Results 41 to 50 of about 110,863 (301)

An association study on contrasting cystic fibrosis endophenotypes recognizes KRT8 but not KRT18 as a modifier of cystic fibrosis disease severity and CFTR mediated residual chloride secretion

BMC Medical Genetics, 2011
Background F508del-CFTR, the most frequent disease-causing mutation among Caucasian cystic fibrosis (CF) patients, has been characterised as a mutant defective in protein folding, processing and trafficking.
Becker Tim, Hedtfeld Silke, Stanke Frauke, Tümmler Burkhard   +3 more
doaj   +1 more source

pH‐mediated activation of the lysosomal arginine sensor SLC38A9

FEBS Letters, EarlyView.
Cells monitor nutrient levels via the lysosomal transporter SLC38A9 to activate the mechanistic target of rapamycin complex 1 (mTORC1). This study reveals that SLC38A9 function is regulated by pH. We identified histidine 544 as a critical pH sensor that undergoes conformational changes to control amino acid efflux from lysosomes; therefore, it ...
Xuelang Mu, Ampon Sae Her, Tamir Gonen
wiley   +1 more source

Cerumen microbial community shifts between healthy and otitis affected dogs.

PLoS ONE, 2020
Otitis externa is a common multifactorial disease in dogs, characterized by broad and complex modifications of the ear microbiota. The goal of our study was to describe the ear cerumen microbiota of healthy dogs, within the same animal and between ...
Giorgia Borriello, Rubina Paradiso, Carlotta Catozzi, Roberta Brunetti, Paola Roccabianca, Marita Georgia Riccardi, Bianca Cecere, Cristina Lecchi, Giovanna Fusco, Fabrizio Ceciliani, Giorgio Galiero   +10 more
doaj   +1 more source

Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations

FEBS Letters, EarlyView.
The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas, Brigitta Maruzs, Zsófia E. Kálmán, Tomas Klumpler, Gyula Batta, Bálint Péterfia, Zoltán Gáspári   +6 more
wiley   +1 more source

Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned [PDF]

, 2010
Major depressive disorder (MDD) is a common complex disorder with a partly genetic etiology. We conducted a genome-wide association study of the MDD2000+ sample (2431 cases, 3673 screened controls and >1 M imputed single-nucleotide polymorphisms (SNPs)).
D I Boomsma, Maclean, A. W., Sullivan, P.F., Sullivan, P F, G Willemsen, de Geus, E.J.C., D J Statham, Willemsen, G.; id_orcid, Gordon, SD, Penninx, BWJH, Smit, J H, Medland, S E, Maclean, A.W., S E Medland, Penninx, B. W. J. H., van den Oord, E J C G, Montgomery, G W, Pergadia, M L, Byrne, E.M., Heath, A.C., Martin, N.G., MacIntyre, Donald; id_orcid, Hickie, I.B., Statham, D.J., C M Middeldorp, E M Byrne, B W J H Penninx, Nyholt, D.R., J J Hottenga, J H Smit, A K Henders, Blackwood, D.H., Liu, J. Z., N G Martin, A W Maclean, Lewis, C.M., Montgomery, G. W., McGuffin, P, S D Gordon, McEvoy, B.P., MacIntyre, D J, McGhee, K A, P A F Madden, MacIntyre, D J; id_orcid, Pergadia, M. L., van den Oord, E.J., McEvoy, B P, Gordon, S.D., Martin, N. G., D H R Blackwood, P F Sullivan, De Geus, E. J. C., Montgomery, G.W., Hottenga, J.J., Hickie, I. B., McGhee, K.A., Medland, S. E., C M Lewis, J Z Liu, Gordon, S D, Smit, J. H., Boomsma, D. I., Hottenga, J. J., Smit, J.H., Middeldorp, C.M., Ripke, S., M L Pergadia, Hickie, I B, de Geus, E.J., Wray, NR, Van Den Oord, E. J. C. G., Wray, N. R., Blackwood, DHR, de Geus, E J C, Penninx, B.W., B P McEvoy, McGhee, K. A., Middeldorp, C. M., Byrne, E. M., McEvoy, B. P., Macgregor, S, E J C G van den Oord, Statham, D J, Heath, A C, Lewis, C. M., van den Oord, E.J.C.G., I B Hickie, Willemsen, G., Pergadia, M.L., Medland, S.E., Sullivan, P. F., Penninx, B.W.J.H., Heath, A. C., Maclean, AW, Nyholt, D. R., N R Wray, S Macgregor, MacIntyre, DJ, Boomsma, D.I., G W Montgomery, Lewis, C M, Henders, A K, Madden, P. A. F., Madden, P.A.F., Henders, A.K., Hottenga, J J, McGuffin, P., Boomsma, D I, Madden, P.A., de Geus, E.J.C.; id_orcid, Oord, E.J.C.G. van den, Henders, A. K., Wray, N R, Madden, P A F, E J C de Geus, Pergadia, ML, D R Nyholt, Maclean, A W, Ripke, S, A C Heath, Ripke, Stephan, MacIntyre, D. J., Geus, E.J.C. de, Blackwood, D. H. R., Statham, D. J., Penninx, B W J H, Macgregor, S., Gordon, S. D., McGhee, KA, D J MacIntyre, Nyholt, D R, Wray, N.R., Middeldorp, C M, Liu, J Z, S Ripke, K A McGhee, P McGuffin, Nyholt, DR, Willemsen, G, Boomsma, D.I.; id_orcid, Lewis, C. M.; id_orcid, Martin, N G, Blackwood, D H R, Liu, J.Z., Byrne, E M, MacIntyre, D.J.   +145 more
core   +1 more source

