VARIANTS

作品数：613被引量：1047H指数：14
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Clinical,genetic and functional perspectives on ATP-binding cassette subfamily B member 4 variants in five cholestasis adults
《World Journal of Gastroenterology》2025年第14期142-156,共15页Yu-Hang Weng Yu-Feng Zheng Dan-Dan Yin Qing-Fang Xiong Jin-Long Li Shun-Xin Li Wei Chen Yong-Feng Yang 
Supported by the National Natural Science Foundation of China,No.81970454.
BACKGROUND ATP-binding cassette subfamily B member 4(ABCB4)deficiency is associated with cholestatic liver disease primarily because of missense mutations,and many variants remain unidentified.Here,we validate the pat...
关键词：ATP-binding cassette subfamily B member 4 Multidrug resistance protein 3 CHOLESTASIS Functional analysis CLINICAL Gene mutation Whole-exome sequencing 
Germline BRCA2 variants in advanced pancreatic acinar cell carcinoma:A case report and review of literature被引量：1
《World Journal of Gastroenterology》2022年第45期6421-6432,共12页Cha Len Lee Spring Holter Ayelet Borgida Anna Dodd Stephanie Ramotar Robert Grant Kristy Wasson Elena Elimova Raymond W Jang Malcolm Moore Tae Kyoung Kim Korosh Khalili Carol-Anne Moulton Steven Gallinger Grainne M O’Kane Jennifer J Knox 
BACKGROUND Pancreatic acinar cell carcinoma(PACC)is a rare tumor.Up to 45%of PACCs have alterations in the DNA damage repair pathway and 23%harbor rearrangements in the BRAF or RAF1 genes.We present a PACC case with a...
关键词：Pancreatic acinar carcinoma BRCA Polyadenosine diphosphate-ribose polymerase inhibitor Case report 
Identification of functional tumor necrosis factor-alpha promoter variants associated with Helicobacter pylori infection in the Sudanese population: Computational approach
《World Journal of Gastroenterology》2022年第2期242-262,共21页Abeer Babiker Idris Alaa B Idris Manal A Gumaa Mohammed Babiker Idris Amanda Elgoraish Mohamed Mansour Dalia Allam Bashir MO Arbab Nazar Beirag El-Amin M Ibrahim Mohamed A Hassan 
BACKGROUND Helicobacter pylori(H.pylori)is a ubiquitous bacterium that affects nearly half of the world’s population with a high morbidity and mortality rate.Polymorphisms within the tumor necrosis factor-alpha(TNF-A...
关键词：5’-region PROMOTER TNF-A Helicobacter pylori In silico analysis SUDAN 
Apolipoprotein E variants correlate with the clinical presentation of paediatric inflammatory bowel disease:A cross-sectional study
《World Journal of Gastroenterology》2021年第14期1483-1496,共14页Aleksandra Glapa-Nowak Mariusz Szczepanik Barbara Iwańczak Jarosław Kwiecień Anna Barbara Szaflarska-Popławska Urszula Grzybowska-Chlebowczyk Marcin Osiecki Marcin Dziekiewicz Andrzej Stawarski Jarosław Kierkuś Tomasz Banasiewicz Aleksandra Banaszkiewicz Jarosław Walkowiak 
The National Science Centre,Poland,No.2017/25/B/NZ5/02783(to Walkowiak J).
BACKGROUND It has been suggested that apolipoprotein E(APOE)polymorphisms are associated with the risk of developing inflammatory bowel disease(IBD)and the early age of disease onset.However,there are no reports regar...
关键词：Apolipoprotein E polymorphism Crohn’s disease Ulcerative colitis IMMUNOSUPPRESSION SURGERY Disease severity 
Hepatitis B virus pre-S/S variants in liver diseases被引量：14
《World Journal of Gastroenterology》2018年第14期1507-1520,共14页Bing-Fang Chen 
Supported by the grant from the National Science Council(NSC 96-2320-B-030-004-MY3),Executive Yuan,Taiwan
Chronic hepatitis B is a global health problem. The clinical outcomes of chronic hepatitis B infection include asymptomatic carrier state, chronic hepatitis(CH), liver cirrhosis(LC), and hepatocellular carcinoma(HCC)....
