Results 51 to 60 of about 2,523,567 (168)

Leptin signalling altered in infantile nephropathic cystinosis‐related bone disorder

Journal of Cachexia, Sarcopenia and Muscle
Background The CTNS gene mutation causes infantile nephropathic cystinosis (INC). Patients with INC develop Fanconi syndrome and chronic kidney disease (CKD) with significant bone deformations.
Wai W. Cheung, Ping Zhou, Ronghao Zheng, Arieh Gertler, Eduardo A. Oliveira, Robert H. Mak   +5 more
doaj   +1 more source

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk, Bart M. F. Penninx, Annet M. Bosch, Mirjam Langeveld, Gajja S. Salomons, Carla E. M. Hollak, Essential Nutritional Therapy Products for IMDs Consensus Group, Dorothea Möslinger, Saskia Wortmann, David Cassiman, Pavel Ješina, Jiri Zeman, Allan M. Lund, François Feillet, Nazi Tabatadze, Sarah C. Grünert, Anke Schumann, Ute Spiekerkoetter, Ulrike Mütze, Thomas Opladen, Anastasia Skouma, Ina Knerr, Serena Gasperini, Vincenza Gragnaniello, Mariarosa (Marina) Anna Beatrice Melone, Francesca Nardecchia, Alessandro La Rosa, Birutė Tumienė, Margreet Wagenmakers, Terry Derks, Camilla Tøndel, Beata Kieć‐Wilk, Urh Groselj, Amaya Bélanger‐Quintana, Javier De las Heras, Mireia del Toro Riera, Eva Venegas Moreno, Matthias Gautschi, Johannes Häberle, Elaine Murphy   +39 more
wiley   +1 more source

Update on Viral Gene Therapy Clinical Trials for Retinal Diseases [PDF]

, 2022
In 2001, the first large animal was successfully treated with a gene therapy that restored its vision. Lancelot, the Briard dog that was treated, suffered from a human childhood blindness called Leber's congenital amaurosis type 2.
Cheng, Shun-Yun, Punzo, Claudio
core   +1 more source

A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population [PDF]

Journal of Medical Genetics, 2001
Editor—Nephropathic cystinosis (MIM 219800) is a rare autosomal recessively inherited lysosomal storage disorder with a newborn incidence of about 1 in 100 000-200 000 in the general population (OMIM). Cystine accumulates in lysosomes because of dysfunctional cystinosin mediated transport of cystine out of lysosomes. The accumulation of cystine results
C A, Rupar, D, Matsell, S, Surry, V, Siu
openaire   +2 more sources

Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis [PDF]

, 2010
Recent genetic studies have led to identification of numerous loci that are associated with susceptibility to autoimmune diseases. The strategy of using information from these studies has facilitated the identification of novel juvenile idiopathic ...
S Eyre, J Worthington, X Ke, P Martin, W Thomson, A Hinks, E Flynn, J Packham, A Barton, Martin, P., Barton, A., Gardner-Medwin, J. [CAPS and BSPAR study groups], UKRAG Consortium, Worthington, J., Thomson, W., Flynn, E., Packham, J., Hinks, A., British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group, Eyre, S., Ke, X., Childhood Arthritis Prospective Study (CAPS)   +21 more
core   +1 more source

Chaperone-Mediated Autophagy Upregulation Rescues Megalin Expression and Localization in Cystinotic Proximal Tubule Cells

Frontiers in Endocrinology, 2019
Cystinosis is a lysosomal storage disorder caused by defects in CTNS, the gene that encodes the lysosomal cystine transporter cystinosin. Patients with nephropathic cystinosis are characterized by endocrine defects, defective proximal tubule cell (PTC ...
Jinzhong Zhang, Jing He, Jennifer L. Johnson, Farhana Rahman, Evripidis Gavathiotis, Ana Maria Cuervo, Sergio D. Catz   +6 more
doaj   +1 more source

Cancer and Hypertension: Shared Mechanisms, Treatment Interactions, and Clinical Management

