Results 131 to 140 of about 13,059 (242)

CLRN1 Variants in Müller Cells Cause Mitochondrial Dysfunction in USH3A Retinal Organoids

open access: yesCNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
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

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

open access: yesEpilepsia Open, Volume 11, Issue 4, Page 1184-1199, August 2026.
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]

open access: yesHypertension
Grobe CC   +5 more
europepmc   +1 more source

Ketogenic diet therapy for children with super‐refractory status epilepticus in intensive care: International clinical practice recommendations

open access: yesEpilepsia Open, Volume 11, Issue 4, Page 1354-1369, August 2026.
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

The Renal Function of the Wild Rodent Cerradomys goytaca Reveals Adaptations in the Mechanisms of Urinary Concentration and Solute Excretion

open access: yesJournal of Experimental Zoology Part A: Ecological and Integrative Physiology, Volume 345, Issue 7, Page 772-784, August 2026.
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

HYPERTONIC SOLUTIONS IN MASSIVE HAEMORRHAGE

open access: yesBritish Journal of Anaesthesia, 1993
J. BRIMACOMBE, A. BERRRY
openaire   +1 more source

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