Results 71 to 80 of about 1,581 (148)

Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair.

Nephron, 2019
Mutations in the CTNS gene encoding the lysosomal membrane cystine transporter cystinosin are the cause of cystinosis, an autosomal recessive lysosomal storage disease. More than 140 CTNS mutations have been reported worldwide. Recent studies have discovered that cystinosin exerts other key cellular functions beyond cystine transport such as regulation
David, Dries, Berlingerio, Sante Princiero, Elmonem, Mohamed A., Arcolino, Fanny Oliveira, Soliman, Neveen, van den Heuvel, Bert, Gijsbers, Rik, Levtchenko, Elena   +7 more
openaire   +2 more sources

Nlrp2 deletion ameliorates kidney damage in a mouse model of cystinosis

Frontiers in Immunology
Cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene that encodes cystinosin, a ubiquitous lysosomal cystine/H+ antiporter.
Marianna Nicoletta Rossi, Marianna Nicoletta Rossi, Valentina Matteo, Francesca Diomedi-Camassei, Ester De Leo, Olivier Devuyst, Mohamed Lamkanfi, Ivan Caiello, Elena Loricchio, Francesco Bellomo, Anna Taranta, Francesco Emma, Fabrizio De Benedetti, Giusi Prencipe   +13 more
doaj   +1 more source

Omic Studies on In Vitro Cystinosis Model: siRNA-Mediated CTNS Gene Silencing in HK-2 Cells

Laboratory Investigation
Cystinosis is an autosomal recessive disease caused by mutations in the CTNS gene encoding a protein called cystinosine, which is a lysosomal cystine transporter. Disease-causing mutations lead to accumulation of cystine crystals in the lysosomes, thereby causing dysfunction of vital organs. Determination of the increased leukocyte cystine level is one
İpek Baysal, Samiye Yabanoglu-Ciftci, Emirhan Nemutlu, Cemil Can Eylem, Elif Damla Gök-Topak, Kezban Ulubayram, Sedef Kır, Bora Gulhan, Gülberk Uçar, Fatih Ozaltin, Rezan Topaloglu   +10 more
openaire   +3 more sources

Molecular based newborn screening in Germany: Follow-up for cystinosis

Molecular Genetics and Metabolism Reports, 2019
Background: Newborn screening (NBS) programs for treatable metabolic disorders have been enormously successful, but molecular-based screening has not been broadly implemented so far.
Katharina Hohenfellner, Carsten Bergmann, Tobias Fleige, Nils Janzen, Siegfried Burggraf, Bernd Olgemöller, William A. Gahl, Ludwig Czibere, Sonja Froschauer, Wulf Röschinger, Katharina Vill, Erik Harms, Uta Nennstiel   +12 more
doaj   +1 more source

Comment on: “Neuropathic Cystinosis: A Rare Case Report”

مجله كليه طب الكندي
This letter to the editor provides commentary on a previously published case and highlights additional diagnostic and genetic considerations in cystinosis.
Ali Abdul Razzak Obaid, Mohammed Jalal Hussein, Hakam Al Khalidy, Suzan Al-Mayahi   +3 more
doaj   +1 more source

Nephropathic cystinosis presenting with uveitis: Report of a “Can't See, Can't Pee” situation

Indian Journal of Pathology and Microbiology, 2019
Nephropathic cystinosis is a rare autosomal recessive lysosomal disease characterized by accumulation of pathognomonic cystine crystals in renal and other tissues of the body.
Smita Mary Matthai, Shibu Jacob, Mandeep S Bindra, Vinoi George David, Santosh Varughese   +4 more
doaj   +1 more source

Phenotypic variability in cystinosis: Lessons from an atypical case

Nefrología (English Edition)
Cystinosis is a rare monogenic autosomal recessive disorder caused by pathogenic variants in the CTNS gene, encoding cystinosin. Loss-of-function of cystinosin leads to intralysosomal cystine accumulation, resulting in cellular dysfunction and ...
Diego Toso, Monica Furlano, Adria Tinoco, Tania Sensat Saltor, Elisabet Ars, Roser Torra   +5 more
doaj   +1 more source

Therapeutic strategies in cystinosis: A focus on cysteamine and beyond

Experimental and Molecular Pathology
Cystinosis is a autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene, which encodes cystinosin, a cystine transporter.
Angelo Santoro, Yuri Vincenzo Ferrara, Alfonso De Angelis   +2 more
doaj   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source