Results 151 to 160 of about 2,523,567 (168)

Cystinosis induced by CTNS gene mutation: a rare disease study.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2021
A boy, aged 1 year and 6 months, was found to have persistent positive urine glucose at the age of 4 months, with polydipsia, polyuria, and growth retardation. Laboratory examinations suggested that the boy had low specific weight urine, anemia, hypokalemia, hyponatremia, hypomagnesemia, metabolic acidosis, glycosuria, acidaminuria, increased ...
Xin, Wang, Bi-Li, Zhang, Xiao-Ying, Chen, Zhen, Guo   +3 more
openaire   +1 more source

Identification and Detection of the Common 65-kb Deletion Breakpoint in the Nephropathic Cystinosis Gene (CTNS)

Molecular Genetics and Metabolism, 1999
The most common mutation in the cystinosis gene, CTNS, is a 65-kb deletion thought to have originated in Germany. Although homozygotes for this deletion are detectable by the absence of the D17S829 polymorphic marker, no method exists to identify heterozygotes.
Y, Anikster, C, Lucero, J W, Touchman, M, Huizing, G, McDowell, V, Shotelersuk, E D, Green, W A, Gahl   +7 more
openaire   +2 more sources

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  

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

2023
  +4 more sources

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

2023
null Changying Li, null Ruixiao Zhang, null Fengjiao Pan, null Qing Xin, null Xiaomeng Shi, null Wencong Guo, null Dan Qiao, null Zhi Wang, null Yiyin Zhang, null Xuyan Liu, null Yan Zhang, null Leping Shao   +11 more
openaire   +1 more source