Results 231 to 240 of about 3,019,565 (364)

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel   +2 more
wiley   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue   +16 more
wiley   +1 more source

A Case Report: Post-Mortem Pathological Observations of a Fresh Dairy Cow with Type 3 Abomasal Ulcer After Sudden Death. [PDF]

open access: yesAnimals (Basel)
Šertvytytė G   +9 more
europepmc   +1 more source

Metabolic alterations in human pulmonary artery smooth muscle cells treated with PDGF‐BB

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Metabolic abnormalities are considered to play a key regulatory role in vascular remodeling of pulmonary arterial hypertension. We analyzed the metabolome in the culture supernatants of human pulmonary artery smooth muscle cells (PASMC) during the malignant proliferation phenotype transition via a targeted metabolomics method. Significant and extensive
Meng‐Jie Zhang   +9 more
wiley   +1 more source

Scalable Hyperpolarized MRI Enabled by Ace‐SABRE of [1‐13C]Pyruvate

open access: yesAngewandte Chemie, EarlyView.
Ace‐SABRE overcomes previous biocompatibility challenges associated with the Signal Amplification By Reversible Exchange (SABRE) hyperpolarization technique. The employed acetone–water mixtures greatly simplify separation of the hyperpolarized compound (e.g., pyruvate) from solvents and catalysts delivering a biocompatible injectable. Ace‐SABRE retains
Stephen J. McBride   +21 more
wiley   +2 more sources

Identification of ferroptosis‐related genes involved in chronic obstructive pulmonary disease based on bioinformatics analysis

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The design of the entire paper. Green part represents the bioinformatics analysis approach. Yellow part represents the ideas of animal experiment. Abstract Background Chronic obstructive pulmonary disease (COPD) is a type of chronic respiratory disease.
Xuejing Luan   +5 more
wiley   +1 more source

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