Peer-reviewed Articles - Medicine

99 downloads
713 views

The past two decades have brought many important advances in our understanding of the hereditary susceptibility to cancer. Numerous studies have provided convincing evidence that identification of germline mutations associated with hereditary cancer syndromes can...

["Genomics","Oncology","Medical Genetics"]
doi:10.7717/peerj.3046
48 downloads
220 views

Previous studies have investigated the association between cytotoxic T-lymphocyte antigen-4 (CTLA-4) polymorphisms and breast cancer susceptibility, but the results remained inconsistent. Therefore, we evaluated the relationship between four common CTLA-4 polymorphisms...

["Evidence Based Medicine","Oncology","Medical Genetics"]
doi:10.7717/peerj.2815
148 downloads
473 views

Background Several genes and their single nucleotide polymorphisms (SNPs) are associated with either spontaneous resolution of hepatitis C infection or better treatment-induced viral clearance. We tested a cohort of intravenous drug users (IVDU) diagnosed with...

["Gastroenterology and Hepatology","Immunology","Infectious Diseases","Medical Genetics"]
doi:10.7717/peerj.2576
5 citations
381 downloads
1,063 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
236 downloads
682 views

Background: Chronic kidney disease (CKD) is a condition associated with progressive loss of kidney function and kidney damage. The two common causes of CKD are diabetes mellitus and hypertension. Other causes of CKD also include polycystic kidney disease, obstructive...

["Diabetes and Endocrinology","Nephrology","Medical Genetics"]
doi:10.7717/peerj.1908
2 citations
126 downloads
793 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
1 citation
162 downloads
650 views

Background. Prostate cancer makes up approximately 15% of all cancers diagnosed in men in developed nations and approximately 4% of cases in developing nations. Although it is clear that prostate cancer has a genetic component and single nucleotide polymorphisms...

["Oncology","Urology","Medical Genetics"]
doi:10.7717/peerj.1731
135 downloads
512 views

In January 2012, a review of the cases of chromosome 15q24 microdeletion syndrome was published. However, this study did not include inferential statistics. The aims of the present study were to update the literature search and calculate confidence intervals for...

["Epidemiology","Statistics","Medical genetics"]
doi:10.7717/peerj.1641
1 citation
266 downloads
721 views

Anxiety disorders (ADs) are disabling chronic disorders with exaggerated behavioral response to threats. This study was aimed at testing the hypothesis that ADs may be associated with reduced neurotrophic activity, particularly of Brain-derived neurotrophic factor...

["Genomics","Neuroscience","Global Health","Psychiatry and Psychology","Medical Genetics"]
doi:10.7717/peerj.1252
130 downloads
534 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
3 citations
286 downloads
1,243 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
1 citation
266 downloads
854 views

Osteoporosis is a polygenic disorder that is determined by the effects of several genes, each with relatively modest effects on bone mass. The aim of this study was to determine whether the vitamin D receptor single nucleotide polymorphism BsmI is associated with...

["Diabetes and Endocrinology","Women\u2019s Health","Medical Genetics"]
doi:10.7717/peerj.953
5 citations
580 downloads
1,520 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
1 citation
674 downloads
1,155 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
6 citations
712 downloads
2,252 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

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