Investigation of the Wilson gene ATP7B transcriptional start site and the effect of core promoter alterations von Höflich, Clemens, Brieger, Angela, Zeuzem, Stefan, Plotz, Guido

Volltext

Key role of phosphorylation sites in ATPase domain and Linker region of MLH1 for DNA binding and functionality of MutLα von Firnau, May-Britt, Plotz, Guido, Zeuzem, Stefan, Brieger, Angela

Volltext

Downregulation of SPTAN1 is related to MLH1 deficiency and metastasis in colorectal cancer von Ackermann, Anne, Schrecker, Christopher, Bon, Dimitra, Friedrichs, Nicolaus, Bankov, Katrin, Wild, Peter, Plotz, Guido, Zeuzem, Stefan, Herrmann, Eva, Hansmann, Martin-Leo, Brieger, Angela

Volltext

Alternative AKT2 splicing produces protein lacking the hydrophobic motif regulatory region von Plotz, Guido, Lopez-Garcia, Laura A, Brieger, Angela, Zeuzem, Stefan, Biondi, Ricardo M

Volltext

Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer von Marwa Mahdouani, Slim Ben Ahmed, Fahmi Hmila, Henda Rais, Rihab Ben Sghaier, Hanene Saad, Mariem Ben Said, Saber Masmoudi, Dorra Hmida, Angela Brieger, Stefan Zeuzem, Ali Saad, Moez Gribaa, Guido Plotz

Volltext

Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer von Mahdouani, Marwa, Ben Ahmed, Slim, Hmila, Fahmi, Rais, Henda, Ben Sghaier, Rihab, Saad, Hanene, Ben Said, Mariem, Masmoudi, Saber, Hmida, Dorra, Brieger, Angela, Zeuzem, Stefan, Saad, Ali, Gribaa, Moez, Plotz, Guido

Volltext

Promoter methylation of MLH1, PMS2, MSH2 and p16 is a phenomenon of advanced-stage HCCs von Hinrichsen, Inga, Kemp, Matthias, Peveling-Oberhag, Jan, Passmann, Sandra, Plotz, Guido, Zeuzem, Stefan, Brieger, Angela

Volltext

C-terminal fluorescent labeling impairs functionality of DNA mismatch repair proteins von Brieger, Angela, Plotz, Guido, Hinrichsen, Inga, Passmann, Sandra, Adam, Ronja, Zeuzem, Stefan

Volltext

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes von Henn, Jonas, Spier, Isabel, Adam, Ronja S, Holzapfel, Stefanie, Uhlhaas, Siegfried, Kayser, Katrin, Plotz, Guido, Peters, Sophia, Aretz, Stefan

Volltext

Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system von Trojan, Joerg, Zeuzem, Stefan, Randolph, Ann, Hemmerle, Christine, Brieger, Angela, Raedle, Jochen, Plotz, Guido, Jiricny, Josef, Marra, Giancarlo

Volltext

BRAF mutations in colorectal carcinoma suggest two entities of microsatellite‐unstable tumors von Lubomierski, Nikolaus, Plotz, Guido, Wormek, Marc, Engels, Knut, Kriener, Susanne, Trojan, Jorg, Jungling, Bernd, Zeuzem, Stefan, Raedle, Jochen

Volltext

Inhibition of the Equilibrative Nucleoside Transporter 1 and Activation of A2A Adenosine Receptors by 8-(4-Chlorophenylthio)-modified cAMP Analogs and Their Hydrolytic Products von Waidmann, Oliver, Pleli, Thomas, Dvorak, Karel, Baehr, Christina, Mondorf, Ulrich, Plotz, Guido, Biondi, Ricardo M., Zeuzem, Stefan, Piiper, Albrecht

Volltext

Expression and secretion of the pro‑inflammatory cytokine IL‑8 is increased in colorectal cancer cells following the knockdown of non‑erythroid spectrin αII von Ackermann, Anne, Lafferton, Barbara, Plotz, Guido, Zeuzem, Stefan, Brieger, Angela

Volltext

An Interstitial Deletion at 3p21.3 Results in the Genetic Fusion of MLH1 and ITGA9 in a Lynch Syndrome Family von MEYER, Claus, BRIEGER, Angela, PLOTZ, Guido, WEBER, Nicole, PASSMANN, Sandra, DINGERMANN, Theo, ZEUZEM, Stefan, TROJAN, Joerg, MARSCHALEK, Rolf

Volltext

Expression and secretion of the pro-inflammatory cytokine IL-8 is increased in colorectal cancer cells following the knockdown of non-erythroid spectrin [alpha]ll von Ackermann, Anne, Lafferton, Barbara, Plotz, Guido, Zeuzem, Stefan, Brieger, Angela

Volltext

A conserved motif in the disordered linker of human MLH1 is vital for DNA mismatch repair and its function is diminished by a cancer family mutation von Wolf, Karla, Kosinski, Jan, Gibson, Toby J, Wesch, Nicole, Dötsch, Volker, Genuardi, Maurizio, Cordisco, Emanuela Lucci, Zeuzem, Stefan, Brieger, Angela, Plotz, Guido

Volltext

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas von Spier, Isabel, Holzapfel, Stefanie, Altmüller, Janine, Zhao, Bixiao, Horpaopan, Sukanya, Vogt, Stefanie, Chen, Sophia, Morak, Monika, Raeder, Susanne, Kayser, Katrin, Stienen, Dietlinde, Adam, Ronja, Nürnberg, Peter, Plotz, Guido, Holinski‐Feder, Elke, Lifton, Richard P., Thiele, Holger, Hoffmann, Per, Steinke, Verena, Aretz, Stefan

Volltext

Analysis of MUTYH alternative transcript expression, promoter function, and the effect of human genetic variants von Köger, Nicole, Brieger, Angela, Hinrichsen, Inga M., Zeuzem, Stefan, Plotz, Guido

Volltext

Functional analysis of MMR gene VUS from potential Lynch syndrome patients von Mahdouani, Marwa, Zhuri, Drenushe, Sezginer Guler, Hazal, Hmida, Dorra, Sana, Mokni, Azaza, Mohamed, Ben Said, Mariem, Masmoudi, Saber, Hmila, Fahmi, Youssef, Sabri, Ben Sghaier, Rihab, Brieger, Angela, Zeuzem, Stefan, Saad, Ali, Gurkan, Hakan, Yalcintepe, Sinem, Gribaa, Moez, Plotz, Guido

Volltext

Expression Defect Size among Unclassified MLH1 Variants Determines Pathogenicity in Lynch Syndrome Diagnosis von HINRICHSEN, Inga, BRIEGER, Angela, TROJAN, Jörg, ZEUZEM, Stefan, NILBERT, Mef, PLOTZ, Guido

Volltext