Results 71 to 80 of about 591,252 (334)

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

Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant

Frontiers in Genetics
Nonketotic hyperglycinemia (NKH) is a rare, autosomal recessive metabolic disorder usually associated with mutations in genes AMT, GLDC or GCSH involved in the glycine cleavage complex.
Victor Marin, Louis Lebreton, Claire Guibet, Claire Guibet, Samir Mesli, Isabelle Redonnet-Vernhet, Mathurin Dexant, Delphine Lamireau, Sandrine Roche, Margaux Gaschignard, Jean Delmas, Henri Margot, Claire Bar   +12 more
doaj   +1 more source

Genetic association and Mendelian randomization for hypothyroidism highlight immune molecular mechanisms

iScience, 2022
Summary: We carried out a genome-wide association analysis including 51,194 cases of hypothyroidism and 443,383 controls. In total, 139 risk loci were associated to hypothyroidism with genes involved in lymphocyte function.
Samuel Mathieu, Mewen Briend, Erik Abner, Christian Couture, Zhonglin Li, Yohan Bossé, Sébastien Thériault, Tõnu Esko, Benoit J. Arsenault, Patrick Mathieu   +9 more
doaj  

DeepGestalt - Identifying Rare Genetic Syndromes Using Deep Learning [PDF]

arXiv, 2018
Facial analysis technologies have recently measured up to the capabilities of expert clinicians in syndrome identification. To date, these technologies could only identify phenotypes of a few diseases, limiting their role in clinical settings where hundreds of diagnoses must be considered.
arxiv  

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

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

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

A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies

Frontiers in Cardiovascular Medicine, 2016
Titin (TTN) is known as the largest sarcomeric protein that resides within the heart muscle. Due to alternative splicing of TTN the heart expresses two major isoforms (N2B and N2BA) that incorporate four distinct regions termed the Z-line, I-band, A-band,
Marta Gigli, Marta Gigli, Rene Begay, Gaetano Morea, Gaetano Morea, Sharon Graw, Gianfranco Sinagra, Matthew Taylor, Henk Granzier, Luisa Mestroni   +9 more
doaj   +1 more source

On‐treatment dynamics of circulating extracellular vesicles in the first‐line setting of patients with advanced non‐small cell lung cancer: the LEXOVE prospective study

Molecular Oncology, EarlyView.
The LEXOVE prospective study evaluated plasma cell‐free extracellular vesicle (cfEV) dynamics using Bradford assay and dynamic light scattering in metastatic non‐small cell lung cancer patients undergoing first‐line treatments, correlating a ∆cfEV < 20% with improved median progression‐free survival in responders versus non‐responders.
Valerio Gristina, Viviana Bazan, Nadia Barraco, Simona Taverna, Mauro Manno, Samuele Raccosta, Anna Paola Carreca, Marco Bono, Tancredi Didier Bazan Russo, Francesco Pepe, Pasquale Pisapia, Lorena Incorvaia, Giuseppe Badalamenti, Giancarlo Troncone, Umberto Malapelle, Daniele Santini, Antonio Russo, Antonio Galvano   +17 more
wiley   +1 more source

Searching PubMed for articles relevant to clinical interpretation of rare human genetic variants [PDF]

arXiv, 2016
Numerous challenges persist that delay clinical interpretation of human genetic variants, to name a few: (1) un- structured PubMed articles are the most abundant source of evidence, yet their variant annotations are difficult to query uniformly, (2) variants can be reported many different ways, for example as DNA sequence change or protein modification,
arxiv