una estatura por debajo de -2 desviaciones estándar para la edad y el sexo, respecto a la población general (o P3) (J.M. Wit, et al, 2011; J.M Wit, et al 2008). Dentro de la clasificación ...
Genetic disorders of GH action pathway
(Churchill Livingstone, 2018-02)
While insensitivity to GH (GHI) is characterized by low IGF-I levels, normal or elevated GH levels, and lack of IGF-I response to GH treatment, IGF-I resistance is characterized by elevated IGF-I levels with normal/high ...
Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency
(Wiley Blackwell Publishing, Inc, 2017-09)
Objective: Acid-labile subunit deficiency (ACLSD), caused by inactivating mutations in both IGFALS gene alleles, is characterized by marked reduction in IGF-I and IGFBP-3 levels associated with mild growth retardation. The ...