ArticleMolecular metabolism2020
Truncation of Pik3r1 causes severe insulin resistance uncoupled from obesity and dyslipidaemia by increased energy expenditure.
Article in Molecular metabolism, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 37 citations in OpenAlex.
- Unveiling the mechanism of Baoyuan Jiedu Decoction in cancer cachexia-induced lipolysis through network pharmacology and bioinformatics.Journal of traditional and complementary medicine · 2026Article
- Deletion of the SHORT Syndrome Gene Prkce Results in Brain Atrophy and Cognitive and Motor Behavior Deficits in Mice.Neuroscience bulletin · 2026Article
- A genetics-guided integrative framework for drug repurposing: identifying antihypertensive drugs for type 2 diabetes.NPJ drug discovery · 2026Article
- Article
- Genetic subtyping of obesity reveals biological insights into the uncoupling of adiposity from its cardiometabolic comorbidities.Nature medicine · 2025Article
- Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.Communications biology · 2025Article
- The metabolically protective energy expenditure increase ofAmerican journal of physiology. Endocrinology and metabolism · 2025Article
- Thiamine and METTL14 in Diabetes Management with Intensive Insulin Therapy.Biomedicines · 2025Article
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- Paradoxical dominant negative activity of an immunodeficiency-associated activatingbioRxiv : the preprint server for biology · 2024Article
- Genetic Underpinnings of Fasting and Oral Glucose-stimulated Based Insulin Sensitivity Indices.The Journal of clinical endocrinology and metabolism · 2024Article
- Longitudinal integrative cell-free DNA analysis in gestational diabetes mellitus.Cell reports. Medicine · 2024Article
- Genes That Extend Lifespan May Do So by Mitigating the Increased Risk of Death Posed by Having Hypertension.American journal of hypertension · 2023Article
- DNA Methylation of Genes Participating in Hepatic Metabolisms and Function in Fetal Calf Liver Is Altered by Maternal Undernutrition during Gestation.International journal of molecular sciences · 2023Article
- SHORT Syndrome: an Update on Pathogenesis and Clinical Spectrum.Current diabetes reports · 2022Review
- Altered macronutrient composition and genetics influence the complex transcriptional network associated with adiposity in the Collaborative Cross.Genes & nutrition · 2022Article
- Article
- Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities.Nature metabolism · 2021Article
- Article
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Authors and funding
18 authors at 8 institutions in 3 countries.
Funding
Abstract
objectiveInsulin signalling via phosphoinositide 3-kinase (PI3K) requires PIK3R1-encoded regulatory subunits. C-terminal PIK3R1 mutations cause SHORT syndrome, as well as lipodystrophy and insulin resistance (IR), surprisingly without fatty liver or metabolic dyslipidaemia. We sought to investigate this discordance.
methodsThe human pathogenic Pik3r1 Y657
resultsLike humans with SHORT syndrome, Pik3r1
conclusionsPik3r1 dysfunction in mice phenocopies the IR and reduced adiposity without lipotoxicity of human SHORT syndrome. Decreased adiposity may not reflect bona fide lipodystrophy, but rather, increased energy expenditure, and we suggest that further study of brown adipose tissue in both humans and mice is warranted.
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