Results 161 to 170 of about 2,676,573 (175)

[Analysis of SLC25A13 gene mutations and prenatal diagnosis for 20 families affected with citrin deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2019
To detect mutations of SLC25A13 gene in 20 families affected with citrin deficiency and provide prenatal diagnosis for them.The 20 probands and their parents were subjected to high-frequency mutation screening combined with Sanger sequencing. After confirming the genotype of each pedigree, genetic counseling and prenatal diagnosis were performed for ...
Shanshan, Shi, Xiaomei, Tang, Zijian, Shi, Qingbing, Zha, Ying, Cheng, Zhanhui, Zhang, Xiaomin, Xiao, Yandong, Yang, Yuanzong, Song   +8 more
openaire   +1 more source

[Analysis of SLC25A13 gene mutations in five infants with neonatal intrahepatic cholestasis caused by citrin deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2018
OBJECTIVE To identify potential mutations in five infants with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). METHODS The SLC25A13 gene was analyzed by next-generation sequencing. Suspected mutations were confirmed by PCR and Sanger sequencing in the probands and their parents.
Junjie, Xu, Min, Gao, Yuqiang, Lyu, Yunping, Tang, Xuxia, Wei, Lu, Yang, Kaihui, Zhang, Yi, Liu, Zhongtao, Gai   +8 more
openaire   +1 more source

Abstract 5684: The role of the lncRNA Slamon and Slc25a13 neighbor gene in melanoma aggressiveness

Cancer Research
Abstract Melanomas are responsible for about 80% of all deaths related to skin cancers. This is due to its high potential of metastasizing and developing resistance to treatments. Novel therapeutic modalities and the identification of biomarkers able to predict the prognosis are necessary.
Beatriz C. Tonin, Ana L. Ayub, André H. Lengert, Sang W. Han, Eduardo M. Reis, Frank J. Slack, Miriam G. Jasiulionis   +6 more
openaire   +1 more source

First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene.

Genetic counseling (Geneva, Switzerland), 2014
Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene and has three phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in newborns, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) in older children, and recurrent hyperammonemia with neuropsychiatric symptoms ...
D M, Avdjieva-Tzavella, M B, Ivanova, T P, Todorov, A P, Todorova, E I, Panteleeva, S S, Tincheva, E A, Lazarova, H M, Kathom, P G, Yaneva, R S, Tincheva   +9 more
openaire   +1 more source

[Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency].

Zhonghua er ke za zhi = Chinese journal of pediatrics, 2010
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD, OMIM #605814) is a novel autosomal recessive disease caused by mutations in the gene SLC25A13 that encodes for citrin, a liver-type aspartate/glutamate carrier located in the mitochondrial inner membrane. SLC25A13 was cloned in 1999 by Kobayashi et al at Kagoshima University in Japan,
Yuan-zong, Song, Jian-sheng, Sheng, Miharu, Ushikai, Wuh-liang, Hwu, Chun-hua, Zhang, Keiko, Kobayashi   +5 more
openaire   +1 more source

[Improving the diagnostic method for the SLC25A13 gene 851del4 mutation and analysis of the common mutation frequencies in Quanzhou area].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2011
To ascertain whether the carrier rate is high in Quanzhou which is next to Taiwan in South of the Yangtze River.Population analysis of three SLC25A13 mutations, i.e. 851del4, 1638-1660 dup, and IVS6+ 5G to A was carried out in 450 healthy individuals.
Hong-zhi, Gao, Qiu-lan, Li, Xiang-long, Zhuang, Kobayashi, Keiko, Ushikai, Miharu, Saheki, Takeyori, Wei-peng, Hu, Chang-wen, Zhou, Ling, Lin   +8 more
openaire   +1 more source

[Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2010
To investigate the clinical and laboratory features of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and to characterize the molecular basis and prognosis of this disease.Twenty-six patients with NICCD were collected because of idiopathic intrahepatic cholestasis and jaundice.
Ya-zhi, Xing, Wen-juan, Qiu, Jun, Ye, Lian-shu, Han, Shan-shan, Xu, Hui-wen, Zhang, Xiao-lan, Gao, Yu, Wang, Xue-fan, Gu   +8 more
openaire   +1 more source

A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant

Gene, 2023
Noam Shomron, Nimrod Sachs, Irit Krause
exaly  

Efficacy of a MCT supplementation with galactose restricted diet in an infant with citrin deficiency and a novel variant in the SLC25A13 gene

Clinical Biochemistry, 2014
Hilal K. Al Mandhari, Marie Lefrançois, Patricia Li, Veronique D. Morinville, Walla Al-Hertani   +4 more
openaire   +1 more source

Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency with SLC25A13 Mutation Presenting Hepatic Steatosis and Prolonged Jaundice. A Rare Case Report

Medicina (Lithuania), 2021
Wen-Li Lu, Chung-Hsing Wang, Shu-Wei Hu
exaly