Results 101 to 110 of about 649,887 (338)

Association between venous thromboembolism‐associated genetic variants, coagulation factor levels, and thrombin generation potential

eJHaem
Recently three large meta‐analyses of genome‐wide association studies for venous thromboembolism (VTE) identified over 130 genetic variants. However, mechanisms by which newly identified and therefore underexplored VTE‐associated genetic variants ...
Jihee Han, Ruifang Li‐Gao, Renée deMutsert, Frits R. Rosendaal, Astrid vanHylckama Vlieg   +4 more
doaj   +1 more source

Circulating tumor cells: advancing personalized therapy in small cell lung cancer patients

Molecular Oncology, EarlyView.
Small cell lung cancer (SCLC) is an aggressive form of lung cancer that spreads rapidly to secondary sites such as the brain and liver. Cancer cells circulating in the blood, “circulating tumor cells” (CTCs), have demonstrated prognostic value in SCLC, and evaluating biomarkers on CTCs could guide treatment decisions such as for PARP inhibitors ...
Prajwol Shrestha, Steven Kao, Veronica K. Cheung, Wendy A. Cooper, Nico van Zandwijk, John E. J. Rasko, Dannel Yeo   +6 more
wiley   +1 more source

An Efficient Sufficient Dimension Reduction Method for Identifying Genetic Variants of Clinical Significance [PDF]

arXiv, 2013
Fast and cheaper next generation sequencing technologies will generate unprecedentedly massive and highly-dimensional genomic and epigenomic variation data. In the near future, a routine part of medical record will include the sequenced genomes. A fundamental question is how to efficiently extract genomic and epigenomic variants of clinical utility ...
arxiv  

KCNK17 genetic variants in ischemic stroke

Atherosclerosis, 2010
Genetic factors contribute to the development of ischemic stroke (IS). In order to identify susceptibility variants, we analyzed single nucleotide polymorphisms (SNPs) that had been previously linked to stroke in a genome-wide association study.We analyzed 12 SNPs in a White population comprising IS patients and healthy controls.
Marta Rubiera, Natalia Corbeto, Joaquín Serena, Pilar Delgado, Israel Fernandez-Cadenas, Marc Ribó, Victor Obach, Jèssica Fernández-Morales, M. Freijo, Joan Montaner, Sophie Domingues-Montanari, Joan Martí-Fàbregas, Alberto del Río-Espínola, Maite Mendioroz   +13 more
openaire   +4 more sources

A comparative study of circulating tumor cell isolation and enumeration technologies in lung cancer

Molecular Oncology, EarlyView.
Lung cancer cells were spiked into donor blood to evaluate the recovery rates of the following circulating tumor cell (CTC) enrichment technologies: CellMag™, EasySep™, RosetteSep™, Parsortix® PR1, and Parsortix® Prototype systems. Each method's advantages and disadvantages are described.
Volga M Saini, Ezgi Oner, Mark P. Ward, Sinead Hurley, Brian David Henderson, Faye Lewis, Stephen P. Finn, Gerard J. Fitzmaurice, John J. O'Leary, Sharon O'Toole, Lorraine O'Driscoll, Kathy Gately   +11 more
wiley   +1 more source

A Spectral Graph Approach to Discovering Genetic Ancestry [PDF]

Annals of Applied Statistics, 4(1), 179-201, 2010, 2009
Mapping human genetic variation is fundamentally interesting in fields such as anthropology and forensic inference. At the same time patterns of genetic diversity confound efforts to determine the genetic basis of complex disease. Due to technological advances it is now possible to measure hundreds of thousands of genetic variants per individual across
arxiv  

Cell‐free and extracellular vesicle microRNAs with clinical utility for solid tumors

Molecular Oncology, EarlyView.
Cell‐free microRNAs (cfmiRs) are small‐RNA circulating molecules detectable in almost all body biofluids. Innovative technologies have improved the application of cfmiRs to oncology, with a focus on clinical needs for different solid tumors, but with emphasis on diagnosis, prognosis, cancer recurrence, as well as treatment monitoring.
Yoshinori Hayashi, Janelle‐Cheri Millen, Romela Irene Ramos, Jennifer A. Linehan, Timothy G. Wilson, Dave S. B. Hoon, Matias A. Bustos   +6 more
wiley   +1 more source

Molecular genetics of Dupuytren’s contracture

EFORT Open Reviews
Dupuytren’s contracture (DC) is a fibroproliferative disorder of the palmar fascia characterised by the digits’ flexion contractures and is associated with abnormal build-up of type III collagen.
Shankar Aissvarya, King-Hwa Ling, Manohar Arumugam, Karuppiah Thilakavathy   +3 more
doaj   +1 more source

Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.

PLoS ONE, 2018
Genetic heterogeneity of common genetic generalized epilepsy syndromes is frequently considered. The present study conducted a focused analysis of potential candidate or susceptibility genes for common genetic generalized epilepsy syndromes using multi ...
Cha Gon Lee, Jeehun Lee, Munhyang Lee
doaj   +1 more source

KRAS and GNAS mutations in cell‐free DNA and in circulating epithelial cells in patients with intraductal papillary mucinous neoplasms—an observational pilot study

Molecular Oncology, EarlyView.
This study demonstrates that KRAS and GNAS mutations are more prevalent in patients with resected intraductal papillary mucinous neoplasms (IPMN) compared to those under clinical surveillance. GNAS mutations significantly differ between the two patient cohorts, indicating that their absence may serve as a potential biomarker to support conservative ...
Christine Nitschke, Marie Tölle, Philipp Walter, Kira Meißner, Mara Goetz, Jolanthe Kropidlowski, Andreas W. Berger, Jakob R. Izbicki, Felix Nickel, Thilo Hackert, Klaus Pantel, Harriet Wikman, Faik G. Uzunoglu   +12 more
wiley   +1 more source