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Inhibition of the glucocorticoid receptor attenuates proteinuric kidney diseases in multiple species2023 Nephrology Dialysis Transplantation article Medicine Renal Diseases and Glomerulopathies Open access
Eleni Stamellou, Shipra Agrawal, Florian Siegerist, Marc Buse, Christoph Kuppe, Tim Lange, +10 more
5citations -
Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis2023 Scientific Reports article Medicine Biomedical Research and Pathophysiology Open access cited by 3 patents
Tjessa Bondue, Sante Princiero Berlingerio, Florian Siegerist, Elena Sendino Garví, Maximilian Schindler, Hans J. Baelde, +10 more
12citations -
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity2023 Genome Medicine article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Sheng‐Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha Saad Zaki, Huda Shujaa Aldeen, +31 more
14citations -
Double-modified, thio and methylene ATP analogue facilitates wound healing in vitro and in vivo2024 Scientific Reports article Biochemistry, Genetics and Molecular Biology Adenosine and Purinergic Signaling Open access
Róża Pawłowska, Ewa Radzikowska‐Cieciura, Sepideh Jafari, Julia Fastyn, Eliza Korkus, Edyta Gendaszewska‐Darmach, +3 more
6citations -
Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement2026 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Valentina Galassi Deforie, Reza Maroofian, Irem Karagoz, Annie Godwin, Ebtehal Al Sheikh, Gaia Gestri, +60 more
3citations -
Reactivation of BMP signaling by suboptimal concentrations of MEK inhibitor and FK506 reduces organ-specific breast cancer metastasis2020 Cancer Letters article Biochemistry, Genetics and Molecular Biology TGF-β signaling in diseases Open access
Jiang Ren, Yanhong Wang, Thomas M. B. Ware, Josephine Iaria, Peter ten Dijke, Hong‐Jian Zhu
41citations -
Induced pluripotent stem cell-derived vascular networks to screen nano–bio interactions2021 Nanoscale Horizons article Materials Science Nanoparticles: synthesis and applications Open access
Luı́s M.B.B. Estronca, Vítor Francisco, Patrícia R. Pitrez, Inês Agapito Honório, Lara Carvalho, Helena Vazão, +7 more
12citations -
Single-cell RNA sequencing of human fetal epicardium reveals novel markers and regulators of EMT2020 European Heart Journal article Biochemistry, Genetics and Molecular Biology Congenital heart defects research Open access
T J Streef, Tessa van Herwaarden, Anke M. Smits, Marie‐José Goumans
0citations -
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder2025 The American Journal of Human Genetics article Medicine Fetal and Pediatric Neurological Disorders Open access
Hammad Yousaf, Maayke A. de Koning, Kamal Khan, Kelly L. Gilmore, Mariëtte J.V. Hoffer, Georgios Kellaris, +20 more
0citations -
ST3GAL5‐catalyzed gangliosides inhibit TGF‐β‐induced epithelial‐mesenchymal transition via TβRI degradation2022 The EMBO Journal article Biochemistry, Genetics and Molecular Biology TGF-β signaling in diseases Open access
Jing Zhang, Gerard van der Zon, Jin Ma, Hailiang Mei, Birol Cabukusta, Cedrick Agaser, +4 more
39citations -
Pannexin‐1 mediates fluid shear stress‐sensitive purinergic signaling and cyst growth in polycystic kidney disease2020 The FASEB Journal article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Eric H. J. Verschuren, Juan Pablo Rigalli, Charlotte Castenmiller, Meike U. Rohrbach, René J.M. Bindels, Dorien J.M. Peters, +2 more
25citations -
RNF12 is regulated by AKT phosphorylation and promotes TGF-β driven breast cancer metastasis2022 Cell Death and Disease article Biochemistry, Genetics and Molecular Biology TGF-β signaling in diseases Open access
Yongsheng Huang, Sijia Liu, Mengjie Shan, Sophie C. Hagenaars, Wilma E. Mesker, Danielle Cohen, +9 more
20citations -
Combining Different In Vitro Bioassays to Evaluate Genotoxicity of Water-Accommodated Fractions from Petroleum Products2020 Toxics article Biochemistry, Genetics and Molecular Biology Carcinogens and Genotoxicity Assessment Open access
Sarah Johann, Mira Goßen, Peter Behnisch, Henner Hollert, Thomas‐Benjamin Seiler
18citations -
Tokay gecko tail regeneration involves temporally collinear expression of HOXC genes and early expression of satellite cell markers2025 BMC Biology article Biochemistry, Genetics and Molecular Biology Developmental Biology and Gene Regulation Open access
Luthfi Nurhidayat, Vladimı́r Beneš, Sira Blom, Inês Gomes, Nisrina Firdausi, M. Bakker, +2 more
12citations -
A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia2026 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Ozge Aksel Kilicarslan, Andrea Gangfuß, Andreas Hentschel, Heike Kölbel, David Muhmann, Ana Töpf, +10 more
1citations -
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability2025 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Ariane Kröll‐Hermi, Corinne Stoetzel, Christelle Etard, Levon Halabelian, Élise Schaefer, Sophie Scheidecker, +80 more
1citations -
LacR and TrxB are key virulence factors involved in pneumococcal meningitis as identified by a genome-wide association study2026 Communications Biology article Immunology and Microbiology Bacterial Infections and Vaccines Open access
Rutger Koning, Kin Ki Jim, Philip H. C. Kremer, Hsueh-Chien Raymond Cheng, Valery Jaspers, Bart Ferwerda, +9 more
0citations