Results 161 to 170 of about 1,861,746 (338)

Biophysical characterization and ion transport with cell‐based and proteoliposome reconstitution assays of invertebrate K+‐Cl− cotransporters

open access: yesFEBS Open Bio, EarlyView.
The K+‐Cl− cotransporters (KCCs) facilitate the symport of ions across the plasma membrane. They participate in physiological processes including neuronal regulation. Here, we characterized KCCs from Drosophila and Hydra vulgaris. Comparative analyses of transporters provide insights into the mechanism of KCC ion transport, regulation, and evolution ...
Satoshi Fudo   +4 more
wiley   +1 more source

Genetic diversity and population structure of the Taigan dog breed

open access: yesFEBS Open Bio, EarlyView.
The Taigan is a rare sighthound from the mountains of Kyrgyzstan. We used DNA markers to study its genetic diversity and compare it with other sighthound breeds. Our findings show that the Taigan shares close genetic ties with the Kazakh Tazy, suggesting a common ancestry shaped by nomadic traditions and regional adaptation.
Kira Bespalova   +10 more
wiley   +1 more source

Polydatin ameliorates ovalbumin‐induced asthma in a rat model through NCOA4‐mediated ferroautophagy and ferroptosis pathway

open access: yesFEBS Open Bio, EarlyView.
In this research, a rat model of asthma was created using OVA, and polydatin served as an intervention. By inhibiting ferroautophagy mediated by NCOA4 and averting ferroptosis, polydatin has been demonstrated to reduce asthma. This work presents new ideas for investigating the mechanism of polydatin's ability to alleviate asthma, in addition to ...
Wei Li   +5 more
wiley   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao   +34 more
wiley   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra   +17 more
wiley   +1 more source

NMDAR‐Antibody Encephalitis Diagnosed With Primary Central Nervous System Lymphoma: A Case Series

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT N‐methyl‐D‐aspartate receptor‐antibody encephalitis (NMDAR encephalitis) is one of the most common forms of autoimmune encephalitis, with a paraneoplastic relationship described in approximately 38%. Primary central nervous system lymphoma (PCNSL) is a rare hematologic malignancy that is not often considered as the underlying neoplasm in this ...
Soo Hyun Ahn   +4 more
wiley   +1 more source

Plasma microRNA Signature as Predictive Marker of Clinical Response to Therapy During Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite the availability of effective therapies for Multiple Sclerosis (MS), the unpredictable nature of disease progression and the variability in individual treatment outcomes call for reliable biomarkers. This pilot study aims to investigate the potential of plasma circulating microRNAs (miRNAs) as predictive biomarkers for ...
Fortunata Carbone   +19 more
wiley   +1 more source

Relevance of Kappa and Lambda Free Light Chains in Autoimmune Astrocytopathy Associated With Anti‐GFAP Antibodies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction The kappa‐free light chain (κ‐FLC) index is known to be highly sensitive and specific for diagnosing multiple sclerosis (MS), while little is understood about lambda (λ)‐FLC. This study assessed the κ‐FLC and λ‐FLC indices in autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy.
Michael Levraut   +11 more
wiley   +1 more source

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach   +11 more
wiley   +1 more source

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