Zobrazeno 1 - 10
of 194
pro vyhledávání: '"Jian-she Wang"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-6 (2024)
Abstract Background Clinical studies on progressive familial intrahepatic cholestasis (PFIC) type 5 caused by mutations in NR1H4 are limited. Methods New patients with biallelic NR1H4 variants from our center and all patients from literature were ret
Externí odkaz:
https://doaj.org/article/5c44efdb6fbb44ec864d3020c7550daa
Autor:
Zhong-qi Pang, Jian-she Wang, Jin-feng Wang, Ya-xuan Wang, Bo Ji, Yi-dan Xu, Jia-xin He, Lu Zhang, Li-qiu Zhang, Bei-chen Ding, Yang Liu, Ming-hua Ren
Publikováno v:
Biomolecules & Biomedicine (2024)
To identify novel biomarkers for predicting prognosis and immune function in bladder cancer (BC) patients, we combined weighted correlation network analysis (WGCNA) and least absolute shrinkage and selection operator (LASSO) regression analysis by us
Externí odkaz:
https://doaj.org/article/9fbc147041bf4054b5f0aa2def75aaf8
Autor:
Neng-Li Wang, Jing Lin, Lian Chen, Yi Lu, Xin-Bao Xie, Kuerbanjiang Abuduxikuer, Jian-She Wang
Publikováno v:
BMC Gastroenterology, Vol 22, Iss 1, Pp 1-8 (2022)
Abstract Background Patients with acid sphingomyelinase deficiency (ASMD) may be referred to a hepatologist for liver manifestations. This study summarized the liver manifestations of patients with ASMD in the early disease course. Methods This study
Externí odkaz:
https://doaj.org/article/55c72eb476f1412faf2432642bed7afc
Autor:
Xia Wei, Yuan Fang, Jian-She Wang, Yi-Zhen Wang, Yuan Zhang, Kuerbanjiang Abuduxikuer, Lian Chen
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundNeonatal sclerosing cholangitis (NSC) is a rare and severe autosomal recessive inherited liver disease with mutations in DCDC2, commonly requiring liver transplantation (LT) for decompensated biliary cirrhosis in childhood.MethodsThe inform
Externí odkaz:
https://doaj.org/article/9792fab641264e9f9ef202f4ca9d8eaa
Autor:
Antonia Felzen, Daan B.E. van Wessel, Emmanuel Gonzales, Richard J. Thompson, Irena Jankowska, Benjamin L. Shneider, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter Broering, Emanuele Nicastro, Deirdre Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B.F. Hulscher, Daniele Serranti, Cigdem Arikan, Esra Polat, Dominique Debray, Florence Lacaille, Cristina Goncalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer-Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsőfi, Pier Luigi Calvo, Enke Grabhorn, Steffen Hartleif, Wendy J. van der Woerd, Binita M. Kamath, Jian-She Wang, Liting Li, Özlem Durmaz, Nanda Kerkar, Marianne Hørby Jørgensen, Ryan Fischer, Carolina Jimenez-Rivera, Seema Alam, Mara Cananzi, Noemie Laverdure, Cristina Targa Ferreira, Felipe Ordoñez Guerrero, Heng Wang, Valerie Sency, Kyung Mo Kim, Huey-Ling Chen, Elisa de Carvalho, Alexandre Fabre, Jesus Quintero Bernabeu, Aglaia Zellos, Estella M. Alonso, Ronald J. Sokol, Frederick J. Suchy, Kathleen M. Loomes, Patrick J. McKiernan, Philip Rosenthal, Yumirle Turmelle, Simon Horslen, Kathleen Schwarz, Jorge A. Bezerra, Kasper Wang, Bettina E. Hansen, Henkjan J. Verkade
Publikováno v:
JHEP Reports, Vol 5, Iss 2, Pp 100626- (2023)
Background & Aims: Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.E297G mutations are associated with rela
Externí odkaz:
https://doaj.org/article/bbb97439dbff47198444dd0e83e7f0cb
Autor:
Jing Zhao, Kenneth D. R. Setchell, Ying Gong, Yinghua Sun, Ping Zhang, James E. Heubi, Lingjuan Fang, Yi Lu, Xinbao Xie, Jingyu Gong, Jian-She Wang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Abstract Background Biallelic variants in HSD3B7 cause 3β-hydroxy-Δ5-C27-steroid oxidoreductase (HSD3B7) deficiency, a life-threatening but treatable liver disease. The goal of this study was to obtain detailed information on the correlation betwee
Externí odkaz:
https://doaj.org/article/5f7256cd653545d5b45ec79e65978242
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
ObjectiveTo report a case of glycogen storage disease (GSD) type Ia misdiagnosed as multiple acyl-coenzyme a dehydrogenase deficiency (MADD) by mass spectrometry.MethodsA 7 months old boy was admitted to our hospital for elevated transaminase levels
Externí odkaz:
https://doaj.org/article/58e1783a82f44884a0eb89d58adb59bf
Publikováno v:
BMC Gastroenterology, Vol 21, Iss 1, Pp 1-10 (2021)
Abstract Background Deficiency of oxysterol 7α-hydroxylase, encoded by CYP7B1, is associated with fatal infantile progressive intrahepatic cholestasis and hereditary spastic paraplegia type 5. Most reported patients with CYP7B1 mutations presenting
Externí odkaz:
https://doaj.org/article/ffe6596b0914420b9aa929481796ebfa
Autor:
Fengfeng Mao, Meng-Xuan Wang, Xinfeng Hou, Zhongmin Zhou, Yan-Yan Yan, Ling-Juan Fang, Zexi Tan, Wei-Yuan Fang, Teng Liu, Wenhui He, Cong Li, Xin-Bao Xie, Shi-Qi Lu, Jianhua Sui, Fengchao Wang, Jun Han, Jian-She Wang, Wenhui Li
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 11, Iss 3, Pp 831-839 (2021)
Externí odkaz:
https://doaj.org/article/72e1b885f4274c9791fc295b9e5aac83
Autor:
Neng-Li Wang, Lian Chen, Yi Lu, Xin-Bao Xie, Jing Lin, Kuerbanjiang Abuduxikuer, Jian-She Wang
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Early diagnosis of Niemann-Pick disease type C (NP-C) in neonatal cholestasis is still challenging because splenomegaly is non-specific and oxysterol profiling studies also have a relatively low specificity. This study explores a method for identifyi
Externí odkaz:
https://doaj.org/article/d623a0ac72a946bc90bef96cca55987b