Cancer Medicine, Volume 15, Issue 10, October 2026.
ABSTRACT Cancer and hypertension (HTN) frequently coexist, and their relationship is increasingly recognized as a clinically relevant intersection between oncology and cardiovascular medicine. However, the extent to which this association reflects shared risk factors, common biological mechanisms, or treatment‐related effects remains incompletely ...
Peizhi Jia, Daxin Chen, Jingting Wang, Yupei Guo, Jinhong Liu, Jiumao Lin   +5 more
wiley   +1 more source

Glycoproteomic Signatures of IgG Subclass N‐Glycosylation Reveal Molecular Endotypes in Idiopathic Inflammatory Myopathies

MedComm, Volume 7, Issue 10, October 2026.
• EThcD‐sceHCD‐MS/MS and updated PANDA software decode IgG N‐glycosylation in IIMs. • Unsupervised clustering reveals three novel glyco‐endotypes matching clinical phenotypes. • A seven‐glycopeptide model enables robust endotype prediction beyond conventional subtypes.
Tong Wu, Yanhong Li, Yingying Ling, Yinlan Wu, Jing Zhao, Lu Cheng, Chunyu Tan, Yi Zhang, Yong Zhang, Yi Liu   +9 more
wiley   +1 more source

Response inhibition and error-monitoring in cystinosis (CTNS gene mutations): Behavioral and electrophysiological evidence of a diverse set of difficulties

, 2023
ABSTRACT Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain. Its impact on neural function appears mild relative to its effects on other organs, but therapeutic advances have led to substantially increased life expectancy ...
Ana A. Francisco, John J. Foxe, Alaina Berruti, Douwe J. Horsthuis, Sophie Molholm   +4 more
openaire   +2 more sources

Nasal Epithelial Immune Signatures Are Associated With Age‐Dependent Asthma Trajectories in Early Life

Allergy, Volume 81, Issue 10, Page 3533-3553, October 2026.
Nasal epithelial transcriptomics identified three cytokine‐associated epithelial immune programs linked to childhood asthma phenotypes. Age‐associated epithelial polarization shifted from IFN/type‐17‐associated toward type‐2‐associated programs after 3 years of age.
Constanze A. Jakwerth, Sabina Illi, Helen Charles, Madlen Oelsner, Amr A. Gabr, Ulrich M. Zissler, Anna Erb, Martin Feuerherd, Felix Drost, Maren Büttner, Benjamin Schubert, Nicole Maison, Jimmy Omony, Markus Weckmann, Ruth Grychtol, Anna‐Maria Dittrich, Svenja Foth, Chrysanthi Skevaki, Tobias Trojan, Silke van Koningsbruggen‐Rietschel, Gesine Hansen, Thomas Bahmer, Klaus F. Rabe, Folke Brinkmann, Matthias Volkmar Kopp, Ulrike Protzer, Adam M. Chaker, Bianca Schaub, Erika von Mutius, Carsten B. Schmidt‐Weber, the ALLIANCE Study Group as part of the German Center for Lung Research (DZL), Mira Bürk, Sybille Contento, Markus Ege, Kristina Gottschau, Silvia Gschwendtner, Alexander Hose, Lena Lagally, Michael Schloter, Lena Ullemeyer, Esther Zeitlmann, Mustafa Abdo, Heike Biller, Karoline I. Gaede, Clara Haug, Nikolas Jacobs, Anne‐Marie Kirsten, Inke R. König, Lea Kronziel, Gyde Nissen, Frauke Pedersen, Loana Pennerd, Isabell Ricklefs, Vera Veith, Henrik Watz, Marie Bickes, Mifflin‐Rae Calvero, David S. DeLuca, Svenja Gaedcke, Anika Habener, Christine Happle, Adan Chari Jirmo, Bin Liu, Lennart Riemann, Nicolaus Schwerk, Inga Jerrentrup, Harald Renz, Stefanie Weber, Miguel A. Alejandre Alcazar, Samira Blau, Ernst Rietschel, Jan‐Christoph Thomassen   +71 more
wiley   +1 more source