Results 81 to 90 of about 1,485 (158)

Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the <b><i>CTNS</i></b> Gene, and Potential for Repair [PDF]

, 2018
Dries David, Sante Princiero Berlingerio, Mohamed A. Elmonem, Fanny Oliveira Arcolino, Neveen A. Soliman, Bert van den Heuvel, Rik Gijsbers, Elena Levtchenko   +7 more
openalex   +1 more source

Neuropathic Cystinosis: A Rare Case Report

مجله كليه طب الكندي
Cystinosis is a lysosomal storage disease characterized by an intracellular accumulation of cystine in different organs and tissues, leading to potentially severe organ dysfunction.
Ahmed Muthana, Rabab Farhan Thejeal, Ikhlas Ali Ahmed   +2 more
doaj   +1 more source

Novel truncating mutation in the CTNS gene in an Egyptian family with cases of infantile nephropathic cystinosis and congenital heart malformations [PDF]

, 2012
Mohammad Al-Haggar, Anna Taranta, Amany El-Hawary, Afaf Alsaid, Abdel-Aziz Shaban, Yahya Wahba   +5 more
openalex   +1 more source

Breakpoint Identification, Detection and Frequency of the 65-kb Deletion in the Cystinosis Gene, CTNS [PDF]

, 1999
Yair Anikster, Cynthia Lucero, Jeffrey W. Touchman, Marjan Huizing, Geraldine McDowel, Vorasuk Shotelersuk, Eric D. Green, William A. Gahl   +7 more
openalex   +1 more source

The Promoter of a Lysosomal Membrane Transporter Gene, CTNS, Binds Sp-1, Shares Sequences with the Promoter of an Adjacent Gene, CARKL, and Causes Cystinosis If Mutated in a Critical Region [PDF]

, 2001
Chanika Phornphutkul, Yair Anikster, Marjan Huizing, Paula Braun, Chaya Brodie, Janice Y. Chou, William A. Gahl   +6 more
openalex   +1 more source

Infantile Nephropathic Cystinosis - Homozygous c.516dupC Mutation of the CTNS Gene

, 2022
Vaia Dokousli, Liana Fidani, Despoina Tramma, Athanasios Evangeliou, Maria Ziaka   +4 more
openalex   +2 more sources

Transcriptional and Posttranscriptional Regulation of the CTNS Gene [PDF]

, 2011
Serena Corallini, Anna Taranta, Francesco Bellomo, Alessia Palma, Anna Pastore, Francesco Emma   +5 more
openalex   +1 more source

Lysosomal reduced thiols are essential for mouse embryonic development. [PDF]

Proc Natl Acad Sci U S A
Adelmann CH, Venkatachalam A, Huang L, Liu M, Germana S, Harry SA, Rosen PC, Herron J, Tien PC, Bar-Peled L, Sabatini DM, Fisher DE.   +11 more
europepmc   +1 more source

Genome-wide DNA methylation analysis identifies kidney epigenetic dysregulation in a cystinosis mouse model. [PDF]

Front Cell Dev Biol
Rossi MN, Ciolfi A, Matteo V, Pedace L, Nardini C, Loricchio E, Caiello I, Bellomo F, Taranta A, De Leo E, Tartaglia M, Emma F, De Benedetti F, Miele E, Prencipe G.   +14 more
europepmc   +1 more source

Mobilome of Environmental Isolates of <i>Clostridioides difficile</i>. [PDF]

Antibiotics (Basel)
Blau K, Gallert C.
europepmc   +1 more source