Results 221 to 230 of about 7,411,908 (274)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

CT-based hepatic and splenic extracellular volume fraction and iodine washout rate for noninvasive assessment of portal hypertension: a preliminary study. [PDF]

BMC Med Imaging
Li J, Gao L, Wang B, Yang Q, Zhang X, Lei J.   +5 more
europepmc   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

BAR-PH tandem of ACAP4 remodels membranes to drive migration via Ezrin-dependent activation. [PDF]

J Mol Cell Biol
Huang S, Chen J, Wang X, Song X, Zhu X, Fu C, Zhang X, Liu X, Wang C.   +8 more
europepmc   +1 more source

Impact of Positive Lifestyle Behaviors on Direct Health Care Cost Savings for Low Back Pain

Arthritis Care &Research, EarlyView.
Objective This study aimed to investigate the relationship between a previously purpose‐developed lifestyle behavior scale and health care cost savings related to low back pain (LBP). Methods This longitudinal study used data from the Australian Twin Back (AUTBACK) study. LBP and lifestyle behavior measures were collected at baseline. Physical activity
Ye Tian, Katharine E. Roberts, Michelle Hall, Paula R. Beckenkamp, Angelo Sabag, Karoline Moe, Ana Paula Carvalho‐e‐Silva, Emily J. Callander, Paulo H. Ferreira   +8 more
wiley   +1 more source

Integrated sustainable valorization of seaweed (Ulva ohnoi) biomass into food-grade ingredients with year-round cultivated feedstock. [PDF]

Bioresour Bioprocess
Sunwoo IY, Kim T, Ryu YK, Lee WK, Kim J, Koh EJ, Lee YJ, Choi WY.   +7 more
europepmc   +1 more source

Hunting for Extremophiles: A Systematic Screening of Freshwater Microalgae for Tolerance to High-pH and High-Alkalinity Cultivation. [PDF]

ACS Sustain Chem Eng
Thomas PK, Gerlach R, Narwani A.
europepmc   +1 more source

Safety of cardiopulmonary exercise testing in pulmonary hypertension: insights from a UK tertiary referral centre. [PDF]

Eur Respir J
Baccelli A, Haji G, Tighe H, Howard LS.
europepmc   +1 more source