Dual-energy CT for proton therapy: Impact of advanced slice-wise patient-thickness estimation methods for improved stopping-power prediction. [PDF]
Schwengfelder J +3 more
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Aptasensor-based point-of-care detection of cardiac troponin biomarkers for diagnosis of acute myocardial infarction. [PDF]
Vairaperumal T, Liu PY.
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Spatiotemporal cancer control <i>via</i> alternating magnetic field -activated nanoantennae: coupling heat, electron transport, and immune reprogramming. [PDF]
Moorthy T, Hu SH.
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Impact of Early Versus Late Diagnosis on Disease Progression in Cystinosis. [PDF]
Benfield MR.
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Advances in Pharmacological Treatments for Cystinosis: Cysteamine and Its Alternatives. [PDF]
Carneiro A, Jones DH.
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CTNS mutations in patients with cystinosis [PDF]
Cystinosis is an autosomal recessive lysosomal storage disease caused by mutations in the gene CTNS. The CTNS gene product, cystinosin, has 367 amino acids and seven transmembrane domains and is thought to transport cystine out of lysosomes. The most common form of cystinosis, the nephropathic or infantile type, is characterized by renal failure at 10 ...
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Mutations of CTNS Causing Intermediate Cystinosis
Molecular Genetics and Metabolism, 1999Six patients with the intermediate form of cystinosis are described. Two have new mutations not previously described. The disease occurs due either to the combination of one mild mutation and one which is known to cause nephropathic cystinosis or to homozygosity for a predicted mild mutation.
J, Thoene +9 more
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Modulation of CTNS gene expression by intracellular thiols
Free Radical Biology and Medicine, 2010The cysteine/cystine (Cys/CySS) couple represents one of the major cell thiol/disulfide systems and is involved in the regulation of several metabolic pathways and the cell redox state. Nephropathic cystinosis (NC) is an autosomal recessive disease characterized by renal cellular dysfunction due to mutations in the CTNS gene, which encodes cystinosin ...
Francesco, Bellomo +6 more
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Tic, Triggering, and Tearing: From CTN to SUNHA
Headache: The Journal of Head and Face Pain, 2017Premise Classical trigeminal neuralgia (CTN) and the short‐lasting unilateral neuralgiform headache attacks (SUNHA) are clinically similar. Problem The SUNHAs include short‐lasting unilateral neuralgiform headache attacks with ...
R, Benoliel +3 more
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