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Original title:
Characterization of a Novel Monogenic Form of Liver Failure
Translated title:
Charakterisierung einer neuen monogenetischen Form akuten Leberversagens
Author:
Köpke, Marlies Gwendolyn
Year:
2018
Document type:
Dissertation
Faculty/School:
Fakultät für Medizin
Advisor:
Meitinger, Thomas (Prof. Dr.)
Referee:
Meitinger, Thomas (Prof. Dr.); Knolle, Percy A. (Prof. Dr.)
Language:
en
Subject group:
MED Medizin
Keywords:
NBAS, acute liver failure, temperature sensitivity, fever, congenital liver failure, recurrent liver failure
Translated keywords:
NBAS, akutes Leberversagen, Temperatursensibilität, Fieber, angeborenes Leberversagen, rezidivierendes Leberversagen
TUM classification:
MED 570d
Abstract:
In patients with infantile recurrent acute liver failure, we found biallelic mutations in NBAS. The purpose of this work was to characterize the cellular effects of NBAS mutations, to identify further patients and to describe the phenotype of this novel monogenic form of liver failure. NBAS mutations lead to reduced NBAS protein levels and temperature sensitivity in patient cell lines. My western blot protocol is now used as a diagnostic tool for NBAS mutations of unclear significance.
Translated abstract:
Bei Patienten mit infantilem rezidivierendem akuten Leberversagen identifizierten wir biallelische Mutationen in NBAS. Diese Arbeit sollte die phänotypischen Effekte der Mutationen validieren, neue Patienten identifizieren und diese neue monogenetische Form akuten Leberversagens charakterisieren. NBAS Mutationen führen zu signifikant niedrigeren NBAS Protein Leveln sowie zu Temperatursensitivität von Patienten-Zelllinien. Mein Western Blot Protokoll dient nun zur Diagnosestellung bei NBAS Mutati...     »
WWW:
https://mediatum.ub.tum.de/?id=1368096
Date of submission:
07.08.2017
Oral examination:
28.09.2018
File size:
3980033 bytes
Pages:
117
Urn (citeable URL):
https://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:91-diss-20180928-1368096-1-1
Last change:
23.10.2018
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