ArticleInternational journal of general medicine2021
Whole Exome Sequencing Study in a Family with Type 2 Diabetes Mellitus.
Article in International journal of general medicine, 2021. 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, 30 citations in OpenAlex.
- Longitudinal monitoring of type 1 diabetes progression to disease onset.Science advances · 2026Article
- Rapid whole genome sequencing in newborn screening for metabolic diseases.Frontiers in pediatrics · 2025Review
- Comparative Transcriptome Analysis Unveils Regulatory Factors Influencing Fatty Liver Development in Lion-Head Geese under High-Intake Feeding Compared to Normal Feeding.Veterinary sciences · 2024Article
- Ovalbumin promotes innate immune response of Caenorhabditis elegans through DAF-16 and SKN-1 pathways in insulin/IGF-1 signaling.Journal of physiology and biochemistry · 2024Article
- ZNF787 and HDAC1 Mediate Blood-Brain Barrier Permeability in an In Vitro Model of Alzheimer's Disease Microenvironment.Neurotoxicity research · 2024Article
- Transcriptome Changes and Metabolic Outcomes After Bariatric Surgery in Adults With Obesity and Type 2 Diabetes.Journal of the Endocrine Society · 2023Article
- The potential of the Medical Digital Twin in diabetes management: a review.Frontiers in medicine · 2023Review
- Insights into the architecture of human-induced polygenic selection in Duroc pigs.Journal of animal science and biotechnology · 2022Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundType 2 diabetes mellitus (T2DM) is characterized by β cell decline in the pancreas and insulin resistance. This study aimed to investigate the possible pathogenic gene mutation sites of T2DM patients using whole exome sequencing. MATERIALS AND
methodsWe recruited a Chinese family with 3-generation history of diabetes. The whole blood genomic DNA of seven members of the family was extracted and sent for whole exome sequencing. Biological information was analyzed with in silico prediction methods, including significance analysis of single nucleotide polymorphism (SNP)/Indel site, and analysis of specific SNP/Indel proteins and their potential mechanisms.
resultsSix out of seven members of the family were diagnosed with diabetes. All DNA samples (23 kb) met quality requirements of library construction. Clean reads of each sample demonstrated high Q20 and Q30 (>80%), indicating good sequencing quality of sequencing data. A total of 130,693 SNPs and 15,928 Indels were found in DNA samples. A total of 22 significant SNPs and Indel mutation sites located on 19 genes were obtained, including
conclusionExons of these diabetic patients demonstrated an
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Registered trials
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