关键词：HEPATITIS B virus pre-S/S mutant pre-S DELETION SPLICE variant spPS1 chronic HEPATITIS liver cirrhosis hepatocellular carcinoma 
Influence of NUDT15 variants on hematological pictures of patients with inflammatory bowel disease treated with thiopurines被引量：3
《World Journal of Gastroenterology》2018年第4期511-518,共8页Yuichiro Kojima Yosuke Hirotsu Wataru Omata Makoto Sugimori Shinya Takaoka Hiroshi Ashizawa Keiko Nakagomi Dai Yoshimura Kenji Hosoda Yoji Suzuki Hitoshi Mochizuki Masao Omata 
AIM The single nucleotide polymorphism(SNP) c.415C>T in exon 3 of NUDT15 affects thiopurine-induced leukopenia in Asian patients with Crohn's disease. Meanwhile, three additional genetic variants of NUDT15 were report...
关键词：Inflammatory BOWEL disease NUDT15 LEUKOPENIA Mean corpuscular volume Japanese 
Analysis of 12 variants in the development of gastric and colorectal cancers
《World Journal of Gastroenterology》2017年第48期8533-8543,共11页Giovanna C Cavalcante Marcos AT Amador Andre M Ribeiro dos Santos Darlen C Carvalho Roberta B Andrade Esdras EB Pereira Marianne R Fernandes Danielle F Costa Ney PC Santos Paulo P Assumpcao Andrea Ribeiro dos Santos Sidney Santos 
Supported by Conselho Nacional de Desenvolvimento Científico e Tecnológico(CNPq);Coordenacao de Aperfeicoamento de Pessoal de Nível Superior(CAPES);Pró-Reitoria de Pesquisa e Pós-Graduacao da Universidade Federal do Pará/Fundacao Amparo e Desenvolvimento da Pesquisa(PROPESP-UFPA/FADESP)
AIM To evaluate the relation between 12 polymorphisms and the development of gastric cancer(GC) and colorectal cancer(CRC).METHODS In this study,we included 125 individuals with GC diagnosis,66 individuals with CRC di...
关键词：Inflammatory processes Immune response Genomic and cellular stability Gastric cancer Colorectal cancer AMAZON 
Association of keratin 8/18 variants with non-alcoholic fatty liver disease and insulin resistance in Chinese patients: A case-control study被引量：2
《World Journal of Gastroenterology》2017年第22期4047-4053,共7页Rui Li Xian-Hua Liao Jun-Zhao Ye Min-Rui Li Yan-Qin Wu Xuan Hu Bi-Hui Zhong 
Supported by National Natural Science Foundation of China,No.81670518 and No.81170392;The Science and Technology Project of Guangdong Province,China,No.2013B021800290 and No.2014A020212118;Guangzhou Science and Technology Innovation Commission,China,No.201604020155
AIM To test the hypothesis that K8/K18 variants predispose humans to non-alcoholic fatty liver disease(NAFLD) progression and its metabolic phenotypes. METHODS We selected a total of 373 unrelated adult subjects from ...
关键词：KERATIN VARIANT Non-alcoholic fatty liver disease Insulin resistance Chinese population 
Altered pattern of tumor necrosis factor-alpha production in peripheral blood monocytes from Crohn's disease
《World Journal of Gastroenterology》2016年第41期9117-9126,共10页Claudia Loganes Alessia Pin Samuele Naviglio Martina Girardelli Anna Monica Bianco Stefano Martelossi Alberto Tommasini Elisa Piscianz 
Supported by Institute for Maternal and Child Health,IRCCS"Burlo Garofolo",No.RC 03/2009
AIM To evaluate the inflammatory state in Crohn's disease(CD) patients and correlate it with genetic background and microbial spreading.METHODS By means of flow cytometry, production of tumor necrosis factor-alpha(TNF...
关键词：Crohn’s disease Ulcerative colitis Tumor necrosis factor-α NOD2 variants Toll like receptors DYSBIOSIS Activity index LPS-binding protein 
Association of colorectal cancer susceptibility variants with esophageal cancer in a Chinese population被引量：6
《World Journal of Gastroenterology》2015年第22期6898-6904,共7页Ting-Ting Geng Xiao-Jie Xun Sen Li Tian Feng Li-Ping Wang Tian-Bo Jin Peng Hou 
Supported by National 863 High-Technology Research and Development Program,No.2012AA02A519
AIM: To investigate the association between colorectal cancer(CRC) genetic susceptibility variants and esophageal cancer in a Chinese Han population.METHODS: A case-control study was conducted including 360 esophageal...
关键词：Colorectal CANCER ESOPHAGEAL CANCER Single-nucleotide polymorphism SUSCEPTIBILITY 
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