Mutational spectrum of the CTNS gene in Egyptian patients with nephropathic cystinosis
NA Soliman, MA Elmonem, L van den Heuvel… - JIMD Reports, Volume …, 2014 - Springer
Background: Nephropathic cystinosis is a rare autosomal recessive disorder caused by
mutations in the CTNS gene, encoding for cystinosin, a carrier protein transporting cystine …
mutations in the CTNS gene, encoding for cystinosin, a carrier protein transporting cystine …
Residual Cystine Transport Activity for Specific Infantile and Juvenile CTNS Mutations in a PTEC-Based Addback Model
L Medaer, D David, M Smits, E Levtchenko… - Cells, 2024 - mdpi.com
Cystinosis is a rare, autosomal recessive, lysosomal storage disease caused by mutations in
the gene CTNS, leading to cystine accumulation in the lysosomes. While cysteamine lowers …
the gene CTNS, leading to cystine accumulation in the lysosomes. While cysteamine lowers …
Cystinosis and two rare mutations in CTNS gene: two case reports
S Gholami Yarahmadi, F Sarlaki… - Journal of Medical Case …, 2022 - Springer
Background Cystinosis is an autosomal recessive disorder characterized by an
accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an …
accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an …
Common mutation causes cystinosis in the majority of black South African patients
EP Owen, J Nandhlal, F Leisegang, G Van der Watt… - Pediatric …, 2015 - Springer
Background The mutations responsible for cystinosis in South African patients are currently
unknown. A pertinent question is whether they are similar to those described elsewhere in …
unknown. A pertinent question is whether they are similar to those described elsewhere in …
First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis
Y Yang, Y Hu, R Zhao, X He, L Zhao… - The Scientific World …, 2015 - Wiley Online Library
Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in
the lysosomal‐membrane transport protein, cystinosin. It serves as a prototype for lysosomal …
the lysosomal‐membrane transport protein, cystinosin. It serves as a prototype for lysosomal …
CTNS 基因突变导致幼儿胱氨酸肾病及角膜结晶
马艳艳, 沈延君, 周玲, 刘玉鹏, 李东晓, 丁圆… - 临床儿科 …, 2016 - jcp.xinhuamed.com.cn
目的探讨胱氨酸病的诊断. 方法回顾性分析1 例胱氨酸病患儿的临床, 生化和基因检测资料.
结果患儿, 女, 4 岁. 2 岁时出现畏光, 眼科检查发现角膜结晶, 3 岁发现双肾结石 …
结果患儿, 女, 4 岁. 2 岁时出现畏光, 眼科检查发现角膜结晶, 3 岁发现双肾结石 …
[HTML][HTML] Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis
Objective Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder
that is characterised by the accumulation of the amino acid cystine in several body tissues …
that is characterised by the accumulation of the amino acid cystine in several body tissues …
A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East
M Najafi, DMK Tamandani, A Azarfar, Z Bakey… - Frontiers in …, 2019 - frontiersin.org
Background: Nephropathic Cystinosis, the most common cause of renal Fanconi syndrome,
is a lysosomal transport disorder with an autosomal recessive inheritance pattern. A large …
is a lysosomal transport disorder with an autosomal recessive inheritance pattern. A large …
[HTML][HTML] CTNS molecular genetics profile in a Persian nephropathic cystinosis population
F Ghazi, R Hosseini, M Akouchekian… - Nefrología (English …, 2017 - Elsevier
Purpose In this report, we document the CTNS gene mutations of 28 Iranian patients with
nephropathic cystinosis age 1–17 years. All presented initially with severe failure to thrive …
nephropathic cystinosis age 1–17 years. All presented initially with severe failure to thrive …
The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population
XQ Li, D Wu, XJ Liang, WJ Li, M Liu, BY Cao… - Journal of Pediatric …, 2019 - degruyter.com
Background Cystinosis is a rare autosomal-recessive disorder caused by a defective
transport of cystine across the lysosomal membrane. Previous studies have mapped …
transport of cystine across the lysosomal membrane. Previous studies have mapped …