Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Gotthold, Barbi"'
Autor:
Julia Higelin, Alberto Catanese, Lena Luisa Semelink-Sedlacek, Sertap Oeztuerk, Anne-Kathrin Lutz, Julia Bausinger, Gotthold Barbi, Günter Speit, Peter M. Andersen, Albert C. Ludolph, Maria Demestre, Tobias M. Boeckers
Publikováno v:
Stem Cell Research, Vol 30, Iss , Pp 150-162 (2018)
Mutations in genes coding for proteins involved in DNA damage response (DDR) and repair, such as C9orf72 and FUS (Fused in Sarcoma), are associated with neurodegenerative diseases and lead to amyotrophic lateral sclerosis (ALS). Heterozygous loss-of-
Externí odkaz:
https://doaj.org/article/be463ac0cbd04cb1b509b67287550dc4
Autor:
Susanne Bens, Manuel Luedeke, Tanja Richter, Melanie Graf, Julia Kolarova, Gotthold Barbi, Krisztian Lato, Thomas F. Barth, Reiner Siebert
Publikováno v:
Clinical Epigenetics, Vol 9, Iss 1, Pp 1-9 (2017)
Abstract Background Uniparental disomy of certain chromosomes are associated with a group of well-known genetic syndromes referred to as imprinting disorders. However, the extreme form of uniparental disomy affecting the whole genome is usually not c
Externí odkaz:
https://doaj.org/article/fea17602ea834af980013c8a43f06d89
Autor:
Axel Freischmidt, Albert C. Ludolph, Alberto Catanese, Tobias M. Boeckers, Jochen H. Weishaupt, Maria Demestre, Medhanie A. Mulaw, Julia Higelin, Gotthold Barbi, Francesco Roselli, Florian olde Heuvel
Publikováno v:
Autophagy. 15(10)
Mutations in the TBK1 (TANK binding kinase 1) gene are causally linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TBK1 phosphorylates the cargo receptors OPTN and SQSTM1 regulating a critical step in macroautophagy/auto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40c3d16e637d80d8107b51cebe950fe8
https://pubmed.ncbi.nlm.nih.gov/30939964
https://pubmed.ncbi.nlm.nih.gov/30939964
Autor:
Melanie Graf, Krisztian Lato, Manuel Luedeke, Thomas F. E. Barth, Julia Kolarova, Gotthold Barbi, Reiner Siebert, Susanne Bens, Tanja Richter
Publikováno v:
Clinical Epigenetics
Clinical Epigenetics, Vol 9, Iss 1, Pp 1-9 (2017)
Clinical Epigenetics, Vol 9, Iss 1, Pp 1-9 (2017)
Background Uniparental disomy of certain chromosomes are associated with a group of well-known genetic syndromes referred to as imprinting disorders. However, the extreme form of uniparental disomy affecting the whole genome is usually not compatible
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18056ffbe7fbf106b348ce3c3784a379
https://doi.org/10.1186/s13148-017-0410-y
https://doi.org/10.1186/s13148-017-0410-y
Autor:
Peter Nürnberg, Swagata Halder, Gudrun Nürnberg, Melanie Philipp, Katherine R. Smith, Janoš Terzić, Christian Kubisch, Martin D. Burkhalter, Paul J. Lockhart, Cora M. Aalfs, Davor Lessel, Melanie Bahlo, Richard J. Leventer, Raimundo Freire, Regina Fertig, Josef Högel, Judith Oehler, Bruno Vaz, Kay Hofmann, Amsha Nahid, Ivan Dikic, Janine Altmüller, Simon von Ameln, Gotthold Barbi, Fiona Norris, Kate Pope, Jaime Lopez-Mosqueda, Elisa Cabrera, Martin B. Delatycki, Joe C H Sim, Holger Thiele, Kristijan Ramadan, Marina Degoricija, George M. Martin, David J. Amor, Junko Oshima, Ivana Marinović-Terzić
Publikováno v:
Nature Genetics
Nature genetics, 46(11), 1239-1244. Nature Publishing Group
Nature genetics, 46(11), 1239-1244. Nature Publishing Group
Age-related degenerative and malignant diseases represent major challenges for health care systems. Elucidation of the molecular mechanisms underlying carcinogenesis and age-associated pathologies is thus of growing biomedical relevance. We identifie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::183e3e51581dfa50a916faeb03251147
