Zobrazeno 1 - 10 of 27 pro vyhledávání: '"Marc Trimborn"'
1
Akademický článek
A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cells.
Autor: Ioannis Gavvovidis, Isabell Rost, Marc Trimborn, Frank J Kaiser, Josephine Purps, Constanze Wiek, Helmut Hanenberg, Heidemarie Neitzel, Detlev Schindler
Publikováno v: PLoS ONE, Vol 7, Iss 8, p e40387 (2012)
Biallelic mutations in MCPH1 cause primary microcephaly (MCPH) with the cellular phenotype of defective chromosome condensation. MCPH1 encodes a multifunctional protein that notably is involved in brain development, regulation of chromosome condensat
Externí odkaz: https://doaj.org/article/2272c1b9132c4f0c8323584a0b883d3a
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2
Akademický článek
Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function.
Autor: Marc Trimborn, Mahdi Ghani, Diego J Walther, Monika Dopatka, Véronique Dutrannoy, Andreas Busche, Franziska Meyer, Stefanie Nowak, Jean Nowak, Claus Zabel, Joachim Klose, Veronica Esquitino, Masoud Garshasbi, Andreas W Kuss, Hans-Hilger Ropers, Susanne Mueller, Charlotte Poehlmann, Ioannis Gavvovidis, Detlev Schindler, Karl Sperling, Heidemarie Neitzel
Publikováno v: PLoS ONE, Vol 5, Iss 2, p e9242 (2010)
Mutations in the human gene MCPH1 cause primary microcephaly associated with a unique cellular phenotype with premature chromosome condensation (PCC) in early G2 phase and delayed decondensation post-mitosis (PCC syndrome). The gene encodes the BRCT-
Externí odkaz: https://doaj.org/article/770b07381bfb4877a4b16fab25d1cd22
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3
MCPH1, mutated in primary microcephaly, is required for efficient chromosome alignment during mitosis
Autor: María Arroyo, Duncan J. Clarke, Juan Alberto Marchal, Ana Cañuelo, Ryoko Kuriyama, Antonio Sánchez, Daniel Keifenheim, Marc Trimborn
Publikováno v: Scientific Reports, Vol 7, Iss 1, Pp 1-12 (2017)
Scientific Reports
MCPH1 gene, mutated in primary microcephaly, regulates cell progression into mitosis. While this role has been extensively investigated in the context of DNA damage, its function during unperturbed cell cycles has been given less attention. Here we h
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a193d64624e4adb27f866cf90dbf326
http://link.springer.com/article/10.1038/s41598-017-12793-7
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4
Inter-laboratory study on standardized MPS libraries: evaluation of performance, concordance, and sensitivity using mixtures and degraded DNA
Autor: Sascha Willuweit, Thorsten Hadrys, Lutz Roewer, Steffi Bredemeyer, Titia Sijen, Natalie E.C. Weiler, Sabrina Achtruth, Marc Trimborn, Ingo Bastisch, Christian Sell, F.-X. Laurent, Petra Müller, Walther Parson, Johannes Hedman, Maja Sidstedt
Publikováno v: International Journal of Legal Medicine
We present results from an inter-laboratory massively parallel sequencing (MPS) study in the framework of the SeqForSTRs project to evaluate forensically relevant parameters, such as performance, concordance, and sensitivity, using a standardized seq
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06f9734d9e0746dcca19832bfaba1d0b
https://pubmed.ncbi.nlm.nih.gov/31745634
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5
Elektronická kniha
Humangenetische Grundlagen für Gynäkologen : Fachgebundene genetische Beratung im Überblick
Autor: Rolf-Dieter Wegner, Marc Trimborn, Markus Stumm, Peter Wieacker
Dieses Fachbuch vermittelt anschaulich und praxisnah das für die interdisziplinäre Patientenbetreuung durch Gynäkologen und Humangenetiker in der Reproduktionsmedizin, der Pränataldiagnostik und der Tumordiagnostik benötigte Wissen. In den einze
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7
7. Molekulargenetische Diagnostik
Autor: Claus-Eric Ott, Marc Trimborn
Publikováno v: Humangenetische Grundlagen für Gynäkologen ISBN: 9783110279627
Humangenetische Grundlagen für Gynäkologen: Fachgebundene genetische Beratung im Überblick
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e9dbc7d28c69bdff6bf3053ea5f6f4f7
https://doi.org/10.1515/9783110279627-010
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8
5. Zytogenetische Postnataldiagnostik
Autor: Marc Trimborn
Publikováno v: Humangenetische Grundlagen für Gynäkologen ISBN: 9783110279627
Humangenetische Grundlagen für Gynäkologen: Fachgebundene genetische Beratung im Überblick
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::221778e5153e9510c221d62a05a9f310
https://doi.org/10.1515/9783110279627-008
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10
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4
Autor: Denise Horn, Pablo Villavicencio-Lorini, Randi Koll, Marc Trimborn, Stefan Mundlos, Eva Klopocki
Publikováno v: European journal og human genetics : EJHG ; the official journal of the European Society of Human Genetics
Deletions of the chromosomal region 2q37 cause brachydactyly-mental retardation syndrome (BDMR), also known as Albright hereditary osteodystrophy-like syndrome. Recently, histone deacetylase 4 (HDAC4) haploinsufficiency has been postulated to be the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::768b5e3cb905627a8997c24034789ded
https://doi.org/10.1038/ejhg.2012.240
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