ReviewDiabetologia2022
Achievements, prospects and challenges in precision care for monogenic insulin-deficient and insulin-resistant diabetes.
Review in Diabetologia, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Pathogenic monoallelic variants in GLIS3 increase type 2 diabetes risk and identify a subgroup of patients sensitive to sulfonylureas.Diabetologia · 2024Pooled it
- Maturity Onset Diabetes of the Young (MODY): French National Diagnosis and Care Protocol (PNDS, Protocole National de Diagnostic et de Soins).Orphanet journal of rare diseases · 2026Review
- A new form of diabetes caused by INS mutations defined by zygosity, stem cell and population data.EMBO molecular medicine · 2026Article
- Decreased PLK2 promotes atrial fibrillation in diabetic mice through Nrf2/HO-1 pathway.Acta diabetologica · 2025Article
- Emerging phenotype: Maturity-onset diabetes of the young type 5 (MODY-5) - mechanisms, clinical spectrum, and unmet needs.Diabetology & metabolic syndrome · 2025Review
- Zebrafish as a preclinical model for diabetes mellitus and its complications: From monogenic to gestational diabetes and beyond.World journal of diabetes · 2025Review
- Distinct Roles of Common Genetic Variants and Their Contributions to Diabetes: MODY and Uncontrolled T2DM.Biomolecules · 2025Review
- Exposure to PCB52 (2,2',5,5'-tetrachlorobiphenyl) blunts induction of the gene for uncoupling protein 1 (UCP1) in white adipose.Environmental toxicology and pharmacology · 2025Article
- Chinese carrier of theHeliyon · 2024Article
- Atypical diabetes arising from SHORT syndrome: a case report.Frontiers in endocrinology · 2024Article
- Tele-rehabilitation for Type II diabetics with heart failure with preserved ejection fraction.Frontiers in endocrinology · 2024Article
- Genotype-stratified treatment for monogenic insulin resistance: a systematic review.Communications medicine · 2023Article
- Systematic review of genotype-stratified treatment for monogenic insulin resistance.medRxiv : the preprint server for health sciences · 2023Article
- Monogenic diabetes.Nature reviews. Disease primers · 2023Review
- Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.Journal of diabetes investigation · 2023Article
- Recent Advances in the Knowledge of the Mechanisms of Leptin Physiology and Actions in Neurological and Metabolic Pathologies.International journal of molecular sciences · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
Integration of genomic and other data has begun to stratify type 2 diabetes in prognostically meaningful ways, but this has yet to impact on mainstream diabetes practice. The subgroup of diabetes caused by single gene defects thus provides the best example to date of the vision of 'precision diabetes'. Monogenic diabetes may be divided into primary pancreatic beta cell failure, and primary insulin resistance. In both groups, clear examples of genotype-selective responses to therapy have been advanced. The benign trajectory of diabetes due to pathogenic GCK mutations, and the sulfonylurea-hyperresponsiveness conferred by activating KCNJ11 or ABCC8 mutations, or loss-of-function HNF1A or HNF4A mutations, often decisively guide clinical management. In monogenic insulin-resistant diabetes, subcutaneous leptin therapy is beneficial in some severe lipodystrophy. Increasing evidence also supports use of 'obesity therapies' in lipodystrophic people even without obesity. In beta cell diabetes the main challenge is now implementation of the precision diabetes vision at scale. In monogenic insulin-resistant diabetes genotype-specific benefits are proven in far fewer patients to date, although further genotype-targeted therapies are being evaluated. The conceptual paradigm established by the insulin-resistant subgroup with 'adipose failure' may have a wider influence on precision therapy for common type 2 diabetes, however. For all forms of monogenic diabetes, population-wide genome sequencing is currently forcing reappraisal of the importance assigned to pathogenic mutations when gene sequencing is uncoupled from prior suspicion of monogenic diabetes.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.