Results 111 to 120 of about 2,755 (211)

Phenotypic variability in cystinosis: Lessons from an atypical case

Nefrología (English Edition)
Cystinosis is a rare monogenic autosomal recessive disorder caused by pathogenic variants in the CTNS gene, encoding cystinosin. Loss-of-function of cystinosin leads to intralysosomal cystine accumulation, resulting in cellular dysfunction and ...
Diego Toso, Monica Furlano, Adria Tinoco, Tania Sensat Saltor, Elisabet Ars, Roser Torra   +5 more
doaj   +1 more source

YLubell/SEA-CTN: surveillance-poct

, 2018
Accounting for aetiology: can regional surveillance data alongside host biomarker-guided antibiotic therapy improve treatment of febrile illness in remote settings? Authors Chandna A1,2, White LJ1,3, Pongvongsa T4, Mayxay M3,4,5, Newton PN3,4, Day NPJ1,3, Lubell Y1,3* Mahidol-Oxford Tropical Medicine Research Unit (MORU), Bangkok, Thailand ...
openaire   +2 more sources

KASP^TM SNP genotyping assay of BTA19_24970466 locus of Polish Red CTNS gene showing the data for single KASP^TM assays on a single cluster plot.

, 2017
KASPTM SNP genotyping assay of BTA19_24970466 locus of Polish Red CTNS gene showing the data for single KASPTM assays on a single cluster plot.
Paweł Błaszczyk (3110316), Leyland Fraser (3110304), Przemysław Sobiech (3110313), Haja N. Kadarmideen (419115), Mariusz Pierzchała (3110292), Chandra Shekhar Pareek (3110277), Urszula Czarnik (3110289), Yaping Feng (427666), Piotr Dziuba (3110283), Dibyendu Kumar (3110295)   +9 more
core   +1 more source

RAB27A et CTNS (de la pathologie à la physiologie pigmentaire)

, 2007
Le rôle principal des mélanocytes est de synthétiser de la mélanine dans les mélanosomes puis de les transférer aux kératinocytes pour les protéger des effets mutagènes des ultraviolets.
BALLOTTI, Robert, CHIAVERINI, Christine
core  

Inducible nitric oxide synthase inhibitor 1400W increases Na + ,K + - ATPase levels and activity and ameliorates mitochondrial dysfunction in Ctns null kidney proximal tubular epithelial cells

, 2018
Nitric oxide (NO) has been shown to play an important role in renal physiology and pathophysiology partly through its influence on various transport systems in the kidney proximal tubule.
Newsholme, Philip, Sumayao, Rodolfo E., Jr., McMorrow, Tara   +2 more
core  

Interview with Serguei Grib By Philip Clayton for The Center for Theology and the Natural Sciences

Zagadnienia Filozoficzne w Nauce, 2014
Interview with Serguei Grib By Philip Clayton for The Center for Theology and the Natural Sciences. Edited version for spring workshops (CTNS Program on Science and Spiritual Quest, Spring 1997, Workshop Physics Interviews).
Philip Clayton, Sergey A. Grib
doaj  

A zebrafish luminescent biosensor for kidney tubulopathy, metal toxicity and drug screening. [PDF]

Dis Model Mech
Lai H, Goldade M, Keller SA, Worms I, Luciani A, Neuhauss SCF, Slaveykova VI, Devuyst O, Chen Z.   +8 more
europepmc   +1 more source

Hematopoietic Stem-Cell Gene Therapy for Cystinosis. [PDF]

N Engl J Med
Barshop BA, Ball ED, Benador N, Trauner D, Phillips S, Dohil R, Afshari NA, Roy S, Campo Fernandes B, Kohn D, Shayan K, Everett JK, Bushman FD, Midgley J, Liang H, Sawyers A, Gangoiti JA, Panchal M, Ahmed I, Cherqui S.   +19 more
europepmc   +1 more source

Heart-Type Fatty Acid-Binding Protein (H-FABP) as a Candidate Adjunctive Biomarker for Immune Checkpoint Inhibitor-Related Cardiotoxicity: Linking Early Immune-Metabolic Myocardial Injury with Translational Cardio-Oncology. [PDF]

Int J Mol Sci
Quagliariello V, Berretta M, Maurea F, Canale ML, Paccone A, Bisceglia I, Tedeschi A, Scherillo M, Santagata J, Oliva S, Cadeddu Dessalvi C, Forte P, D'Ambrosio C, Di Matola T, Gabrielli D, Maurea N.   +15 more
europepmc   +1 more source

Cystinosis and Cellular Energy Failure: Mitochondria at the Crossroads. [PDF]

Int J Mol Sci
Bellomo F, De Rasmo D.
europepmc   +1 more source