Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Britta Wieland"'
Autor:
Barbara Pietrucha, Edyta Heropolitańska-Pliszka, Robert Geffers, Julia Enßen, Britta Wieland, Natalia Valerijevna Bogdanova, Thilo Dörk
Publikováno v:
Frontiers in Immunology, Vol 8 (2017)
Germline mutations in the RING finger protein gene RNF168 have been identified in a combined immunodeficiency disorder called RIDDLE syndrome. Since only two patients have been described with somewhat different phenotypes, there is need to identify f
Externí odkaz:
https://doaj.org/article/46da44d39ed2478495113d5eb9ee531a
Autor:
Simone Schröder, Britta Wieland, Janine Altmüller, Thilo Dörk, Eugen Boltshauser, Knut Brockmann, Gökhan Yigit, Andreas Ohlenbusch
Publikováno v:
American Journal of Medical Genetics Part A. 182:2971-2975
Mild clinical phenotypes of ataxia-telangiectasia (variant A-T) are associated with biallelic ATM variants resulting in residual function of the ATM kinase. At least one regulatory, missense, or leaky splice site mutation resulting in expression of A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8bf2573589974bb938268891c4893a53
https://doi.org/10.1002/ajmg.a.61870
https://doi.org/10.1002/ajmg.a.61870
Autor:
Simone Schröder, Janine Altmüller, Britta Wieland, Eugen Boltshauser, Thilo Dörk, Andreas Ohlenbusch, Gökhan Yigit, Knut Brockmann
Publikováno v:
Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::71e9fa91eb19933728e859bfb8a3881f
https://doi.org/10.1055/s-0041-1739584
https://doi.org/10.1055/s-0041-1739584
Publikováno v:
The FASEB Journal. 25:3849-3860
Ataxia telangiectasia mutated (ATM) has multiple functions in homologous recombination (HR) and nonhomologous end joining (NHEJ), which lead to conflicting data regarding its DNA double-strand break-repair (DSBR) functions in previous studies. To exp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6925f7931c705e4d01cbb36806cd0302
https://doi.org/10.1096/fj.11-185546
https://doi.org/10.1096/fj.11-185546
Publikováno v:
FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 28(3)
Faithful chromosome segregation is required for preserving genomic integrity. Failure of this process may entail chromatin bridges preventing normal cytokinesis. To test whether RAD50, a protein normally involved in DNA double-strand break repair, is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb221d1fa7696ab93ed0df95e693f315
https://pubmed.ncbi.nlm.nih.gov/24344331
https://pubmed.ncbi.nlm.nih.gov/24344331
Autor:
Duran, Juan M, Campelo, Felix, van Galen, Josse, Sachsenheimer, Timo, Sot, Jesus, Egorov, Mikhail V, Rentero, Carles, Enrich, Carlos, Polishchuk, Roman S, Goni, Felix M, Bruegger, Britta, Wieland, Felix, Malhotra, Vivek
Publikováno v:
Embo Journal.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=erc_________::08960c2d5ce6a7b9ce3794976f4e0376
Autor:
Magtouf Gatei, Raymonda Varon, Britta Wieland, Reinhard Kalb, Detlev Schindler, Thilo Dörk, Markus Stumm, Martin F. Lavin, Yaniv Lerenthal, Regina Waltes, Alexandra Sobeck, Amanda W. Kijas
The MRE11/RAD50/NBN (MRN) complex plays a key role in recognizing and signaling DNA double-strand breaks (DSBs). Hypomorphic mutations in NBN (previously known as NBS1) and MRE11A give rise to the autosomal-recessive diseases Nijmegen breakage syndro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc277c6a49139ce520ac195d028e9a8a
https://europepmc.org/articles/PMC2681000/
https://europepmc.org/articles/PMC2681000/
Publikováno v:
Annals of Oncology. 26:iii31
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::258f12e2d06ebba5a42765756593d228
https://doi.org/10.1093/annonc/mdv121.07
https://doi.org/10.1093/annonc/mdv121.07
Autor:
Andrea König, Martin H. Falk, Karl-Walter Sykora, A. Reiter, Britta Wieland, Detlef Frick, Andreas Beilken, Karl Welte, Jörg Tomeczkowski
Publikováno v:
Blood. 86(4)
The cytokine stem cell factor (SCF) synergizes with interleukin-7 (IL- 7) to enhance the proliferation of pre-B cells. To examine the role of SCF and its receptor, c-kit, in the pathogenesis of pediatric Burkitt's lymphomas (BL), we investigated the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f981686a043a9f5c2ac5ea5632136961
https://pubmed.ncbi.nlm.nih.gov/7543307
https://pubmed.ncbi.nlm.nih.gov/7543307
Autor:
Alfred Reiter, Elif Yakisan, Karl-Walter Sykora, Karl Welte, Britta Wieland, Jörg Tomeczkowski
Publikováno v:
British journal of haematology. 89(4)
The expression of the granulocyte colony-stimulating factor (G-CSF) receptor in childhood Burkitt's lymphoma (BL) cells, and the mitogenic effect of G-CSF on these cells, was studied in a panel of 13 Epstein-Barr virus (EBV) positive and negative BL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e236d675164537eec1c6ffc328f1ebf1
https://pubmed.ncbi.nlm.nih.gov/7539624
https://pubmed.ncbi.nlm.nih.gov/7539624