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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]

American Journal of Human Genetics, 2001
Although >55 CTNS mutations occur in patients with the lysosomal storage disorder cystinosis, no regulatory mutations have been reported, because the promoter has not been defined. Using CAT reporter constructs of sequences 5' to the CTNS coding sequence, we identified the CTNS promoter as the region encompassing nucleotides -316 to +1 with respect to ...
William Gahl, , Marjan Huizing
exaly   +3 more sources

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Candida albicans CTN gene family is induced during macrophage infection: homology, disruption and phenotypic analysis of CTN3 gene

Fungal Genetics and Biology, 2004
We have isolated a Candida albicans gene, coding for a putative peroxisomal carnitine acetyl transferase (CTN) protein, which is up-regulated during macrophage infection. In the present study, we describe the disruption of CTN3 gene (previously called CAT3) to gain insight into its potential role during infection.
O. PRIGNEAU, PORTA, AMALIA, MARESCA, Bruno   +2 more
openaire   +3 more sources

Mutational and Geographical Distribution of the Ctns Gene in Turkish Patients with Cystinosis

Journal of Surgical Case Reports and Images
Cystinosis is a rare autosomal recessive storage disease that occurs as a result of deficiency of the cystinosine carrier protein caused by mutations in the CTNS gene, which encodes cystinosine, a cysteine carrier in lysosomal membranes. Our study aimed to determine cystinosis gene mutations and their geographical distribution in Turkish pediatric ...
openaire   +1 more source

Molecular Analysis of the CTNS Gene in Indians with Nephropathic Cystinosis

The Indian Journal of Pediatrics, 2016
Anup Arunrao Deshpande, Rajan Ravichandran, Anand Kumar Bachhawat   +2 more
openaire   +1 more source

[Analysis of full-length gene sequence of a rabies vaccine strain CTN-1 for human use in China].

Bing du xue bao = Chinese journal of virology, 2010
CTN-1 is one of the rabies vaccine strains for human use in China, but there has been no report on the full-length gene sequence of CTN-1. In this study, the full-length gene of CTN-1 was amplified by RT-PCR, each PCR product was cloned into T vector and then sequenced, assemblied and compared with other vaccine strains as well as the wild Chinese ...
Lei-tai, Shi, Yong-xin, Yu, Jing-hua, Liu, Jian-rong, Tang, Xiao-hong, Wu, Shou-chun, Cao, Jia, Li, Xiao-min, Qu, Guan-mu, Dong   +8 more
openaire   +1 more source

Analysis of the CTNS gene in 32 cystinosis patients from Spain

Clinical Genetics, 2009
J, Macías-Vidal, M, Rodés, J M, Hernández-Pérez, M A, Vilaseca, M J, Coll   +4 more
openaire   +2 more sources

The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population

Journal of Pediatric Endocrinology and Metabolism, 2019
, Di Wu, Bing-Yan Cao
exaly  

<i>CTNS</i> Molecular Genetics Profile in a Portuguese Cystinosis Population

Open Journal of Genetics, 2018

exaly  

Review for "Functional analysis of the <scp>CTNS</scp> gene exonic variants predicted to affect splicing"

2023
  +4 more sources

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

Middle East Journal of Medical Genetics, 2012
Mohammad Al-Haggar, Anna Taranta, Amany El-Hawary, Afaf Al-Said, Abdel-Aziz Shaban, Yahya Wahba   +5 more
openaire   +1 more source