Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies.

Molecular and cellular endocrinology - 5 Jul 2016

Martucci Lucía C, Gutiérrez Mariana L, Karabatas Liliana M, Scaglia Paula A, Rey Rodolfo A, Domené Horacio M, Jasper Héctor G, Domené Sabina

Abstract excerpt

Acid-labile subunit (ALS) is essential for stabilization of IGF-I and IGFBP-3 in ternary complexes within the vascular system. ALS deficient (ALS-D) patients and a subset of children with idiopathic short stature (ISS), presenting IGFALS gene variants, show variable degree of growth retardation associated to IGF-I and IGFBP-3 deficiencies. The aim of this study was to evaluate the potential pathogenicity of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to CHO Cells
Share to Computational Biology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Computer Simulation

Share to Cricetinae

Share to Cricetulus

Share to Glycoproteins

Share to Mutant Proteins

Share to Software

Source

Identifiers

PMID: 27018247
DOI: 10.1016/j.mce.2016.03.031

Genes

IGFALS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies.PMID 27018247Read ↗

Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system.Semantic proximity Read ↗

Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and Development.Semantic proximity Read ↗

Clinical features of a new acid-labile subunit (IGFALS) heterozygous mutation: anthropometric and biochemical characterization and response to growth hormone administration.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins.Semantic proximity Read ↗

Novel IGFALS mutations with predicted pathogenetic effects by the analysis of AlphaFold structure.Semantic proximity Read ↗

Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance.Semantic proximity Read ↗

Novel acid-labile subunit ( IGFALS ) mutation p.T145K (c.434C>A) in a patient with ALS deficiency, normal stature and immunological dysfunction.Semantic proximity Read ↗

Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms.Semantic proximity Read ↗

A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.Semantic proximity Read ↗

Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency.Semantic proximity Read ↗

A comprehensive in silico analysis of the functional and structural impact of SNPs in the IGF1R gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.