Results 61 to 70 of about 1,824,368 (348)

Population testing for cancer predisposing BRCA1/BRCA2 mutations [PDF]

, 2014
Background: Technological advances raise the possibility of systematic population-based genetic testing for cancer-predisposing mutations, but it is uncertain whether benefits outweigh disadvantages.
Wardle, J
core  

Autophagy in cancer and protein conformational disorders

FEBS Letters, EarlyView.
Autophagy plays a crucial role in numerous biological processes, including protein and organelle quality control, development, immunity, and metabolism. Hence, dysregulation or mutations in autophagy‐related genes have been implicated in a wide range of human diseases.
Sergio Attanasio
wiley   +1 more source

Genetic testing of children for adult-onset conditions: opinions of the British adult population and implications for clinical practice

, 2014
This study set out to explore the attitudes of a representative sample of the British public towards genetic testing in children to predict disease in the future. We sought opinions about genetic testing for adult-onset conditions for which no prevention/
A Clarke, A Jolly, Angela Fenwick, Anneke M Lucassen, BA Bernhardt, D Craufurd, DC Wertzdagger, E Campbell, FS Collins, G Eysenbach, GJ Meissen, I Balfour-Lynn, JC Sapp, JM Taber, L Henneman, ME Fallat, O Järvinen, O Järvinen, P Borry, P Borry, P Borry, R Rhodes, RE Duncan, S Dalby, S Robertson, S Shkedi-Rafid, Sandi Dheensa, Shiri Shkedi-Rafid   +27 more
core   +1 more source

Protonophore activity of short‐chain fatty acids induces their intracellular accumulation and acidification

FEBS Letters, EarlyView.
The protonated form of butyrate, as well as other short‐chain fatty acids (SCFAs), is membrane permeable. In acidic extracellular environments, this can lead to intracellular accumulation of SCFAs and cytosolic acidification. This phenomenon will be particularly relevant in acidic environments such as the large intestine or tumor microenvironments ...
Muwei Jiang, Frans Bianchi, Geert van den Bogaart   +2 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

Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features. [PDF]

, 2016
Purpose:To report atypical presentation of neuronal ceroid lipofuscinoses type 8 (CLN8) to the eye clinic and review clinical features of CLN8. Observations:Detailed eye exam by slit lamp exam, indirect ophthalmoscopy, fundus photography, optical ...
Collins, Christin D, Mierau, Gary, Richards, Sarah, Sanchez, Rossana L, Shankar, Suma P, Wartchow, Eric P, Yan, Jiong   +6 more
core   +2 more sources

A stepwise emergence of evolution in the RNA world

FEBS Letters, EarlyView.
How did biological evolution emerge from chemical reactions? This perspective proposes a gradual scenario of self‐organization among RNA molecules, where catalytic feedback on random mixtures plays the central role. Short oligomers cross‐ligate, and self‐assembly enables heritable variations. An event of template‐externalization marks the transition to
Philippe Nghe
wiley   +1 more source

The gut microbiota–brain axis in neurological disorders

MedComm
Previous studies have shown a bidirectional communication between human gut microbiota and the brain, known as the microbiota–gut–brain axis (MGBA). The MGBA influences the host's nervous system development, emotional regulation, and cognitive function ...
Mingming You, Nan Chen, Yuanyuan Yang, Lingjun Cheng, Hongzhang He, Yanhua Cai, Yating Liu, Haiyue Liu, Guolin Hong   +8 more
doaj   +1 more source

Ethical qualms about genetic prognosis [PDF]

, 2016
The debate about direct-to-consumer genetic testing has centred on whether consumers are the best judges of their own clinical care. Inthis article, I also examine whether the science of personalized medicine is really as advanced as its proponents
Dickenson, Donna
core   +1 more source

Modifications in FLAP's second cytosolic loop influence 5‐LOX interaction, inhibitor binding, and leukotriene formation

FEBS Letters, EarlyView.
The enzyme 5‐lipoxygenase (5‐LOX) catalyzes the first step in the biosynthesis of leukotrienes (LTs) involved in inflammatory pathophysiology. After cellular stimulation, 5‐LOX translocates to the nucleus, interacting with the 5‐LOX‐activating protein (FLAP) to form LTA4 from arachidonic acid (AA).
Erik Romp, Katharina Rataj, Stefanie König, Marcia E. Newcomer, Oliver Werz, Ulrike Garscha   +5 more
wiley   +1 more source