Results 91 to 100 of about 238,790 (206)

Integrating Circle-Seq with transcriptomics reveals genome-wide characterization of extrachromosomal circular DNA for dilated cardiomyopathy

open access: yesBiology Direct
Background Extrachromosomal circular DNAs (eccDNAs) are commonly found in various tumors and play a critical role in promoting oncogenesis. However, little is known about the characteristics and nature of eccDNAs in human heart failure.
Zhenhao Lin   +4 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach   +23 more
wiley   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou   +16 more
wiley   +1 more source

Neurologic Manifestations of Long COVID Affect Adult Females More Severely Than Males

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize differences in neurologic manifestations of postacute sequelae of SARS‐CoV‐2 infection (Neuro‐PASC) between females and males. Methods Cross‐sectional study of the first consecutive 261 posthospitalization Neuro‐PASC (PNP) and 2068 nonhospitalized Neuro‐PASC (NNP) patients evaluated at the Neuro‐COVID clinic between ...
Hannah Kopinsky   +5 more
wiley   +1 more source

First report of chromosomal co-occurrence of blaAFM-3 and blaIMP-45 genes in a multidrug-resistant Pseudomonas aeruginosa clinical isolate

open access: yesJournal of Global Antimicrobial Resistance
Background: Multidrug-resistant (MDR) Pseudomonas aeruginosa, especially carbapenemase-producing strains, poses major clinical challenges due to their widespread dissemination and limited treatment options.
Yu-Xia Zhong   +5 more
doaj   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan   +7 more
wiley   +1 more source

The Price of Precision: A Critical Review of Molecular Diagnostics in Glioma, From Guidelines to Global Disparities

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas have undergone a profound redefinition over the past decade, transitioning from morphology‐based entities to biologically coherent diseases defined by molecular alterations. The 2021 WHO Classification of Tumors of the Central Nervous System and its 2022 update formalize this shift, establishing integrated diagnosis as the global ...
Maria Guarnaccia, Sebastiano Cavallaro
wiley   +1 more source

Sexagesimal scale for mapping human genome Escala sexagesimal para mapear el genoma humano

open access: yesRevista Chilena de Historia Natural, 2001
In a previous work I designed a diagram of the human genome based on a circular ideogram of the haploid set of chromosomes, using a low resolution scale of Megabase units.
RICARDO CRUZ-COKE
doaj  

Inhibition of IGFBP4 in Granulosa Cells Improves Reproductive Performance and Maintains Fertility With Age via YAP Signaling

open access: yesAdvanced Science, EarlyView.
IGFBP4 is upregulated in granulosa cells of aged ovaries across monkeys, mice, and humans. It inhibits YAP signaling, thereby suppressing cell proliferation and contributing to follicular dysfunction. Deletion of Igfbp4 in granulosa cells enhances ovulatory output, improves hormone profiles, and reproductive performance in aged female mice, suggesting ...
Qianhui Hu   +8 more
wiley   +1 more source

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