Results 81 to 90 of about 1,581 (148)

Cystinosis induced by CTNS gene mutation: a rare disease study. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi, 2021
Wang X, Zhang BL, Chen XY, Guo Z.
europepmc   +1 more source

Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classification

Frontiers in Genetics
Genetic variability persists across diverse populations, and it may impact the characterization of heritable diseases in different ancestral groups. Cystinosis is a metabolic disease caused by pathogenic variants in the CTNS gene causing the cellular ...
Chen-Han Wilfred Wu, Chen-Han Wilfred Wu, Alicja Tomaszewski, Alicja Tomaszewski, Louisa Stark, Fernando Scaglia, Ewa Elenberg, Fredrick R. Schumaker   +7 more
doaj   +1 more source

Unveiling cystinosis in India

Journal of Rare Diseases
Background Cystinosis, a rare autosomal recessive disease, stems from genetic alterations in the CTNS gene, leading to a malfunction of lysosomal ‘cystinosin’ protein.
Aniruddh Heroor, Anshuman Verma, Divya Sree Achanta, Deepak Paul Edward, Muralidhar Ramappa   +4 more
doaj   +1 more source

Cysteamine hydrochloride eye drop solution for the treatment of corneal cystine crystal deposits in patients with cystinosis: an evidence-based review

Clinical Ophthalmology, 2018
Achini K Makuloluwa, Fatemeh Shams Tennent Institute of Ophthalmology, Gartnavel General Hospital, Glasgow, UK Abstract: Cystinosis is a rare, autosomal recessive disorder leading to defective transport of cystine out of lysosomes.
Makuloluwa AK, Shams F
doaj  

Ocular cystinosis – Clinical presentation and review of the literature

Indian Journal of Ophthalmology. Case Reports
Cystinosis is one of the rarest multisystem lysosomal storage disorders characterized by the accumulation of cystine in lysosomes due to a defective CTNS gene. Infantile nephropathic cystinosis (INC) is the most common and severe phenotype. Varied ocular
Shweta Dhiman, Santosh K Mahapatra, Anjalika Parhi, Pallavi Shree, Parul Jain   +4 more
doaj   +1 more source

Additional file 1 of Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations)

Additional file 1. Averaged ERPs per group over parietal, parietal-occipital, and occipital channels.
Horsthuis, Douwe J., Molholm, Sophie, Foxe, John J., Francisco, Ana A.   +3 more
openaire   +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

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

Cystinosis and Cellular Energy Failure: Mitochondria at the Crossroads. [PDF]

Int J Mol Sci
Bellomo F, De Rasmo D.
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