Results 11 to 20 of about 1,567 (165)

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   +3 more sources

Analysis of CTNS gene transcripts in nephropathic cystinosis. [PDF]

Pediatr Nephrol, 2010
Nephropathic cystinosis (NC) is an autosomal recessive disorder caused by mutations of the CTNS gene that encodes for a cystine transmembrane transporter. Several mutations have been described in the coding and promoter regions of the CTNS gene in affected individuals.
Taranta A, Wilmer MJ, van den Heuvel LP, Bencivenga P, Bellomo F, Levtchenko EN, Emma F.   +6 more
europepmc   +9 more sources

A deletion in the Ctns gene causes renal tubular dysfunction and cystine accumulation in LEA/Tohm rats. [PDF]

Mamm Genome, 2019
The Long-Evans Agouti (LEA/Tohm) rat has recently been established as a new rat model of type 2 diabetes. The onset of diabetes mellitus was observed only in male LEA/Tohm rats; however, urinary glucose appeared before the onset of diabetes. To clarify the genetic basis of urinary glucose, we performed genetic linkage analysis using (BN × LEA) F2 ...
Shimizu Y, Yanobu-Takanashi R, Nakano K, Hamase K, Shimizu T, Okamura T.   +5 more
europepmc   +5 more sources

Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis. [PDF]

JIMD Rep, 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. Its deficiency leads to cystine accumulation and cell damage in multiple organs, especially in the kidney.
Soliman NA, Elmonem MA, van den Heuvel L, Abdel Hamid RH, Gamal M, Bongaers I, Marie S, Levtchenko E.   +7 more
europepmc   +8 more sources

Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene. [PDF]

Meta Gene, 2015
Nephropathic cystinosis (NC) is an autosomal recessive disorder characterized by defective transport of cystine across the lysosomal membrane and resulting in renal, ophthalmic, and other organ abnormalities. Mutations in the CTNS gene cause a deficiency of the transport protein, cystinosin. This study was performed to investigate mutations of the CTNS
Chkioua L, Khedhiri S, Grissa O, Aloui C, Turkia HB, Ferchichi S, Miled A, Froissart R, Acquaviva C, Laradi S.   +9 more
europepmc   +4 more sources

WCN25-2709 MUTATIONAL SPECTRUM OF CTNS GENE IN INDIAN CHILDREN WITH NEPHROPATHIC CYSTINOSIS [PDF]

Kidney International Reports
Vishnu Dev, Girish Bhatt, Sriram Krishnamurthy, Shikha Malik, Amber Kumar, Mahesh Maheshwari, Bhavna Dhingra, Tanya Sharma, Abhijit Pakhare, Ashok Kumar, Bobbity Deepthi, Sudarsan Krishnasamy   +11 more
doaj   +3 more sources

CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis. [PDF]

J Pediatr Genet, 2013
Classic nephropathic cystinosis (CNC) is an autosomal recessive and infrequent inborn metabolic disease that should be suspected in all children who show failure to thrive and renal Fanconi syndrome (RFS). Slit-lamp examination reveals pathognomonic corneal deposits of cystine crystals in virtually all affected individuals after 12-16 mo of age.
Alcántara-Ortigoza MA, Martínez-Bernal AB, Belmont-Martínez L, Vela-Amieva M, González-del Angel A.   +4 more
europepmc   +4 more sources

Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations. [PDF]

Hum Genome Var, 2017
AbstractNephropathic cystinosis is an inherited lysosomal transport disorder caused by mutations in the CTNS gene that encodes for a lysosomal membrane transporter, cystinosin. Dysfunction in this protein leads to cystine accumulation in the cells of different organs.
Sadeghipour F, Basiratnia M, Derakhshan A, Fardaei M.   +3 more
europepmc   +5 more sources

Event-related potential (ERP) evidence for early visual processing differences in children and adults with Cystinosis (CTNS gene mutations) [PDF]

Orphanet Journal of Rare Diseases, 2023
Abstract Background Cystinosis, a rare lysosomal storage disease caused by mutations in the CTNS gene, is characterized by cystine crystallization and accumulation within multiple tissues, including kidney and brain. Its impact on neural function appears mild relative to its effects on other organs during early disease, but since therapeutic ...
Douwe J. Horsthuis, Sophie Molholm, John J. Foxe, Ana A. Francisco   +3 more
openalex   +5 more sources

Functional analysis of the CTNS gene exonic variants predicted to affect splicing [PDF]

Clinical Genetics, 2023
Abstract Cystinosis is a severe, monogenic systemic disease caused by variants in CTNS gene. Currently, there is growing evidence that exonic variants in many diseases can affect pre‐mRNA splicing. The impact of CTNS gene exonic variants on splicing regulation may be underestimated due to the lack of routine studies at the RNA level ...
Changying Li, Ruixiao Zhang, Fengjiao Pan, Xin Qing, Xiaomeng Shi, Wencong Guo, Dan Qiao, Zhi Wang, Yiyin Zhang, Xuyan Liu, Yan Zhang, Leping Shao   +11 more
openalex   +3 more sources