https://doi.org/10.1038/ng.3103
https://doi.org/10.1038/ng.3103
Autor:
Moritz Klingenstein, Gotthold Barbi, Anne-Kathrin Huber, Anne-Kathrin Lutz, Albert C. Ludolph, Stefan Putz, Andreas Hermann, Annemarie Huebers, Christian Jacob, Maria Demestre, Julia Bausinger, Tobias M. Boeckers, Günter Speit, Jan Philipp Delling, Julia Higelin, Jochen H. Weishaupt, Stefan Liebau
Publikováno v:
Frontiers in cellular neuroscience 10, 159 (2016). doi:10.3389/fncel.2016.00290
Frontiers in Cellular Neuroscience
Frontiers in Cellular Neuroscience
Mutations within the FUS gene (Fused in Sarcoma) are known to cause Amyotrophic Lateral Sclerosis (ALS), a neurodegenerative disease affecting upper and lower motoneurons. The FUS gene codes for a multifunctional RNA/DNA-binding protein that is prima
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7379cbbb27a4ad97f92f4724512a883
Autor:
Litu Zhang, Zeynep Tümer, Niels Tommerup, Eske Bendsen, Nickolas Papadopoulos, Rikke S. Møller, Gotthold Barbi, Reinhard Ullmann, Lars Allan Larsen, Eva Rossier, Jian He, Kjeld Møllgård
Publikováno v:
European Journal of Human Genetics. 17:1010-1018
The chromosome break points of the t(8;21)(q21.3;q22.12) translocation associated with acute myeloid leukemia disrupt the RUNX1 gene (also known as AML1) and the RUNX1T1 gene (also known as CBFA2T3, MTG8 and ETO) and generate a RUNX1–RUNX1T1 fusion
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d0380eee2bd9ed496995f618dcbc2f5
https://doi.org/10.1038/ejhg.2008.269
https://doi.org/10.1038/ejhg.2008.269
Publikováno v:
Genomic Medicine. 1:65-73
We report on a patient with severe mental retardation, dysmorphic features as well as juvenile idiopathic arthritis. G-banding indicated two independent karyotypic anomalies in this patient: an interstitial deletion del(X)(p21p22.3) and a rearrangeme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15d1329ca15388b007edaee035768998
https://doi.org/10.1007/s11568-007-9008-3
https://doi.org/10.1007/s11568-007-9008-3
Autor:
A. Schulz, Klaus-Michael Debatin, P. Moeller, J.C. de Greef, Catharina Schuetz, S.M. van der Maarel, Dominique Smeets, W. Friedrich, Manfred Hoenig, Gotthold Barbi, Walther Vogel, Thomas F. E. Barth
Publikováno v:
American Journal of Medical Genetics. Part A, 143, 2052-7
American Journal of Medical Genetics. Part A, 143, 17, pp. 2052-7
American Journal of Medical Genetics. Part A, 143, 17, pp. 2052-7
Item does not contain fulltext We report on two sibs with ICF syndrome (immunodeficiency, centromeric heterochromatin instability, and facial anomalies) diagnosed in the elder brother based on the typical chromosomal abnormalities present in 56% of m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a6ad4413ce24711d42b083d59d48a80
https://doi.org/10.1002/ajmg.a.31885
https://doi.org/10.1002/ajmg.a.31885
Autor:
Denise Horn, Stefan Mundlos, Ricarda Flöttmann, Sean Nader, Malte Spielmann, Guntram Borck, Gotthold Barbi, Hildegard Kehrer-Sawatzki, Sylvie Marx, Rainer König
Publikováno v:
American Journal of Medical Genetics Part A
The femoral facial syndrome (FFS) is a rare congenital anomaly syndrome characterized by bilateral femoral hypoplasia and facial dysmorphism. The etiology of FFS is currently unknown but maternal/gestational diabetes has been proposed as a strong ris
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc80a4d62575d5e173889152e8eb1ae5
https://pubmed.ncbi.nlm.nih.gov/26822876
https://pubmed.ncbi.nlm.nih.gov/26822876