Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
The inflated significance of neutral genetic diversity in conservation genetics. [PDF]
Proc Natl Acad Sci U S A, 2021 Teixeira JC, Huber CD.
europepmc +1 more source
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 +72 more
wiley +1 more source
Conservation genetics as a management tool: The five best-supported paradigms to assist the management of threatened species. [PDF]
Proc Natl Acad Sci U S A, 2022 Willi Y +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 +16 more
wiley +1 more source
β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations
Advanced Biology, Volume 9, Issue 3, March 2025.Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio +11 more
wiley +1 more source
Evolution and conservation genetics of an insular hemiparasitic plant lineage at the limit of survival: the case of Thesium sect. Kunkeliella in the Canary Islands. [PDF]
Am J Bot, 2022 Rodríguez-Rodríguez P +7 more
europepmc +1 more source
Innovating Aircraft Repair Processes: The Role of Digitalization in Sustainability
Advanced Engineering Materials, EarlyView.This research explores how digitalization—by storing detailed non‐destructive testing data in structured DICONDE databases and creating a standard data model of the component—innovates aviation maintenance and repair processes. Coupled with a developed state‐based simulation model, it enables data‐driven, sustainable repair strategies that reduce waste,
Johanna Aigner +3 more
wiley +1 more source
Phylogenetic relationship, biogeography, and conservation genetics of endangered Fraxinus chiisanensis (Oleaceae), endemic to South Korea. [PDF]
Plant Divers, 2022 Kim C, Kim DK, Sun H, Kim JH.
europepmc +1 more source
Advanced Engineering Materials, EarlyView.Thermomechanical fatigue tests of laser beam powder bed fusion (PBF‐LB) Inconel 718 show that the additively manufactured material reaches almost the lifetimes of conventionally‐rolled material under no‐dwell conditions. Introducing dwell times at the maximum temperature markedly reduces the lifetimes due to pronounced grain boundary sliding associated
Stefan Guth +6 more
wiley +1 more source