Results 271 to 280 of about 120,091 (334)

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady   +10 more
wiley   +1 more source

Erythropoiesis suppression is associated with anthrax lethal toxin-mediated pathogenic progression. [PDF]

open access: yesPLoS One, 2013
Chang HH   +13 more
europepmc   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson   +1 more
wiley   +1 more source

TARDBP (TDP‐43) Knock‐in Zebrafish Display a Late‐Onset Motor Phenotype and Loss of Large Spinal Cord Motor Neurons

open access: yesAnnals of Neurology, EarlyView.
Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji   +10 more
wiley   +1 more source

Anthrax lethal toxin and the induction of CD4 T cell immunity. [PDF]

open access: yesToxins (Basel), 2012
Ascough S, Ingram RJ, Altmann DM.
europepmc   +1 more source

Three dimensional structure of the anthrax toxin translocon–lethal factor complex by cryo‐electron microscopy

open access: green, 2013
Edward P. Gogol   +8 more
openalex   +2 more sources

A New Era for Using Natural Pigments: The Case of the C50 Carotenoid Called Bacterioruberin

open access: yesBiotechnology and Applied Biochemistry, EarlyView.
ABSTRACT Haloarchaea are extremophilic microorganisms belonging to the Archaea domain that require high salt concentrations to live, thus inhabiting ecosystems like salty ponds, salty marshes, or extremely salty lagoons. They are more abundant and widely distributed worldwide than initially expected.
Micaela Giani   +5 more
wiley   +1 more source

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