21 downloads
114 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
35 downloads
86 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
50 downloads
159 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
127 downloads
559 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
166 downloads
459 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
84 downloads
491 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
347 downloads
768 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
178 downloads
699 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
138 downloads
638 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
119 downloads
509 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
398 downloads
1,450 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
194 downloads
688 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
195 downloads
1,162 views

Ebola virus, a negative-sense single-stranded RNA virus, causes severe viral hemorrhagic fever and has a high mortality rate. Histopathological and immunopathological analyses of Ebola virus have revealed that histopathological changes in skin tissue are associated...

["Bioinformatics","Microbiology","Infectious Diseases","Medical Genetics"]
doi:10.7717/peerj.4138
1 citation
170 downloads
796 views

Background Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by a variety of physical, cognitive, and behavioral impairments. PWS is a unique sarcopenia model characterized by an abnormal increase in body fat mass and a decrease...

["Diabetes and Endocrinology","Pediatrics","Medical Genetics","Metabolic Sciences"]
doi:10.7717/peerj.4097
99 downloads
416 views

Background. Type 2 diabetes, a chronic disease to which susceptibility is hereditary, is characterized by insulin resistance accompanied by defective insulin secretion. Mouse models, especially transgenic mice, play an important role in medical research. However,...

["Agricultural Science","Biotechnology","Diabetes and Endocrinology","Histology","Medical Genetics"]
doi:10.7287/peerj.preprints.3437v1

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