Article

Mechanistic investigation of genotype-phenotype correlations in PIK3R1-related diseases

2018-01-01

Abstract excerpt

The PIK3R1 gene encodes three proteins - p85$\alpha$, p50$\alpha$ and p55$\alpha$ - that are regulatory subunits of Class IA phosphoinositide 3-kinases (PI3Ks). These regulatory subunits heterodimerise with one of three catalytic subunit isoforms, namely p110$\alpha$, p110$\beta$, or p110$\delta$. Class IA PI3Ks are critical enzymes involved in fundamental metabolic and mitogenic signalling pathways. This thesis d...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 40ebb8c7-73c7-5fcb-aa8f-00491878851c
DOI: 10.17863/cam.18165

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Mechanistic investigation of genotype-phenotype correlations in PIK3R1-related diseasesDOI 10.17863/cam.18165Read

SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.Semantic proximity Read

APDS2 and SHORT Syndrome in a Teenager with PIK3R1 Pathogenic Variant.Semantic proximity Read

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.Semantic proximity Read

Insights into the pathological mechanisms of p85α mutations using a yeast-based phosphatidylinositol 3-kinase model.Semantic proximity Read

Paradoxical dominant negative activity of an immunodeficiency-associated activating <i>PIK3R1</i> variantSemantic proximity Read

Mutations in PIK3R1 cause SHORT syndrome.Semantic proximity Read

Molecular Mechanisms of Human Disease Mediated by Oncogenic and Primary Immunodeficiency Mutations in Class IA Phosphoinositide 3-Kinases.Semantic proximity Read

Activated PI3Kinase Delta Syndrome—A Multifaceted DiseaseSemantic proximity Read

Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance.Semantic proximity Read

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation.Semantic proximity Read

Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma.Semantic proximity Read

PIK3CA-Related Disorders: From Disease Mechanism to Evidence-Based Treatments.Semantic proximity Read