Zobrazeno 1 - 10
of 87
pro vyhledávání: '"Yuan Zong Song"'
Autor:
Hui Lin, Hong Jiang, Qiang Chen, Xiang Pan, Mei Deng, Xiang-Ran Cai, Yuan-Zhi Lu, Yuan-Zong Song, Jun-Cheng Liu
Publikováno v:
Discover Oncology, Vol 15, Iss 1, Pp 1-7 (2024)
Abstract Deficiency of citrin, the liver-type aspartate-glutamate carrier, arises from biallelic mutations of the gene SLC25A13. Although citrin deficiency (CD) is associated with higher risk of hepatocellular carcinoma (HCC) in adult patients, this
Externí odkaz:
https://doaj.org/article/653e61a7f83b49bfb0588fffac9cb82b
Autor:
Rong Chen, Feng-Xia Yang, Yan-Fang Tan, Mei Deng, Hua Li, Yi Xu, Wen-Xian Ouyang, Yuan-Zong Song
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal recessive disease caused by pathogenic variants of the gene ABCB4. This study aimed to investigate the ABCB4 genotypic and the clinical phenotypic featur
Externí odkaz:
https://doaj.org/article/746bad5b34af4c09a8071d85965de423
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-4 (2022)
Abstract Background Infantile hypotonia with psychomotor retardation and characteristic facies type 3(IHPRF3) (OMIM #616,900) is an autosomal recessive disorder caused by biallelic pathogenic variants of the TBCK gene, and to date, this disease was r
Externí odkaz:
https://doaj.org/article/55c661483e4f4e52872898cde5c22acd
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Na+-taurocholate cotransporting polypeptide deficiency (NTCPD) is an autosomal recessive disorder arising from biallelic SLC10A1 mutations. As a newly-described inborn error of bile acid metabolism, the epidemiology of this condition remains largely
Externí odkaz:
https://doaj.org/article/0b66dfdbc5a34d3aa99171f8559b3a22
Autor:
Hui Lin, Jian-Wu Qiu, Yaqub-Muhammad Rauf, Gui-Zhi Lin, Rui Liu, Li-Jing Deng, Mei Deng, Yuan-Zong Song
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Sodium taurocholate cotransporting polypeptide (NTCP), a carrier protein encoded by the gene SLC10A1, is expressed in the basolateral membrane of the hepatocyte to uptake bile acids from plasma. As a new inborn error of bile acid metabolism, NTCP def
Externí odkaz:
https://doaj.org/article/1cad9099e3174c07bd34acc82614f6cd
Publikováno v:
Journal of Clinical Medicine; Volume 11; Issue 24; Pages: 7313
Background and aims: Although the significance of primary congenital hypothyroidism (CH) is supported by an increasing amount of evidence, the clinical and genetic characteristics of this condition are still poorly understood. This study aimed to exp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f50a494942136806fe20556348e83cc2
Publikováno v:
Frontiers in Pediatrics, Vol 6 (2018)
Sodium taurocholate cotransporting polypeptide (NTCP) is a carrier protein encoded by the human SLC10A1 gene, acting as the principal transporter of conjugated bile salts from the plasma into hepatocytes. Although NTCP was cloned as early as in 1994
Externí odkaz:
https://doaj.org/article/ed9016358cc84a189b2c46c8261974db
Autor:
Bao-Ni Ye, Xiao-Ling Tao, Jun-Ping Zhang, Han-Shi Zeng, Feng-Ping Chen, Zhan-Hui Zhang, Man Mao, Ya-Rong Li, Zhi-Yong Tan, Muhammad Rauf Yaqub, Wei-Ming Li, Yao-Bin Han, Wei Sheng, Wu-Qiong Duan, Wen-Zhe Cai, Yuan-Xia Li, Zhi-Min Li, Yuan-Zong Song, Yan Li, Ying-Qiang Li, Wei-Xia Lin
Publikováno v:
Transl Pediatr
BACKGROUND: Citrin deficiency (CD) is an autosomal recessive disease resulting from biallelic mutations of the SLC25A13 gene. This study aimed to investigate the molecular epidemiological features of CD in the Guangdong and Shaanxi provinces of China
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a35ef8470fcefdacb6243141eb61b2f3
https://doi.org/10.21037/tp-21-58
https://doi.org/10.21037/tp-21-58
Publikováno v:
Transl Pediatr
Pearson syndrome (PS), also known as Pearson marrow-pancreas syndrome, is a rare, multi-systemic disorder caused by large-scale deletion of mitochondrial DNA (mtDNA) ranging from 2.3 kb to 9 kb, with 4,977 bp in length as the most common variant. Thi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d0a5bd3c518b6f781e75cf9ca19e7f1
https://doi.org/10.21037/tp-20-138
https://doi.org/10.21037/tp-20-138
Autor:
Zhan-Hui Zhang, Wei-Xia Lin, Mei Deng, Shu-Tao Zhao, Han-Shi Zeng, Feng-Ping Chen, Yuan-Zong Song
Publikováno v:
PLoS ONE, Vol 9, Iss 2, p e89267 (2014)
BACKGROUND AND OBJECTIVE: SLC25A13 analysis has provided reliable evidences for the definitive diagnosis of citrin deficiency (CD) in the past decade. Meanwhile, these studies generated some issues yet to be resolved, including the pathogenicity of S
Externí odkaz:
https://doaj.org/article/86672530f4a842e298312782589f0848