Results 11 to 20 of about 2,225 (187)

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East [PDF]

Frontiers in Pediatrics, 2019
Background: Nephropathic Cystinosis, the most common cause of renal Fanconi syndrome, is a lysosomal transport disorder with an autosomal recessive inheritance pattern. A large number of mutations in CTNS have been identified as causative to date.
Farkhondeh Behjati, Miriam Schmidts, Anoush Azarfar   +2 more
exaly   +8 more sources

An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins [PDF]

Journal of Cachexia, Sarcopenia and Muscle
Background Cystinosis is a rare multisystem, autosomal recessive disease caused by dysfunction or loss of cystinosin (CTNS), which results in lysosomal cystine accumulation, primarily affecting the kidneys.
Louise Medaer, Roger Mora, Zhuoheng Zhou, Nefele Giarratana, Laura Yedigaryan, Rita La Rovere, Elena Levtchenko, Vincent Mouly, Els Verhoeyen, Sebastiaan Eeltink, Achim Treumann, Tim Vervliet, Maurilio Sampaolesi, Rik Gijsbers   +13 more
doaj   +2 more sources

Cystinosin regulates Na+/H+ exchanger 3 trafficking and function in kidney proximal tubular cells [PDF]

EMBO Reports
Cystinosis is a systemic lysosomal storage disease resulting from mutations in the CTNS gene encoding the lysosomal cystine transporter cystinosin, leading to cystine accumulation in all organs.
Veenita Khare, Jean-Claude Farré, Mouad Ait Kbaich, Céline J Rocca, Cynthia Tang, Xuan Ma, Kavya Biederman, Ioli Mathur, Rafael A Badell-Grau, Anusha Sivakumar, Rola Chen, Sergio D Catz, Stephanie Cherqui   +12 more
doaj   +2 more sources

CTNS molecular genetics profile in a Persian nephropathic cystinosis population

Nefrologia, 2017
Purpose: In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1–17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia.
Farideh Ghazi, Babak Behnam, William Gahl   +2 more
exaly   +7 more sources

Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia [PDF]

BMC Genomic Data
Background Cystinosis is a lysosomal storage disease caused by the accumulation of intralysosomal cystine in different tissues and organs including: brain, cornea, kidneys, liver and, pancreas.
Chayma Sahli, Sameh Mabrouk, Nesrine Jemmeli, Salsabil Nouir, Roua Ltaifa, Taieb Messaoud, Hassen Ben Abdennebi, Salima Ferchichi, Mohamed Ghorbel, Sandrine Laradi, Latifa Chkioua   +10 more
doaj   +2 more sources

Novel mechanism for tubular injury in nephropathic cystinosis [PDF]

eLife
Understanding the unique susceptibility of the human kidney to pH dysfunction and injury in cystinosis is paramount to developing new therapies to preserve renal function.
Swastika Sur, Maggie Kerwin, Silvia Pineda, Poonam Sansanwal, Tara K Sigdel, Marina Sirota, Minnie M Sarwal   +6 more
doaj   +2 more sources

Leptin signalling altered in infantile nephropathic cystinosis‐related bone disorder [PDF]

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   +2 more sources

Infantile Nephropathic Cystinosis: A Novel CTNS Mutation

Eurasian Journal of Medicine, 2019
Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene.
Hakan Doneray, Mohammed Aldahmesh, Gulsah Yilmaz, Emine Cinici, Zerrin Orbak   +4 more
doaj   +4 more sources

Intermediate type cystinosis with a novel CTNS variant in a child: a case report

Journal of Rare Diseases
Cystinosis is a rare lysosomal storage disorder caused by a variant in the CTNS gene that leads to the accumulation of cystine in the body’s tissues.
Mugahid Elamin
exaly   +2 more sources

Ultrasound in cervical traumatic neuromas after neck dissection in thyroid carcinoma patients: descriptive analysis and diagnostic accuracy [PDF]

Archives of Endocrinology and Metabolism, 2023
Objective: Cervical traumatic neuromas (CTNs) may appear after lateral neck dissection for metastatic thyroid carcinoma. If they are misdiagnosed as metastatic lymph nodes (LNs) in follow-up neck ultrasound (US), unnecessary and uncomfortable fine-needle
Vinicius Neves Marcos, Debora Lucia Seguro Danilovic, Fernando Linhares Pereira, Miriam Harumi Tsunemi, Marco Aurelio Vamondes Kulcsar, Ana Oliveira Hoff, Regina Barros Domingues, Maria Cristina Chammas, Ricardo Miguel Costa de Freitas   +8 more
doaj   +1 more source