Results 231 to 240 of about 607,966 (294)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

Major features of parasite adaptation revealed by genomes of Plasmodium falciparum population samples archived for over 50 years. [PDF]

Commun Biol
Amambua-Ngwa A, Diop MF, Drakeley CJ, d'Alessandro U, Kwiatkowski DP, Conway DJ.   +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

Accurate detection and density estimation of peach tree inflorescences using an improved YOLOv11 model. [PDF]

Front Plant Sci
Ji J, Lu X, Ma H, Lu X, Yang Y, Cui H, Yu M, Xie X.   +7 more
europepmc   +1 more source

MCC: automated mass and charge curation at the genome scale applied to <i>C. tuberculostearicum</i>. [PDF]

Microbiol Spectr
Mostolizadeh R, Mier F, Dräger A.
europepmc   +1 more source

SimpleKANSleepNet: a Kolmogorov-Arnold network based sleep stage classification method. [PDF]

Front Bioinform
Ji X, Wang L, Zhou Y.
europepmc   +1 more source

Parabolic-elliptic and indirect-direct simplifications in chemotaxis systems driven by indirect signalling. [PDF]

Calc Var Partial Differ Equ
Bui LTT, Huynh TKL, Tang BQ, Tran BN.
europepmc   +1 more source

Three are better than two: redefining prophylaxis for postoperative nausea and vomiting. [PDF]

J Minim Invasive Surg
Kang H.
europepmc   +1 more source

A novel high-gain isolated quasi Z-source DC-DC converter with self-balancing bipolar outputs. [PDF]

Sci Rep
Heidarbozorg S, Radmanesh H.
europepmc   +1 more source