Results 71 to 80 of about 1,485 (158)

Recipient single nucleotide polymorphisms in Paneth cell antimicrobial peptide genes and acute graft‐versus‐host disease: analysis of BMT CTN‐0201 and ‐0901 samples [PDF]

, 2018
Armin Rashidi, Ryan Shanley, Sophia Yohe, Bharat Thyagarajan, Julie Curtsinger, Claudio Anasetti, Edmund K. Waller, Bart L. Scott, Bruce R. Blazar, Daniel J. Weisdorf   +9 more
openalex   +1 more source

The History of Cystinosis: Lessons for Clinical Management

International Journal of Nephrology, 2011
Cystinosis is a rare disorder, and, accordingly, progress on the understanding and treatment of this disease has been relatively slow. Although cystinosis was identified over 100 years ago, the history of cystinosis is marked by a few sudden leaps ...
Paul Goodyer
doaj   +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]

, 2001
C. Anthony Rupar
openalex   +1 more source

Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin.

PLoS ONE, 2015
Nephropathic cystinosis is a lysosomal storage disorder caused by mutations in the CTNS gene encoding cystine transporter cystinosin that results in accumulation of amino acid cystine in the lysosomes throughout the body and especially affects kidneys ...
Ekaterina A Ivanova, Maria Giovanna De Leo, Lambertus Van Den Heuvel, Anna Pastore, Henry Dijkman, Maria Antonietta De Matteis, Elena N Levtchenko   +6 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  

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

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin [PDF]

, 1999
Marlene Attard, G Jean, Lionel Forestier, Stéphanie Cherqui, William van’t Hoff, M. Broyer, Corinne Antignac, M Town   +7 more
openalex   +1 more source

The Genomic Region Encompassing the Nephropathic Cystinosis Gene (CTNS): Complete Sequencing of a 200-kb Segment and Discovery of a Novel Gene within the Common Cystinosis-Causing Deletion [PDF]

, 2000
Jeffrey W. Touchman, Yair Anikster, Nicole Dietrich, Valerie V. Maduro, Geraldine A. McDowell, Vorasuk Shotelersuk, Gerard G. Bouffard, Stephen M. Beckstrom‐Sternberg, William A. Gahl, Eric D. Green   +9 more
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Mutational spectrum of the CTNS gene in Italy [PDF]

, 2003
Silvia Mason, Guglielmina Pepe, Roberto Dall’Amico, Sara Tartaglia, Stefania Casciani, Marcella Greco, Paola Bencivenga, Luisa Murer, Gianfranco Rizzoni, Romano Tenconi, Maurizio Clementi   +10 more
openalex   +1 more source

Expression of Nucleoprotein Gene of CTN Strain Rabies Virus from China in <i>E. coli </i>with Antigenicity

, 2013
Wangbin Cao, Ying He, Shi QiuMei, Yang CaiRan, Yanying Zhang   +4 more
openalex   +2 more sources