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SCON—a Short Conditional intrON for conditional knockout with one-step zygote injection2022 Experimental & Molecular Medicine article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Szu-Hsien Sam Wu, Heetak Lee, Réka Szép-Bakonyi, Gabriele Colozza, Ayse Boese, Krista R. Gert, +10 more
8citations -
Molecular characterization of Cdh12-SCON conditional knockout mice reveals unexpected splicing changes2026 Transgenic Research article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Mayke A C Ten Hoor, Margot M. L. Linssen, Conny M. Brouwers, Jill W. C. Claassens, Jaap Mulder, Peter Hohenstein
0citations -
Smad4 and TGF-β1 dependent gene expression biomarkers in conditional intestinal adenoma, organoids and colorectal cancer2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology TGF-β signaling in diseases Open access
Mirvat Surakhy, Emma J. Carter, Jennifer Hughes, Claudia Bühnemann, Sabina Sanegre, Hans M. Morreau, +3 more
0citations -
Smad4 and TGFβ1 dependent gene expression signatures in conditional intestinal adenoma, organoids and colorectal cancer2025 Scientific Reports article Biochemistry, Genetics and Molecular Biology TGF-β signaling in diseases Open access
Mirvat Surakhy, David Barnes, Emma J. Carter, Jennifer Hughes, Claudia Bühnemann, Sabina Sanegre, +4 more
2citations -
Establishment and Characterization of the Murine Liver Tumor Cell Line ΔCN60 with Conditional Caspase-8 and IKKγ/NEMO Inactivation and a Hepatocyte-Biliary Progenitor-like Phenotype2026 Cells article Biochemistry, Genetics and Molecular Biology Cell death mechanisms and regulation Open access
Alejandro Cornejo Müller, Thomas Liehr, Prahlad Balakrishnan, Stefanie Kankel, Eva Miriam Buhl, Diandra T. Keller, +4 more
0citations -
PiS and PiS-plus alleles. The importance of phasing gene variants in Alpha-1 Antitrypsin Deficiency2020 conference-abstract Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms
Nerea Matamala, Gema Gómez‐Mariano, José Antonio Pérez Pérez, Beatriz Baladrón, María Torres‐Durán, Francisco Javier Michel, +7 more
0citations -
Induction of senescence upon loss of the Ash2l core subunit of H3K4 methyltransferase complexes2022 Nucleic Acids Research article Biochemistry, Genetics and Molecular Biology Genomics and Chromatin Dynamics Open access
Agnieszka Bochyńska, Alexander T. Stenzel, Roksaneh Sayadi-Boroujeni, Chao‐Chung Kuo, Mirna Barsoum, Weili Liang, +4 more
16citations -
POS0253 DIFFERENCES IN THE EFFECT OF C4A and C4B COPY NUMBERS ON SSc SEROLOGICAL AND CLINICAL SUBTYPES2025 Annals of the Rheumatic Diseases article Medicine Systemic Sclerosis and Related Diseases Open access
Joaquín Martínez‐López, Carlos Rangel‐Peláez, Inmaculada Rodriguez‐Martin, Alfredo Guillén del Castillo, Carmen Pilar Simeón‐Aznar, José Luís Callejas-Rubio, +14 more
0citations -
A decision-making framework to maximise the evolutionary potential of populations - Genetic and genomic insights from the common midwife toad (Alytes obstetricans) at its range limits2024 Heredity article Biochemistry, Genetics and Molecular Biology Genetic diversity and population structure Open access
Christopher D. Barratt, Kathleen Preißler, Pauline Rosina Jennert, Falk Eckhardt, Mirjam N. Nadjafzadeh, Sebastian Steinfartz
4citations -
A novel knockout mouse model to assess the impact of one-copy loss of Hnrnpk in CD4 + T cells in chronically inflamed skin as a prelude to CTCL2025 Scientific Reports article Medicine Cutaneous lymphoproliferative disorders research Open access
Yixin Luo, Maarten H. Vermeer, Margot M. L. Linssen, Fenna J. de Bie, Marloe Pijnacker-Verspuij, Conny M. Brouwers, +4 more
0citations -
The role of the poor metabolizer genotype CYP2D6 and CYP1A2 phenotype in the pharmacokinetics of duloxetine and venlafaxine—A case report2020 Basic & Clinical Pharmacology & Toxicology article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism
Isabel Scharrer, Daniele Nolan, Markus R. Baumgartner, Michael Paulzen, Georgios Schoretsanitis, Franziskos Xepapadakos
6citations -
New cis -Acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency2020 American Journal of Respiratory Cell and Molecular Biology article Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access
Nerea Matamala, Gema Gómez‐Mariano, José Antonio Pérez Pérez, Beatriz Baladrón, María Torres‐Durán, Francisco Javier Michel, +7 more
7citations -
False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance2021 Scientific Reports article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Jonas M. den Heijer, Arnoud Schmitz, Peter T. Lansbury, Valerie Cullen, Dana C. Hilt, Vincenzo Bonifati, +1 more
6citations -
Imbalanced expression for predicted high-impact, autosomal-dominant variants in a cohort of 3,818 healthy samples2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Niek de Klein, Freerk van Dijk, Patrick Deelen, Carlos G. Urzúa-Traslaviña, Annique Claringbould, Urmo Võsa, +6 more
3citations -
Viral and tumor immunity is enhanced in mice expressing the pro-autoimmune allele of tyrosine phosphatase Ptpn222021 The Journal of Immunology conference-abstract Biochemistry, Genetics and Molecular Biology Protein Tyrosine Phosphatases
Robin C. Orozco, Kristi Marquardt, Kerri A. Mowen, Isaraphorn Pratumchai, John Ross Teijaro, Linda A. Sherman
0citations -
The Pro-autoimmune allele of tyrosine phosphatase PTPN22 enhances anti-viral and anti-tumor immunity2020 The Journal of Immunology conference-abstract Biochemistry, Genetics and Molecular Biology Protein Tyrosine Phosphatases
Robin C. Orozco, Kristi Marquardt, Kerri A. Mowen, Isaraphorn Pratumchai, John Ross Teijaro, Linda A. Sherman
0citations