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Urine is a rich source of biomarkers for cancer detection. Tumor‐derived material is released into the bloodstream and transported to the urine. Urine can easily be collected from individuals, allowing non‐invasive cancer detection. This review discusses the rationale behind urine‐based cancer detection and its potential for cancer diagnostics ...
Birgit M. M. Wever+1 more
wiley +1 more source
Huntington’s disease genetics [PDF]
Huntington's disease (HD) is a dominantly transmitted neurodegenerative disorder with wide variation in onset age but with an average age at onset of 40 years. Children of HD gene carriers have a 50% chance of inheriting the disease. The characteristic symptoms of HD are involuntary choreiform movements, cognitive impairment, mood disorders, and ...
openaire +3 more sources
Background Deletional hereditary persistence of fetal hemoglobin (HPFH)/δβ‐thalassemia and δ‐thalassemia are rare inherited disorders which may complicate the diagnosis of β‐thalassemia.
Jie Zhang+13 more
doaj +1 more source
Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening.
IMPORTANCE Screening for carrier status of a limited number of single-gene conditions is the current standard of prenatal care. Methods have become available allowing rapid expanded carrier screening for a substantial number of conditions.
I. Haque+5 more
semanticscholar +1 more source
Cancer‐associated fibroblasts (CAFs) promote cancer growth, invasion (metastasis), and drug resistance. Here, we identified functional and diverse circulating CAFs (cCAFs) in patients with metastatic prostate cancer (mPCa). cCAFs were found in higher numbers and were functional and diverse in mPCa patients versus healthy individuals, suggesting their ...
Richell Booijink+6 more
wiley +1 more source
Genetics of Cerebrovascular Disease [PDF]
Stroke is a complex disease, with both genetic and environmental factors having a role in its pathogenesis. A review of past studies shows some evidence of genetic influences in the development of stroke. This is supported by studies of cardiovascular disease, which indicate major genetic influences at several levels including the development of risk ...
openaire +4 more sources
GemTools: A fast and efficient approach to estimating genetic ancestry [PDF]
To uncover the genetic basis of complex disease, individuals are often measured at a large number of genetic variants (usually SNPs) across the genome. GemTools provides computationally efficient tools for modeling genetic ancestry based on SNP genotypes.
arxiv
mRNA trans‐splicing in gene therapy for genetic diseases
Spliceosome‐mediated RNA trans‐splicing, or SMaRT, is a promising strategy to design innovative gene therapy solutions for currently intractable genetic diseases.
Adeline Berger+5 more
semanticscholar +1 more source
Circulating tumor DNA (ctDNA) offers a possibility for different applications in early and late stage breast cancer management. In early breast cancer tumor informed approaches are increasingly used for detecting molecular residual disease (MRD) and early recurrence. In advanced stage, ctDNA provides a possibility for monitoring disease progression and
Eva Valentina Klocker+14 more
wiley +1 more source
Role of Epidemiological Studies in Disease Prevention [PDF]
Today's society is full of disease that are of different natures including genetic, infectious and metabolic etc. Every disease has its own mechanisms of affecting humans and different prevention mechanisms as per disease nature.
Akthar, M. S. (Muhammad)
core