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
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies.
Martucci LC et al.
Molecular and Cellular Endocrinology, 2016
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
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
Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins.
Fofanova-Gambetti OV et al.
Hormone Research, 2009
Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.
Domené HM et al.
Hormone Research, 2009
Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.
Domené HM et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
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