Results 161 to 170 of about 13,191,301 (426)

Unlocking the potential of tumor‐derived DNA in urine for cancer detection: methodological challenges and opportunities

open access: yesMolecular Oncology, EarlyView.
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]

open access: yesNeuroRX, 2004
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

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China

open access: yesMolecular Genetics & Genomic Medicine, 2019
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.

open access: yesJournal of the American Medical Association (JAMA), 2016
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

Identification of functional and diverse circulating cancer‐associated fibroblasts in metastatic castration‐naïve prostate cancer patients

open access: yesMolecular Oncology, EarlyView.
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]

open access: yesStroke, 2004
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]

open access: yesarXiv, 2011
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

open access: yesWiley Interdisciplinary Reviews - RNA, 2016
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

Clinical applications of next‐generation sequencing‐based ctDNA analyses in breast cancer: defining treatment targets and dynamic changes during disease progression

open access: yesMolecular Oncology, EarlyView.
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]

open access: yes, 2019
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  

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