Electron transfer between complexes III and IV in S. cerevisiae mitochondrial membranes

FEBS Letters, EarlyView.
Mitochondrial oxidative phosphorylation in S. cerevisiae mitoplasts is limited by complex IV catalytic capacity, rather than two‐dimensional cytochrome c diffusion. At physiological cytochrome c : supercomplex ratios at salinity equivalent to that of 20 mm monovalent salt, activity is maximized, indicating that this low ionic strength accurately mimics
Ana Paula Lobez, Mikael Oliveberg, Peter Brzezinski   +2 more
wiley   +1 more source

Dynamics of Na+-Cl-, Na+-Na+, and Cl--Cl- ion pairs in dimethyl sulfoxide: Friction kernels and transmission coefficients

, 1997
The dynamics of association of Na+-Cl-, Na+-Na+, and Cl--Cl- ion pairs in liquid dimethyl sulfoxide is studied by using the method of constrained molecular dynamics.
MADHUSOODANAN, M, TEMBE, BL, DAS, AK
core   +1 more source

Ion hydration and association in aqueous solutions of zinc sulfate by dielectric spectroscopy

, 2023
Aqueous solutions of zinc sulfate, ZnSO4(aq), have been studied at 25 degrees C by dielectric relaxation spectroscopy (DRS) over the frequency range 0.2 & LE; /GHz & LE; 89 at concentrations 0.04 & LE; /molL-1 & LE; 2.4.
Hefter, Glenn, Richard Buchner, Glenn Hefter, Buchner, Richard   +3 more
core   +1 more source

Heritability and Genome-Wide Association Analyses of Serum Uric Acid in Middle and Old-Aged Chinese Twins

Frontiers in Endocrinology, 2018
Serum uric acid (SUA), as the end product of purine metabolism, has proven emerging roles in human disorders. Here based on a sample of 379 middle and old-aged Chinese twin pairs, we aimed to explore the magnitude of genetic impact on SUA variation by ...
Weijing Wang, Weijing Wang, Dongfeng Zhang, Chunsheng Xu, Chunsheng Xu, Chunsheng Xu, Yili Wu, Haiping Duan, Haiping Duan, Shuxia Li, Qihua Tan, Qihua Tan   +11 more
doaj   +1 more source

Salmonella lipopolysaccharide‐containing supported lipid bilayers as platforms to study bacteriophage interactions

FEBS Letters, EarlyView.
We present robust protocols for the preparation of supported lipid bilayers (SLBs) incorporating either Salmonella smooth LPS or outer membrane vesicles (OMVs). We use a combination of quartz crystal microbalance with dissipation (QCM‐D) and fluorescence microscopy to both characterize the SLBs of various compositions and to probe their interactions ...
Hudson P. Pace, Alyssa Borges, Charles Arnaud, Tove Karlsson, Nina K. Bröker, Stefanie Barbirz, Marta Bally   +6 more
wiley   +1 more source