Results 31 to 40 of about 912,080 (293)

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines [PDF]

, 2022
Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L. Alston, Cathy E. Woodward, Conrad Smith, Charlotte V. Y. Knowles, Yogen Patel, Philip Hodsdon, Jack P. Baines, Emma L. Blakely, James M. Polke, Robert W. Taylor, Carl Fratter   +13 more
openalex   +1 more source

Linked dimers of the AAA+ ATPase Msp1 reveal energetic demands and mechanistic plasticity for substrate extraction from lipid bilayers

FEBS Letters, EarlyView.
Cells must clear mislocalized or faulty proteins from membranes to survive. The AAA+ ATPase Msp1 performs this task, but dissecting how its six subunits work together is challenging. We engineered linked dimers with varied numbers of functional subunits to reveal how Msp1 subunits cooperate and use energy to extract proteins from the lipid bilayer ...
Deepika Gaur, Brian Acquaviva, Baylee A. Smith, Nathan Walker, Isabella Walter, Matthew L. Wohlever   +5 more
wiley   +1 more source

Gene expression-based dissection of inter-histotypes, intra-histotype and intra-tumor heterogeneity in pediatric tumors

Scientific Reports, 2022
Intra-tumor heterogeneity (ITH) fosters tumor evolution, resistance to therapy, and relapse. Recently, many evidence have been accumulated on the occurrence of genetic ITH in pediatric cancers.
Sara Ciceri, Andrea Carenzo, Maria Federica Iannó, Alessia Bertolotti, Carlo Morosi, Roberto Luksch, Filippo Spreafico, Paola Collini, Paolo Radice, Maura Massimino, Loris De Cecco, Daniela Perotti   +11 more
doaj   +1 more source

Genetic testing in children

Indian Pediatrics, 2013
Increasing availability of DNA based tests in clinical practice has lead to widespread debate on the ethical issues involved. The wider usage of these tests in children has raised many questions regarding the ethics, validity of the request and its effects on childs psychosocial well-being.
Shubha, Phadke, Mamatha, Gowda
openaire   +2 more sources

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Privacy and Pandemics [PDF]

Journal of Constitutional Law, 2020
The beginning of 2020 marked an unexpected turn for the world, the global pandemic of COVID-19 has affected every aspect of life. It has also created an unprecedented opportunity for governments to justify the expansion of their surveillance and ...
Clarisa Long
doaj  

Genetic Testing for Pheochromocytoma [PDF]

Current Hypertension Reports, 2010
Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare, catecholamine-producing tumors that are usually sporadic. However, about 30% of these tumors have been identified as being of inherited origin. To date, nine genes have been confirmed as participating in PHEO or PGL tumorigenesis.
David, Karasek, Zdenek, Frysak, Karel, Pacak   +2 more
openaire   +2 more sources

CCT4 promotes tunneling nanotube formation

FEBS Letters, EarlyView.
Tunneling nanotubes (TNTs) are membranous tunnel‐like structures that transport molecules and organelles between cells. They vary in thickness, and thick nanotubes often contain microtubules in addition to actin fibers. We found that cells expressing monomeric CCT4 generate many thick TNTs with tubulin.
Miyu Enomoto, Akiko Asada, Taro Saito, Kanae Ando   +3 more
wiley   +1 more source

Comparison of analytical performance and economic value of two biosurveillance methods for tracking SARS-COV-2 variants of concern

Microbiology Spectrum
The development of biosurveillance programs with strong analytical performance and economically accessible protocols is essential for monitoring viral pathogens.
Nicholas P. Pinkhover, Kerriann M. Pontbriand, Kelli P. Fletcher, Eduardo Sanchez, Kenneth Okello, Liam M. Garvey, Alex Pum, Kurvin Li, Gabriel DeOliveira, Teddie Proctor, Jelena D. M. Feenstra, Océane Sorel, Manoj Gandhi, Jared R. Auclair   +13 more
doaj   +1 more source

Autoinflammatory Reaction in Dogs Treated for Cancer via G6PD Inhibition

Case Reports in Veterinary Medicine, 2017
Glucose-6-phosphate dehydrogenase (G6PD) is an oncoprotein that is overexpressed in cancer cells to provide the NADPH required for their increased anabolism. NADPH, sourced from G6PD fuels nucleotide biosynthesis, maintains redox potential of thioredoxin
Jonathan W. Nyce
doaj   +1 more source