深入研究：发现致病性内含子变异并使其具有可操作性

IF 26.8 1区医学 Q1 GASTROENTEROLOGY & HEPATOLOGY

Journal of Hepatology Pub Date : 2025-04-15 DOI:10.1016/j.jhep.2025.04.013

Benedikt Schaefer, Heinz Zoller

{"title":"深入研究：发现致病性内含子变异并使其具有可操作性","authors":"Benedikt Schaefer, Heinz Zoller","doi":"10.1016/j.jhep.2025.04.013","DOIUrl":null,"url":null,"abstract":"<h2>Section snippets</h2><section><section><h2>Conflict of interest:</h2>The authors declare no conflicts of interest that pertain to this work. Please refer to the accompanying ICMJE disclosure forms for further details.</section></section><section><section><h2>Authors’ contributions:</h2>BS and HZ wrote the manuscript and prepared the figure.Diagnostic pathways for liver diseases are guided by clinical and biochemical presentation, as well as by findings from imaging studies<sup>1</sup>. The most common imaging finding suggestive of liver disease is hepatic steatosis, which is present in 25% to 30% of the general population on abdominal ultrasound examinations2, 3. Hepatic steatosis is frequently caused by increased alcohol intake and cardiometabolic risk factors, and is classified as</section></section><section><section><h2>Financial support:</h2>The financial support by the Austrian Federal Ministry of Labour and Economy, the National Foundation for Research, Technology and Development and the Christian Doppler Research Association is gratefully acknowledged.</section></section>","PeriodicalId":15888,"journal":{"name":"Journal of Hepatology","volume":"243 1","pages":""},"PeriodicalIF":26.8000,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Diving deep: finding pathogenic intronic variants and making them actionable\",\"authors\":\"Benedikt Schaefer, Heinz Zoller\",\"doi\":\"10.1016/j.jhep.2025.04.013\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<h2>Section snippets</h2><section><section><h2>Conflict of interest:</h2>The authors declare no conflicts of interest that pertain to this work. Please refer to the accompanying ICMJE disclosure forms for further details.</section></section><section><section><h2>Authors’ contributions:</h2>BS and HZ wrote the manuscript and prepared the figure.Diagnostic pathways for liver diseases are guided by clinical and biochemical presentation, as well as by findings from imaging studies<sup>1</sup>. The most common imaging finding suggestive of liver disease is hepatic steatosis, which is present in 25% to 30% of the general population on abdominal ultrasound examinations2, 3. Hepatic steatosis is frequently caused by increased alcohol intake and cardiometabolic risk factors, and is classified as</section></section><section><section><h2>Financial support:</h2>The financial support by the Austrian Federal Ministry of Labour and Economy, the National Foundation for Research, Technology and Development and the Christian Doppler Research Association is gratefully acknowledged.</section></section>\",\"PeriodicalId\":15888,\"journal\":{\"name\":\"Journal of Hepatology\",\"volume\":\"243 1\",\"pages\":\"\"},\"PeriodicalIF\":26.8000,\"publicationDate\":\"2025-04-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Hepatology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1016/j.jhep.2025.04.013\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"GASTROENTEROLOGY & HEPATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Hepatology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.jhep.2025.04.013","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"GASTROENTEROLOGY & HEPATOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

利益冲突：作者声明本工作不存在利益冲突。详情请参阅随附的ICMJE披露表格。作者贡献：BS和HZ撰写了稿件并准备了图表。肝脏疾病的诊断途径以临床和生化表现以及影像学检查结果为指导。肝脏疾病最常见的影像学表现是肝脂肪变性，在腹部超声检查中，一般人群中有25%至30%存在肝脂肪变性2,3。肝脂肪变性通常是由酒精摄入量增加和心脏代谢危险因素引起的，并被归类为财政支持：奥地利联邦劳动和经济部、国家研究、技术和发展基金会和基督教多普勒研究协会的财政支持，我们对此表示感谢。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Diving deep: finding pathogenic intronic variants and making them actionable

Section snippets

Conflict of interest:

The authors declare no conflicts of interest that pertain to this work. Please refer to the accompanying ICMJE disclosure forms for further details.

Authors’ contributions:

BS and HZ wrote the manuscript and prepared the figure.Diagnostic pathways for liver diseases are guided by clinical and biochemical presentation, as well as by findings from imaging studies¹. The most common imaging finding suggestive of liver disease is hepatic steatosis, which is present in 25% to 30% of the general population on abdominal ultrasound examinations2, 3. Hepatic steatosis is frequently caused by increased alcohol intake and cardiometabolic risk factors, and is classified as

Financial support:

The financial support by the Austrian Federal Ministry of Labour and Economy, the National Foundation for Research, Technology and Development and the Christian Doppler Research Association is gratefully acknowledged.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Journal of Hepatology 医学-胃肠肝病学

CiteScore

46.10

自引率

4.30%

发文量

2325

审稿时长

30 days

期刊介绍： The Journal of Hepatology is the official publication of the European Association for the Study of the Liver (EASL). It is dedicated to presenting clinical and basic research in the field of hepatology through original papers, reviews, case reports, and letters to the Editor. The Journal is published in English and may consider supplements that pass an editorial review.