Associated Papers
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
Structural basis for assembly and disassembly of the IGF/IGFBP/ALS ternary complex.
Kim H et al.
Nature Communications, 2022
Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency.
Scaglia PA et al.
Clinical Endocrinology, 2017
Analysis of acid-labile subunit and its usefulness in pediatrics.
Zaidman VE
Archivos Argentinos De Pediatria, 2017
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
D440N mutation in the acid-labile subunit of insulin-like growth factor complexes inhibits secretion and complex formation.
Firth SM et al.
Molecular Endocrinology (baltimore, Md.), 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
Molecular genetics of human growth hormone, insulin-like growth factors and their pathways in common disease.
Rodriguez S et al.
Human Genetics, 2007
Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure.
Hwa V et al.
The Journal of Clinical Endocrinology and Metabolism, 2006