Results 131 to 140 of about 1,567 (165)

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

, 2023
Muhammad Ansar
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Molecular Analysis of the CTNS Gene in Indians with Nephropathic Cystinosis

The Indian Journal of Pediatrics, 2016
Anup Deshpande, Rajan Ravichandran, Anand Bachhawat   +2 more
openalex   +2 more sources

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

, 2023
Changying Li, Ruixiao Zhang, Fengjiao Pan, Qing Xin, Xiaomeng Shi, Wencong Guo, Dan Qiao, Zhi Wang, Yiyin Zhang, Xuyan Liu, Yan Zhang, Leping Shao   +11 more
openalex   +2 more sources

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.
Yair Anikster, Cynthia Lucero, Jeffrey W. Touchman, Marjan Huizing, Geraldine A. McDowell, Vorasuk Shotelersuk, E D Green, William A. Gahl   +7 more
openalex   +3 more sources

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

, 2023

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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.
Odile Prigneau, Amalia Porta, Bruno Maresca   +2 more
openalex   +4 more sources

[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

Cancer epigenetics in clinical practice

Ca-A Cancer Journal for Clinicians, 2023
Veronica Davalos, Manel Esteller
exaly