Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Short stature in a patient with acid-labile subunit deficiency and type 1 diabetes mellitus.
López Montalbán Á et al.
Medicina Clinica, 2025
Polymorphism in IGFALS gene and its association with scrotal circumference in Hu lambs.
Ma Z et al.
Animal Biotechnology, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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
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
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
Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.
Domené HM et al.
Hormone Research, 2009
Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia.
Heath KE et al.
The Journal of Clinical Endocrinology and Metabolism, 2008