Associated Papers
Structural basis for assembly and disassembly of the IGF/IGFBP/ALS ternary complex.
Kim H et al.
Nature Communications, 2022
Analysis of acid-labile subunit and its usefulness in pediatrics.
Zaidman VE
Archivos Argentinos De Pediatria, 2017
A probabilistic model to predict clinical phenotypic traits from genome sequencing.
Chen YC et al.
Plos Computational Biology, 2014
25188385 (PubMed )
Supplement: pcbi.1003825.s014.xlsx › TableS12
A novel homozygous mutation of the IGFALS gene in a female adolescent: indirect evidence for a contributing role of the circulating IGF-I pool in the pubertal growth spurt.
Poukoulidou T et al.
Hormone Research in Paediatrics, 2014
A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).
Hess O et al.
Clinical Endocrinology, 2013
Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system.
Domené HM et al.
Hormone Research in Paediatrics, 2013
A new structural model of the acid-labile subunit: pathogenetic mechanisms of short stature-causing mutations.
David A et al.
Journal of Molecular Endocrinology, 2012
Genetic factors associated with small for gestational age birth and the use of human growth hormone in treating the disorder.
Saenger P et al.
International Journal of Pediatric Endocrinology, 2012
Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.
David A et al.
Endocrine Reviews, 2011
Acid-labile subunit (ALS) deficiency.
Domené HM et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2011
Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth.
Savage MO et al.
Frontiers in Endocrinology, 2011
Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium.
Fofanova-Gambetti OV et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
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