Results 101 to 110 of about 938,616 (362)

Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia [PDF]

, 2015
Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a difficult-to-diagnose cause of sudden cardiac death (SCD). We identified a family of 1400 individuals with multiple cases of CPVT, including 36 SCDs during youth.
Allegue, Catarina, Beltran-Alvarez, Pedro, Berne, Paola, Bosch Calero, Cristina, Brugada, Josep, Brugada, Ramon, Campuzano, Oscar, Iglesias, Anna, Pérez, Carmelo, Pérez, Guillermo J., Ruiz Hernandez, Pablo M., Scornik, Fabiana S., Wangüemert, Fernando   +12 more
core   +2 more sources

Development of visible light‐sensitive human neuropsin (OPN5) via single amino acid substitution

FEBS Letters, EarlyView.
The present study determines a key amino acid residue, Lys91, for defining UV sensitivity of human OPN5. Heterologous action spectroscopy of the wild type and K91 mutants of OPN5 in HEK293T cells reveals that substitution of Lys91 with neutral (alanine) or acidic amino acids (glutamic or aspartic acids) causes substantial shifts in spectral sensitivity
Yusuke Sakai, Richard J. McDowell, Robert J. Lucas   +2 more
wiley   +1 more source

Exploring lipid diversity and minimalism to define membrane requirements for synthetic cells

FEBS Letters, EarlyView.
Designing the lipid membrane of synthetic cells is a complex task, in which its various roles (among them solute transport, membrane protein support, and self‐replication) should all be integrated. In this review, we report the latest top‐down and bottom‐up advances and discuss compatibility and complexity issues of current engineering approaches ...
Sergiy Gan, Victoria Scarpelli, Marten Exterkate   +2 more
wiley   +1 more source

Ex vivo innate immune cytokine signature of enhanced risk of relapsing brucellosis. [PDF]

, 2013
BackgroundBrucellosis, a zoonotic infection caused by one of the Gram-negative intracellular bacteria of the Brucella genus, is an ongoing public health problem in Perú.
Feldman, Kristyn E, Gilman, Robert H, Gotuzzo, Eduardo, Hoffmann, Alexander, Loriaux, Paul M, Saito, Mayuko, Siva, Tenaya, Tuero, Iskra, Villaverde, Homarh, Vinetz, Joseph M   +9 more
core   +3 more sources

Ergothioneine supplementation improves pup phenotype and survival in a murine model of spinal muscular atrophy

FEBS Letters, EarlyView.
Spinal muscular atrophy (SMA) is a genetic disease affecting motor neurons. Individuals with SMA experience mitochondrial dysfunction and oxidative stress. The aim of the study was to investigate the effect of an antioxidant and neuroprotective substance, ergothioneine (ERGO), on an SMNΔ7 mouse model of SMA.
Francesca Cadile, Daniela Ratto, Giorgia Rastelli, Ottavia Eleonora Ferraro, Caterina Temporini, Sunil Kumar, Simona Boncompagni, Paola Rossi, Monica Canepari   +8 more
wiley   +1 more source

Ambient but not local lactate underlies neuronal tolerance to prolonged glucose deprivation [PDF]

, 2018
Neurons require a nearly constant supply of ATP. Glucose is the predominant source of brain ATP, but the direct effects of prolonged glucose deprivation on neuronal viability and function remain unclear.
Mennerick, Steven, Shu, Hong-Jin, Sobieski, Courtney, Warikoo, Natasha   +3 more
core   +3 more sources

Microbial exopolysaccharide production by polyextremophiles in the adaptation to multiple extremes

FEBS Letters, EarlyView.
Polyextremophiles are microorganisms that endure multiple extreme conditions by various adaptation strategies that also include the production of exopolysaccharides (EPSs). This review provides an integrated perspective on EPS biosynthesis, function, and regulation in these organisms, emphasizing their critical role in survival and highlighting their ...
Tracey M Gloster, Ebru Toksoy Öner
wiley   +1 more source

Facklamia hominis in hidradenitis suppurativa

JAAD Case Reports, 2021
Yasmeen Basal, DO, Jerry Oommen, DO, Usama Faraj, DO, Robert Acho, DO, Amitha Aravapally, MD   +4 more
doaj   +1 more source

Selegiline remarkably improved stage 5 treatment-resistant major depressive disorder: a case report

Neuropsychiatric Disease and Treatment, 2013
Yuji Kitaichi,1 Takeshi Inoue,1 Nobuyuki Mitsui,1 Shin Nakagawa,1 Rie Kameyama,1 Yoshiyuki Hayashishita,1 Tohru Shiga,2 Ichiro Kusumi,1 Tsukasa Koyama1 1Department of Psychiatry, Graduate School of Medicine, Hokkaido University, Sapporo, Japan ...
Kitaichi Y, Inoue T, Mitsui N, Nakagawa S, Kameyama R, Hayashishita Y, Shiga T, Kusumi I, Koyama T   +8 more
doaj  

Cell‐free DNA aneuploidy score as a dynamic early response marker in prostate cancer

Molecular Oncology, EarlyView.
mFast‐SeqS‐based genome‐wide aneuploidy scores are concordant with aneuploidy scores obtained by whole genome sequencing from tumor tissue and can predict response to ARSI treatment at baseline and, at an early time point, to ARSI and taxanes. This assay can be easily performed at low cost and requires little input of cfDNA. Cell‐free circulating tumor
Khrystany T. Isebia, Anouk C. de Jong, Lisanne F. van Dessel, Vanja de Weerd, Corine Beaufort, Jean Helmijr, José Alberto Nakauma‐González, Job van Riet, Paul Hamberg, Daniel Vis, Michiel S. van der Heijden, Nick Beije, Martijn P. Lolkema, Teoman Deger, Saskia M. Wilting, Ronald de Wit, Maurice P. H. M. Jansen, John W. M. Martens   +17 more
wiley   +1 more source