Associated Papers
Structural basis for assembly and disassembly of the IGF/IGFBP/ALS ternary complex.
Kim H et al.
Nature Communications, 2022
Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity.
Shapiro L et al.
European Journal of Endocrinology, 2017
Analysis of acid-labile subunit and its usefulness in pediatrics.
Zaidman VE
Archivos Argentinos De Pediatria, 2017
Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency.
Storr HL et al.
Journal of Endocrinological Investigation, 2015
IGFALS gene dosage effects on serum IGF-I and glucose metabolism, body composition, bone growth in length and width, and the pharmacokinetics of recombinant human IGF-I administration.
Högler W et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
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
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
Acid-labile subunit deficiency and growth failure: description of two novel cases.
David A et al.
Hormone Research in Paediatrics, 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