25 downloads
128 views

Background Autism spectrum disorder (ASD) is a complex heterogeneous developmental disease with a significant genetic background that is frequently caused by rare copy number variants (CNVs). Microarray-based whole-genome approaches for CNV detection are widely...

["Pediatrics","Translational Medicine","Medical Genetics"]
doi:10.7717/peerj.6183
70 downloads
100 views

Psychiatric disorders present distinct clinical challenges which are partly attributable to their multifactorial aetiology and the absence of laboratory tests that can be used to confirm diagnosis or predict risk. Psychiatric disorders are highly heritable, but...

["Genetics","Genomics","Ethical Issues","Medical Genetics"]
doi:10.7287/peerj.preprints.27392v1
299 downloads
440 views

The rapid decrease in DNA sequencing cost is revolutionizing medicine and science. In medicine, genome sequencing has revealed millions of missense variants that change protein sequences, yet we only understand the molecular and phenotypic consequences of a small...

["Bioinformatics","Biophysics","Computational Biology","Genomics","Medical Genetics"]
doi:10.7287/peerj.preprints.27379v1
54 downloads
270 views

Background Marfan syndrome (MFS) is an inherited connective tissue disorder affecting the ocular, skeletal and cardiovascular systems. Previous studies of MFS have demonstrated the association between genetic defects and clinical manifestations. Our purpose was...

["Genetics","Genomics","Molecular Biology","Cardiology","Medical Genetics"]
doi:10.7717/peerj.5927
56 downloads
140 views

The American FDA approved the first comprehensive NGS diagnostic assay for cancer at the end of 2017, leading the way to personalised therapy of cancer and the massive employ of bioinformatics (https://www.fda.gov/downloads/medicaldevices/productsandmedicalprocedures/invitrodiagnostics/...

["Oncology","Medical Genetics","Computational Science"]
doi:10.7287/peerj.preprints.27338v1
66 downloads
244 views

Background Oxidative stress (OS) is a key characteristic feature in cancer initiation and progression. Among multiple cancers, NADPH oxidase (NOX) dependent free radical production is implicated in oxidative stress. P22phox, a subunit of NADPH oxidase encoded by...

["Genetics","Oncology","Medical Genetics"]
doi:10.7717/peerj.5509
170 downloads
687 views

Sarcopenia is an age-related disease characterized by the loss of muscle mass and muscle function. A proper understanding of its pathogenesis and mechanisms may lead to new strategies for diagnosis and treatment of the disease. This study aims to discover the underlying...

["Bioinformatics","Diabetes and Endocrinology","Geriatrics","Medical Genetics"]
doi:10.7717/peerj.5239
2 citations
210 downloads
622 views

Background Metabolic syndrome (MS) is a construct used to separate “healthy” from “unhealthy” obese patients, and is a major risk factor for type 2 diabetes (T2D) and cardiovascular disease. There is controversy over whether obese “metabolically well” persons have...

["Nutrition","Public Health","Medical Genetics","Metabolic Sciences"]
doi:10.7717/peerj.5410
105 downloads
553 views

Objective This study was undertaken to detect if free fatty acids (FFA) induce hepatocyte senescence in L-02 cells and if huperzine A has an anti-aging effect in fatty liver cells. Methods L-02 cells were treated with a FFA mixture (oleate/palmitate, at 3:0, 2:1,...

["Gastroenterology and Hepatology","Pharmacology","Medical Genetics","Metabolic Sciences"]
doi:10.7717/peerj.5145
469 downloads
864 views

Mitochondria are small, energy-producing structures vital to the energy needs of the body. Genetic mutations cause mitochondria to fail to produce the energy needed by cells and organs which can cause severe disease and death. These genetic mutations are likely...

["Genetics","Internal Medicine","Neurology","Medical Genetics"]
doi:10.7717/peerj.4790
2 citations
200 downloads
771 views

Background Using DNA microarrays, we previously identified 451 genes expressed in 19 different human tissues. Although ubiquitously expressed, the variable expression patterns of these “housekeeping genes” (HKGs) could separate one normal human tissue type from...

["Bioinformatics","Computational Biology","Genomics","Oncology","Medical Genetics"]
doi:10.7717/peerj.4719
163 downloads
727 views

Background Type 2 diabetes is characterized by insulin resistance accompanied by defective insulin secretion. Transgenic mouse models play an important role in medical research. However, single transgenic mouse models may not mimic the complex phenotypes of most...

["Agricultural Science","Biotechnology","Diabetes and Endocrinology","Histology","Medical Genetics"]
doi:10.7717/peerj.4542
1 citation
127 downloads
565 views

Background Acitretin is a second-generation synthetic retinoid, and is widely used for treating the severe psoriasis vulgaris. However, it should be chosen with caution for its cardiovascular risk, and it is reported that acitretin may increase the serum lipids....

["Dermatology","Pharmacology","Medical Genetics"]
doi:10.7717/peerj.4637
1 citation
457 downloads
1,603 views

Objectives We aimed to evaluate the global scientific output of gene research of myocardial infarction and explore their hotspots and frontiers from 2001 to 2015, using bibliometric methods. Methods Articles about the gene research of myocardial infarction between...

["Genetics","Cardiology","Statistics","Medical Genetics"]
doi:10.7717/peerj.4354
223 downloads
768 views

Objectives To investigate the frequency and prognostic role of deficient mismatch repair (dMMR) and RAS mutation in Chinese patients with colorectal carcinoma. Methods Clinical and pathological information from 813 patients were reviewed and recorded. Expression...

["Gastroenterology and Hepatology","Oncology","Pathology","Medical Genetics"]
doi:10.7717/peerj.4341

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