ArticleBMJ open diabetes research & care2023
Identification and characterization of novel carboxyl ester lipase gene variants in patients with different subtypes of diabetes.
Article in BMJ open diabetes research & care, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 9 citations in OpenAlex.
- Oncocytic Adrenocortical Carcinoma with Somatic Pathogenic Variants ofDiagnostics (Basel, Switzerland) · 2026Article
- Novel variation in theFrontiers in endocrinology · 2026Review
- Clinical and genetic characteristics of young-onset diabetes with concurrent mitochondrial m.3243A>G andWorld journal of diabetes · 2025Article
- Complement and coagulation cascade cross-talk in endometriosis and the potential of Janus Kinase inhibitors-a network meta-analysis.Frontiers in immunology · 2025Article
- Revealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric MODY Cases in Türkiye: Single Center Experience.Pediatric diabetes · 2025Article
- Transcription and post-translational mechanisms: dual regulation of adiponectin-mediated Occludin expression in diabetes.Cell & bioscience · 2024Article
- Assessment of pathogenicity and functional characterization ofWorld journal of diabetes · 2024Article
- Type 1 Diabetes: A Disorder of the Exocrine and Endocrine Pancreas.Journal of cellular immunology · 2023Article
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionMutations of RESEARCH DESIGN AND
methodsAll five patients enrolled in our study were admitted to Shandong Provincial Hospital and diagnosed with diabetes in the past year. Whole-exome sequencing was performed to identify pathogenic variants in three patients with MODY-like diabetes, one newborn baby with T1D and one patient with atypical T2D, as well as their immediate family members. Then the consequences of the identified variants were predicted by bioinformatic analysis. Furthermore, pathogenic effects of two novel
resultsFive novel heterozygous variants were identified in
conclusionOur study identified five novel
Indexed as
Identifiers
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