Results 191 to 200 of about 1,060,375 (218)

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

open access: yesAnnals 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

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu   +21 more
wiley   +1 more source

Breaking Through the Limits: Nanomedicine at the Service of New Drug Combinations to Tackle Pancreatic Cancer. [PDF]

open access: yesWiley Interdiscip Rev Nanomed Nanobiotechnol
Bincoletto V   +5 more
europepmc   +1 more source

Molecular targeting of the meningioma cell signaling circuit reveals drug vulnerabilities including synergy between sulforaphane and focal adhesion kinase inhibition. [PDF]

open access: yesBJC Rep
Schwab MC   +11 more
europepmc   +1 more source

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