Results 221 to 230 of about 1,645,919 (262)

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

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Evolution by gene loss

Nature Reviews Genetics, 2016
The recent increase in genomic data is revealing an unexpected perspective of gene loss as a pervasive source of genetic variation that can cause adaptive phenotypic diversity. This novel perspective of gene loss is raising new fundamental questions. How relevant has gene loss been in the divergence of phyla? How do genes change from being essential to
Ricard Albalat, Cristian Cañestro, Albalat Ricard   +2 more
exaly   +4 more sources

Some of the next articles are maybe not open access.

Related searches:

Wnt gene loss in flatworms

Development Genes and Evolution, 2011
Wnt genes encode secreted glycoproteins that act in cell-cell signalling to regulate a wide array of developmental processes, ranging from cellular differentiation to axial patterning. Discovery that canonical Wnt/β-catenin signalling is responsible for regulating head/tail specification in planarian regeneration has recently highlighted their ...
Nick, Riddiford, Peter D, Olson
openaire   +2 more sources

Reconstructing Gene Gains and Losses with BadiRate

2022
Estimating gene gain and losses is paramount to understand the molecular mechanisms underlying adaptive evolution. Despite the advent of high-throughput sequencing, such analyses have been so far hampered by the poor contiguity of genome assemblies.
Pablo, Librado, Julio, Rozas
openaire   +2 more sources

Genes and syndromic hearing loss

Journal of Communication Disorders, 2002
Syndromes that are associated with hearing loss include Waardenburg, Stickler (STL), Jervell and Lange-Nielsen, Usher (USH), Alport, mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes, and sensorineural hearing loss (MELAS) and mitochondrial encephalomyopathy, myoclonus epilepsy, ragged-red fibers, and sensorineural hearing loss ...
openaire   +2 more sources

Modifier genes of hereditary hearing loss

Current Opinion in Neurobiology, 2000
Phenotypic variation between individuals with the same disease alleles may be attributable to the genotype at another locus, which is referred to as a modifier gene. Recent functional studies of modifier genes of hearing-loss loci have begun to refine our understanding of hearing processes and will guide the rational design of medical therapies for ...
T, Friedman, J, Battey, B, Kachar, S, Riazuddin, K, Noben-Trauth, A, Griffith, E, Wilcox   +6 more
openaire   +2 more sources

Gene Therapy for Sensorineural Hearing Loss

Ear & Hearing, 2015
Gene therapy is a promising treatment modality that is being explored for several inherited disorders. Multiple human gene therapy clinical trials are currently ongoing, but few are directed at hearing loss. Hearing loss is one of the most prevalent sensory disabilities in the world, and genetics play an important role in the pathophysiology of hearing
Wade W, Chien, Elyssa L, Monzack, Devin S, McDougald, Lisa L, Cunningham   +3 more
openaire   +2 more sources

Loss of heterozygosity of the PTCH gene in ameloblastoma

Human Pathology, 2012
Ameloblastoma is a locally aggressive benign neoplasm derived from odontogenic epithelium, with high recurrence rates. Alterations in the Sonic Hedgehog signaling pathway, including PTCH gene mutations, have been associated with the pathogenesis of some odontogenic tumors.
Lucyana Conceição, Farias, Carolina Cavalieri, Gomes, João Artur Ricieri, Brito, Clarice Ferreira, Galvão, Marina Gonçalves, Diniz, Wagner Henriques, de Castro, Vanessa de Fátima, Bernardes, Luiz Armando, De Marco, Ricardo Santiago, Gomez   +8 more
openaire   +2 more sources

Gene loss and gain in the evolution of the vertebrates

Development, 1994
ABSTRACT Homeobox cluster genes (Hox genes) are highly conserved and can be usefully employed to study phyletic relation ships and the process of evolution itself. A phylogenetic survey of Hox genes shows an increase in gene number in some more recently evolved forms, particularly in verte brates. The gene increase has occurred through a
F H, Ruddle, K L, Bentley, M T, Murtha, N, Risch   +3 more
openaire   +2 more sources