Results 131 to 140 of about 13,059 (242)
CLRN1 Variants in Müller Cells Cause Mitochondrial Dysfunction in USH3A Retinal Organoids
We generated retinal organoids from a patient with USH3A and performed single‐cell RNA sequencing. CLRN1 was specifically expressed in Müller cells, where its variants led to mitochondrial dysfunction and photoreceptor degeneration. ABSTRACT Background Usher syndrome 3A (USH3A), caused by mutations in the CLRN1 gene, leads to retinitis pigmentosa and ...
Rui Zhang +19 more
wiley +1 more source
The endoplasmic reticulum displays high polarity with low protein aggregation in human cells. [PDF]
Hu X +6 more
europepmc +1 more source
The behaviour of frog muscle in hypertonic solutions
openaire +3 more sources
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris +4 more
wiley +1 more source
β-Arrestin-2 Regulates Sodium Taste Processing. [PDF]
Grobe CC +5 more
europepmc +1 more source
Abstract Objective We aimed to create practical recommendations to support healthcare teams starting ketogenic diet therapy (KDT) for children with super‐refractory status epilepticus in intensive care settings. Methods A literature review was conducted to extract published data on patient selection, diet prescription, diet initiation, monitoring, fine‐
Robyn Blackford +20 more
wiley +1 more source
Effects of <i>peri</i>-arrest hypertonic/hyperoncotic fluid treatment on clinical outcomes in non-trauma-related resuscitation - A scoping review. [PDF]
Akbas S +5 more
europepmc +1 more source
Renal adaptations of Cerradomys goytaca associated with survival in its natural habitat. Graphical Abstract of the main renal physiological characteristics identified in C. goytaca. This species exhibits an increased kidney mass index, elevated urine osmolality, and enhanced tubular water reabsorption, indicating a higher capacity for water ...
Luzia Agusta Valeriano‐Monici +10 more
wiley +1 more source
Sodium bicarbonate application for the treatment of acute metabolic acidosis: what we know and what we still don't know. [PDF]
von Groote T, Langer T, Brunoni B.
europepmc +1 more source
HYPERTONIC SOLUTIONS IN MASSIVE HAEMORRHAGE
J. BRIMACOMBE, A. BERRRY
openaire +1 more source

