Associated Papers
The metabolically protective energy expenditure increase of Pik3r1-related insulin resistance is not explained by Ucp1-mediated thermogenesis.
Luijten I et al.
American Journal of Physiology. Endocrinology and Metabolism, 2025
Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant.
Tomlinson PR et al.
Elife, 2025
Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant.
Tomlinson PR et al.
Biorxiv : the Preprint Server for Biology, 2024
Unveiling the role of PIK3R1 in cancer: A comprehensive review of regulatory signaling and therapeutic implications.
Gupta I et al.
Seminars in Cancer Biology, 2024
Genetic Underpinnings of Fasting and Oral Glucose-stimulated Based Insulin Sensitivity Indices.
Suleman S et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
The Role of PIK3R1 in Metabolic Function and Insulin Sensitivity.
Tsay A et al.
International Journal of Molecular Sciences, 2023
High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort.
Crespo RP et al.
Journal of the Endocrine Society, 2022
The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature.
Lee CL et al.
Molecular Genetics and Metabolism Reports, 2021
A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature.
Sun L et al.
Bmc Medical Genetics, 2020
Truncation of Pik3r1 causes severe insulin resistance uncoupled from obesity and dyslipidaemia by increased energy expenditure.
Kwok A et al.
Molecular Metabolism, 2020
SHORT syndrome in two Chinese girls: A case report and review of the literature.
Zhang Y et al.
Molecular Genetics & Genomic Medicine, 2020
Mice Carrying a Dominant-Negative Human PI3K Mutation Are Protected From Obesity and Hepatic Steatosis but Not Diabetes.
Solheim MH et al.
Diabetes, 2018
Evaluation of human dermal fibroblasts directly reprogrammed to adipocyte-like cells as a metabolic disease model.
Chen JH et al.
Disease Models & Mechanisms, 2017
SHORT syndrome in a two-year-old girl - case report.
Klatka M et al.
Italian Journal of Pediatrics, 2017
Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.
Huang-Doran I et al.
Jci Insight, 2016
PI3-kinase mutation linked to insulin and growth factor resistance in vivo.
Winnay JN et al.
The Journal of Clinical Investigation, 2016
Mutations in PIK3R1 cause SHORT syndrome.
Dyment DA et al.
American Journal of Human Genetics, 2013