Associated Papers
Clinical and genetic findings of individuals tested using the navigateAPDS genetic testing program.
Campbell E et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2026
Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants.
Dsouza NR et al.
International Journal of Molecular Sciences, 2024
Structural and Dynamic Analyses of Pathogenic Variants in PIK3R1 Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes.
Dsouza NR et al.
Life (basel, Switzerland), 2024
Genomic crossroads between non-Hodgkin's lymphoma and common variable immunodeficiency.
Guevara-Hoyer K et al.
Frontiers in Immunology, 2022
35990641 (PubMed )
Supplement: DataSheet_2.xlsx › Supp_Table_2
Mutations in PIK3R1 cause SHORT syndrome.
Dyment DA et al.
American Journal of Human Genetics, 2013
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-
Disrupted RabGAP function of the p85 subunit of phosphatidylinositol 3-kinase results in cell transformation.
Chamberlain MD et al.
The Journal of Biological Chemistry, 2008
Phosphatidylinositol 3-kinase p85alpha regulatory subunit gene PIK3R1 haplotype is associated with body fat and serum leptin in a female twin population.
Jamshidi Y et al.
Diabetologia, 2006
Natural variants of human p85 alpha phosphoinositide 3-kinase in severe insulin resistance: a novel variant with impaired insulin-stimulated lipid kinase activity.
Baynes KC et al.
Diabetologia, 2000
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