Results 31 to 40 of about 6,138 (207)

Pulmonary dysfunction in children with Cystinosis: single center study, original article

Egyptian Pediatric Association Gazette, 2022
Background Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin.
Dina H. Hamed, Radwa Mohamed Abdel Halim, Mona Mohsen El Attar, Neveen A. Soliman, Hanan Mohsen Osman   +4 more
doaj   +1 more source

Urine-Derived Kidney Progenitor Cells in Cystinosis

Cells, 2022
Nephropathic cystinosis is an inherited lysosomal storage disorder caused by pathogenic variants in the cystinosin (CTNS) gene and is characterized by the excessive shedding of proximal tubular epithelial cells (PTECs) and podocytes into urine ...
Koenraad Veys, Sante Princiero Berlingerio, Dries David, Tjessa Bondue, Katharina Held, Ahmed Reda, Martijn van den Broek, Koen Theunis, Mirian Janssen, Elisabeth Cornelissen, Joris Vriens, Francesca Diomedi-Camassei, Rik Gijsbers, Lambertus van den Heuvel, Fanny O. Arcolino, Elena Levtchenko   +15 more
doaj   +1 more source

CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich's Ataxia. [PDF]

, 2020
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion of GAA repeats in intron 1 of the frataxin (FXN) gene, leading to significant decreased expression of frataxin, a mitochondrial iron-binding protein.
Cherqui, Stephanie, Haquang, Joseph H, Luebeck, Jens, Mali, Prashant, Rainaldi, Joseph N, Rocca, Celine J, Sharma, Jay, Shi, Yanmeng   +7 more
core  

Low density lipoprotein oxidation by ferritin at lysosomal pH [PDF]

, 2018
Oxidation of low density lipoprotein (LDL) has been proposed to be involved in the pathogenesis of atherosclerosis. We have previously shown that LDL can be oxidised by iron in lysosomes.
Leake, David S., Ojo, Oluwatosin O.
core   +1 more source

Non-invasive intradermal imaging of cystine crystals in cystinosis.

PLoS ONE, 2021
ImportanceDevelopment of noninvasive methodology to reproducibly measure tissue cystine crystal load to assess disease status and guide clinical care in cystinosis, an inherited lysosomal storage disorder characterized by widespread cystine crystal ...
Marya Bengali, Spencer Goodman, Xiaoying Sun, Magdalene A Dohil, Ranjan Dohil, Robert Newbury, Tatiana Lobry, Laura Hernandez, Corinne Antignac, Sonia Jain, Stephanie Cherqui   +10 more
doaj   +1 more source

Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation [PDF]

, 2014
Restoration of BECN1/Beclin 1-dependent autophagy and depletion of SQSTM1/p62 by genetic manipulation or autophagy-stimulatory proteostasis regulators, such as cystamine, have positive effects on mouse models of human cystic fibrosis (CF). These measures
Amin R, Andrea Venerando, Angela Sepe, Anil Mehta, Anna Bossi, Anna Zolin, Antonella Tosco, Boyle MP BS, Carlo A Leone, Daniela De Stefano, Donaldson S., Fabiola De Gregorio, Fischer H, Gianni Bona, Gibson LE, Giuseppe De Rosa, Guido Kroemer, Illek B, Jayaraman S, Kerem B, Kerem Eithan HMO, Laura Salvadori, Legssyer R, Lorenzo A Pinna, Luigi Maiuri, Lukacs G, Maria C Maiuri, Massimo Pettoello-Mantovani, Masvidal L, Pharmaceuticals Cylene, Pharmaceuticals Cylene, Rosa Grassia, Speranza Esposito, Standardization of Spirometry, Stefano Guido, Stern M, Valeria R Villella, Valeria Raia, van Doorninck JH, Villella VR   +39 more
core   +4 more sources

Grip Strength in Adults and Children with Cystinosis

Kidney International Reports, 2021
Introduction: Chronic kidney disease (CKD) is associated with impaired muscle strength. Patients with cystinosis have an increased risk for impaired muscle strength because of early development of CKD and cystinosis-induced myopathy.
Helina Iyob-Tessema, Chia-Shi Wang, Sabina Kennedy, Loretta Reyes, Stella Shin, Larry A. Greenbaum, Julien Hogan   +6 more
doaj   +1 more source

Macrophage polarization impacts tunneling nanotube formation and intercellular organelle trafficking. [PDF]

, 2019
Tunneling nanotubes (TNTs) are cellular extensions enabling cytosol-to-cytosol intercellular interaction between numerous cell types including macrophages.
Cherqui, Stephanie, Goodman, Spencer, Khan, Meisha, Naphade, Swati, Sharma, Jay   +4 more
core   +1 more source

Novel conditionally immortalized human proximal tubule cell line expressing functional influx and efflux transporters [PDF]

, 2010
Reabsorption of filtered solutes from the glomerular filtrate and excretion of waste products and xenobiotics are the main functions of the renal proximal tubular (PT) epithelium.
Martijn J. Wilmer, Moin A. Saleem, Rosalinde Masereeuw, Lan Ni, Thea J. van der Velden, Frans G. Russel, Peter W. Mathieson, Leo A. Monnens, Lambertus P. van den Heuvel, Elena N. Levtchenko, M Bens, H Birn, AG Bodnar, CD Brown, CJ Detrisac, CJ Detrisac, A Dorrenhaus, AA El-Sheikh, IC Forster, WA Gahl, M Gekle, M Gekle, KM Madsen, K Malmstrom, S Nielsen, J O'Brien, MJ O'Hare, LC Racusen, LC Racusen, SJ Reshkin, FG Russel, MJ Ryan, MA Saleem, SC Satchell, AC Stamps, S Terryn, RA Aubel van, FM Water van de, C Weiland, MJG Wilmer, YS Yang, XY Zhai   +41 more
core   +2 more sources

From Offline to Inline Without Pain: A Practical Framework for Translating Offline MR Reconstructions to Inline Deployment Using the Gadgetron Platform

Magnetic Resonance in Medicine, Volume 96, Issue 1, Page 448-459, July 2026.
ABSTRACT Purpose To develop and validate a practical, open‐source framework to overcome common issues in inline deployment of established offline MR reconstruction, including (1) scan disruption from lengthy reconstructions, (2) limited support for multi‐scan input reconstructions, (3) needs to adapt scripts for different raw‐data formats, and (4 ...
Zihan Ning, Yannick Brackenier, Sarah McElroy, Sara Neves Silva, Lucilio Cordero‐Grande, Samuel Rot, Liane S. Canas, Rebecca E. Thornley, David Leitão, Davide Poccecai, Andrew Cantell, Rene Kerosi, Anthony N. Price, Jon Cleary, Donald J. Tournier, Jana Hutter, .Philippa Bridgen, Pierluigi Di Cio, Michela Cleri, Inka Granlund, Lucy Billimoria, Yasmin Blunck, Shaihan Malik, Marc Modat, Sebastien Ourselin, Claire J. Steves, Joseph V. Hajnal   +26 more
wiley   +1 more source