Results 191 to 200 of about 1,318,082 (335)

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu   +5 more
wiley   +1 more source

Towards a complete map of the human long non-coding RNA transcriptome

open access: yesNature reviews genetics, 2018
Barbara Uszczynska-Ratajczak   +4 more
semanticscholar   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas   +18 more
wiley   +1 more source

Cancer Risk in Patients With Systemic Sclerosis: A Nationwide Cohort Study in South Korea 2004 to 2021

open access: yesArthritis Care &Research, EarlyView.
Objective Systemic sclerosis (SSc) is a rare autoimmune disease characterized by tissue fibrosis, vasculopathy, and immune dysregulation. Our objectives were to quantify the overall and site‐specific cancer risks in patients with SSc compared to the general population, examine temporal trends in cancer incidence following SSc diagnosis, and explore ...
Jihyun Na   +4 more
wiley   +1 more source

Development of a Personalized Visualization and Analysis Tool to Improve Clinical Care in Complex Multisystem Diseases With Application to Scleroderma

open access: yesArthritis Care &Research, EarlyView.
Objective In complex diseases, it is challenging to assess a patient's disease state, trajectory, treatment exposures, and risk of multiple outcomes simultaneously, efficiently, and at the point of care. Methods We developed an interactive patient‐level data visualization and analysis tool (VAT) that automates illustration of the trajectory of a ...
Ji Soo Kim   +18 more
wiley   +1 more source

Lung Microphysiological System Validates Novel Cell Therapy for Acute Respiratory Distress Syndrome

open access: yesAdvanced Biology, EarlyView.
This study aims to evaluate the efficacy of primed mesenchymal stem cells (pMSCs) as an alternative treatment for Acute Respiratory Distress Syndrome (ARDS), based on a novel lung microphysiological system (MPS) to test the efficacy of pMSCs over the standard treatment, Dexamethasone.
Bokyong Kim   +11 more
wiley   +1 more source

Engineering the Link: From Genome Interaction Maps to Functional Insight

open access: yesAdvanced Biology, EarlyView.
Advances in chromosome conformation capture have revealed the genome's 3D organization, yet its causal impact on gene regulation remains elusive. This review highlights emerging genome‐engineering tools ‐ zinc fingers, TALEs, and CRISPR‐Cas9 ‐ that enable targeted manipulation of chromatin loops to dissect structure–function relationships. It discusses
Frido Petersen   +5 more
wiley   +1 more source

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