کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8258541 | 1534609 | 2018 | 36 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Genetic determinants of cholangiopathies: Molecular and systems genetics
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
کلمات کلیدی
BRICRILLPACUDCAPFICPBCGRPPSCICPHCC - HCCAsbt - آزبستGenetic test - آزمون ژنتیکیDrug-induced liver injury - آسیب کبدی ناشی از مواد مخدرAlkaline phosphatase - آلکالین فسفاتاز یا فسفاتاز قلیاییUrsodeoxycholic acid - اورسودوکسی کولیک اسید، اورسودیولComplex disease - بیماری پیچیدهRecombinant inbred lines - خطوط درونی نوترکیبDILI - دیلیPrimary biliary cirrhosis - سیروز صفراوی اولیهquantitative trait locus - علامت کمی صفتGenome-wide association studies - مطالعات مرتبط با ژنومGWAS - مطالعهٔ همخوانی سراسر ژنومHepatocellular carcinoma - کارسینوم هپاتوسلولار(کارسینوم سلولهای استخوانی)Collaborative Cross - کراس همکارPrimary sclerosing cholangitis - کلانژیت اسکلروئیدی اولیهcholestasis - کلستاز Intrahepatic cholestasis of pregnancy - کلستاز داخل شکمی بارداریBenign recurrent intrahepatic cholestasis - کلستاز داخل شکمی رونویسی خوش خیمProgressive familial intrahepatic cholestasis - کلستاز داخل صفاقی خانوادگی پیشرفته
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Familial cholangiopathies are rare but potentially severe diseases. Their spectrum ranges from fairly benign conditions as, for example, benign recurrent intrahepatic cholestasis to low-phospholipid associated cholelithiasis and progressive familial intrahepatic cholestasis (PFIC). Many cholangiopathies such as primary biliary cholangitis (PBC) or primary sclerosing cholangitis (PSC) affect first the bile ducts (“ascending pathophysiology”) but others, such as PFIC, start upstream in hepatocytes and cause progressive damage “descending” down the biliary tree and leading to end-stage liver disease. In recent years our understanding of cholestatic diseases has improved, since we have been able to pinpoint numerous disease-causing mutations that cause familial cholangiopathies. Accordingly, six PFIC subtypes (PFIC type 1-6) have now been defined. Given the availability of genotyping resources, these findings can be introduced in the diagnostic work-up of patients with peculiar cholestasis. In addition, functional studies have defined the pathophysiological consequences of some of the detected variants. Furthermore, ABCB4 variants do not only cause PFIC type 3 but confer an increased risk for chronic liver disease in general. In the near future these findings will serve to develop new therapeutic strategies for patients with liver diseases. Here we present the latest data on the genetic background of familial cholangiopathies and discuss their application in clinical practice for the differential diagnosis of cholestasis of unknown aetiology. As look in the future we present “system genetics” as a novel experimental tool for the study of cholangiopathies and disease-modifying genes. This article is part of a Special Issue entitled: Cholangiocytes in Health and Disease edited by Jesus Banales, Marco Marzioni, Nicholas LaRusso and Peter Jansen.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease - Volume 1864, Issue 4, Part B, April 2018, Pages 1484-1490
Journal: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease - Volume 1864, Issue 4, Part B, April 2018, Pages 1484-1490
نویسندگان
Matthias C. Reichert, Rabea A. Hall, Marcin Krawczyk, Frank Lammert,