دورية أكاديمية
Congenital diarrhea and cholestatic liver disease: phenotypic spectrum associated with MYO5B mutations
| العنوان: | Congenital diarrhea and cholestatic liver disease: phenotypic spectrum associated with MYO5B mutations |
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| المؤلفون: | Aldrian, Denise, Vogel, Georg F., Frey, Teresa K., Ayyıldız Civan, Hasret, Aksu, Aysel Ünlüsoy, Avitzur, Yaron, Ramos Boluda, Esther, Çakır, Murat, Demir, Arzu Meltem, Deppisch, Caroline, Duba, Hans-Christoph, Düker, Gesche, Gerner, Patrick, Hertecant, Jozef, Hornová, Jarmila, Kathemann, Simone, Koeglmeier, Jutta, Koutroumpa, Arsinoi, Lanzersdorfer, Roland, Lev-Tzion, Raffi, Lima, Rosa, Mansour, Sahar, Meissl, Manfred, Melek, Jan, Miqdady, Mohamad, Montoya, Jorge Hernan, Posovszky, Carsten, Rachman, Yelena, Siahanidou, Tania, Tabbers, Merit, Uhlig, Holm H., Ünal, Sevim, Wirth, Stefan, Ruemmele, Frank M., Hess, Michael W., Huber, Lukas A., Müller, Thomas, Sturm, Ekkehard, Janecke, Andreas R. |
| بيانات النشر: | Universität Ulm |
| سنة النشر: | 2022 |
| المجموعة: | OPARU (OPen Access Repository of Ulm University) |
| مصطلحات موضوعية: | congenital diarrheal diseases, enteropathy, microvillus inclusion disease, MYO5B, myosin Vb, progressive familial intrahepatic cholestasis, PFIC, genotype–phenotype correlation, lack of protein, tail domain, DDC 610 / Medicine & health, Diarrhea, Cholestasis, Myosins, Kontraktile Proteine, Cholestase, Durchfall, Myosin |
| الوصف: | Myosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polarized cells by RAB11- and RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified in the majority of patients with microvillus inclusion disease (MVID). MVID is an intractable diarrhea of infantile onset with characteristic histopathologic findings that requires life-long parenteral nutrition or intestinal transplantation. A large number of such patients eventually develop cholestatic liver disease. Bi-allelic MYO5B mutations are also identified in a subset of patients with predominant early-onset cholestatic liver disease. We present here the compilation of 114 patients with disease-causing MYO5B genotypes, including 44 novel patients as well as 35 novel MYO5B mutations, and an analysis of MYO5B mutations with regard to functional consequences. Our data support the concept that (1) a complete lack of MYO5B protein or early MYO5B truncation causes predominant intestinal disease (MYO5B-MVID), (2) the expression of full-length mutant MYO5B proteins with residual function causes predominant cholestatic liver disease (MYO5B-PFIC), and (3) the expression of mutant MYO5B proteins without residual function causes both intestinal and hepatic disease (MYO5B-MIXED). Genotype-phenotype data are deposited in the existing open MYO5B database in order to improve disease diagnosis, prognosis, and genetic counseling. ; publishedVersion |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | https://www.mdpi.com/2077-0383/10/3/481/s1Test; http://dx.doi.org/10.18725/OPARU-43530Test; https://oparu.uni-ulm.de/xmlui/123456789/43606Test; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-43606-5Test |
| DOI: | 10.18725/OPARU-43530 |
| الإتاحة: | https://doi.org/10.18725/OPARU-43530Test https://oparu.uni-ulm.de/xmlui/123456789/43606Test http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-43606-5Test |
| حقوق: | CC BY 4.0 International ; https://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: | edsbas.3E0C8565 |
| قاعدة البيانات: | BASE |
| DOI: | 10.18725/OPARU-43530 |
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