Results 111 to 120 of about 3,017 (208)

Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis

, 2014
Nephropathic cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene, encoding for cystinosin, a carrier protein transporting cystine out of lysosomes.
Levtchenko, Elena, Soliman, Neveen A., van den Heuvel, Bert, Gamal, Mohamed, Bongaers, Inge, Abdel Hamid, Rehab H., Ibrahim, Mohamed, Marie, Sandrine   +7 more
core   +1 more source

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

Ethanol ablation of cystic thyroid nodules: institutional experience with one year follow-up. [PDF]

Radiol Med
Scappaticcio L, Di Martino N, Ferrazzano P, Longo M, Marinelli L, Docimo G, Maiorino MI, Bellastella G, Cappabianca S, Esposito K.   +9 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

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  

HACCP-compatible ear acupuncture using biodegradable starch-based needles mitigates transport-induced physiological and oxidative stress in calves. [PDF]

Vet World
Sato S, Kanno C, Hoshi Y, Yamato O, Ijiri M, Miura H, Ono HK, Takahashi F, Kawaguchi H.   +8 more
europepmc   +1 more source

A Refined Method for Micro-Scale Blood Cystine Measurement in Preclinical Cystinosis Models. [PDF]

Int J Mol Sci
De Leo E, Cairoli S, Rega LR, Colucci M, Taranta A, Goffredo BM, Emma F, Bellomo F.   +7 more
europepmc   +1 more source

Genetic Screening of Patients With Inherited Fanconi Syndrome. [PDF]

Kidney Int Rep
Inoki Y, Sakakibara N, Yamamoto A, Kimura Y, Aoyama S, Kondo A, Hanafusa H, Horinouchi T, Yamamura T, Nagano C, Ishimori S, Asato S, Fukuda A, Hashimoto S, Murase T, Nagatani K, Nakaya I, Okamoto T, Takayanagi S, Tanaka H, Tsugawa K, Tsukamoto T, Yamada T, Yamamoto M, Nozu K.   +24 more
europepmc   +1 more source