Peer-reviewed Articles - Biology

53 downloads
267 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
64 downloads
239 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
459 downloads
858 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
1 citation
455 downloads
1,593 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
1 citation
280 downloads
1,118 views

Background/Aim Strabismus is a common condition with misalignment between two eyes that may lead to decrease of visual acuity, lack of binocularity, and diplopia. It is caused by heterogeneous environmental and genetic risk factors. Our previous research has identified...

["Genetics","Genomics","Ophthalmology","Medical Genetics"]
doi:10.7717/peerj.3935
3 citations
278 downloads
1,352 views

The prevalence of Type II Diabetes (T2D) has been increasing and has become a disease of significant public health burden in Jordan. None of the previous genome-wide association studies (GWAS) have specifically investigated the Middle East populations. The Circassian...

["Genetics","Genomics","Diabetes and Endocrinology","Medical Genetics"]
doi:10.7717/peerj.3618
3 citations
423 downloads
1,188 views

Background Molecularly targeted therapies improved survival status of some patients with lung adenocarcinoma, which accounts for 40% of all lung cancers, and in-depth study of gene alterations is important for the personalized treatment. Methods The legacy archive...

["Genetics","Oncology","Respiratory Medicine","Medical Genetics"]
doi:10.7717/peerj.3216
21 citations
644 downloads
2,165 views

Background. Fetal malformations and other structural abnormalities are relatively frequent findings in the course of routine prenatal ultrasonographic examination. Due to their considerable genetic and clinical heterogeneity, the underlying genetic cause is often...

["Genetics","Genomics","Medical Genetics"]
doi:10.7717/peerj.1955
4 citations
304 downloads
1,634 views

Crohn’s disease (CD) is a prominent type of inflammatory bowel disease (IBD) that can affect any part of the gastrointestinal tract. CD is known to have higher prevalence in the Western countries, but the number of cases has been increasing in the past decades...

["Genetics","Molecular Biology","Gastroenterology and Hepatology","Medical Genetics"]
doi:10.7717/peerj.1843
2 citations
238 downloads
1,165 views

Aims. Epistasis from gene set based on the function-related genes may confer to the susceptibility of type 2 diabetes (T2D). The Wnt pathway has been reported to play an important role in the pathogenesis of T2D. Here we applied tag SNPs to explore the association...

["Genetics","Genomics","Diabetes and Endocrinology","Medical Genetics"]
doi:10.7717/peerj.1304
5 citations
473 downloads
2,308 views

Transient Receptor Potential cation channel, subfamily Melastatin, member 8 (TRPM8) is involved in detection of cold temperature, different noxious compounds and in execution of thermo- as well as chemo-sensitive responses at cellular levels. Here we explored the...

["Cell Biology","Evolutionary Studies","Genetics","Genomics","Medical Genetics"]
doi:10.7717/peerj.1310
11 citations
858 downloads
2,982 views

Dilated cardiomyopathy is a prevalent and often fatal disease in humans and dogs. Indeed dilated cardiomyopathy is the third most common form of cardiac disease in humans, reported to affect approximately 36 individuals per 100,000 individuals. In dogs, dilated...

["Bioinformatics","Genetics","Veterinary Medicine","Cardiology","Medical Genetics"]
doi:10.7717/peerj.842
4 citations
875 downloads
2,115 views

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation analysis has been implemented for Cystic Fibrosis (CF) carrier screening, and molecular diagnosis of CF and congenital bilateral absence of the vas deferens (CBAVD). Although poly-T allele...

["Biotechnology","Genetics","Molecular Biology","Pathology","Medical Genetics"]
doi:10.7717/peerj.468
11 citations
1,010 downloads
3,499 views

Pendred syndrome (PDS) and DFNB4 comprise a phenotypic spectrum of sensorineural hearing loss disorders that typically result from biallelic mutations of the SLC26A4 gene. Although PDS and DFNB4 are recessively inherited, sequencing of the coding regions and splice...

["Genetics","Medical Genetics","Otorhinolaryngology","Pathology","Pediatrics"]
doi:10.7717/peerj.384
11 citations
935 downloads
2,766 views

Purpose. To design and validate a prenatal chromosomal microarray testing strategy that moves away from size-based detection thresholds, towards a more clinically relevant analysis, providing higher resolution than G-banded chromosomes but avoiding the detection...

["Genetics","Medical Genetics","Ethical Issues"]
doi:10.7717/peerj.354

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