Etges A, Hellmig N, Walenda G, Haddad BG, Machtens JP, Morosan T, Rump LC, Scholl UI. A Novel Homozygous KLHL3 Mutation as a Cause of Autosomal Recessive Pseudohypoaldosteronism Type II Diagnosed Late in Life. Nephron (2022).
Harder I, Münchhalfen M, Andrieux G, Börries M, Grimbacher B, …, Jellusova J, Warnatz K, Keller B. Dysregulated PI3K Signaling in B Cells of CVID Patients. Cells (2022).
Flum M, Dicks S, Teng YH, Schrempp M, Nyström A, Börries M, Hecht A. Canonical TGFβ signaling induces collective invasion in colorectal carcinogenesis through a Snail1- and Zeb1-independent partial EMT. Oncogene (2022).
Fayçal CA, Oszwald A, Feilen T, Cosenza-Contreras M, Schilling O, …, Rees AJ, Orend G, Kain R. An adapted passive model of anti-MPO dependent crescentic glomerulonephritis reveals matrix dysregulation and is amenable to modulation by CXCR4 inhibition. Matrix Biol (2022).
Boeckhaus J, Hoefele J, Riedhammer KM, Nagel M, Beck BB, …, Bergmann C, …, Troesch V, Stock J, Gross O. Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort study. Nephrol Dial Transplant (2022).
Treppner M, Binder H, Hess M. Interpretable generative deep learning: an illustration with single cell gene expression data. Hum Genet (2022).
Kind F, Fassbender TF, Andrieux G, Börries M, Meyer PT, Ruf J. Early PSA Change after [177Lu] PSMA-617 Radioligand Therapy as a Predicator of Biochemical Response and Overall Survival. Cancers (Basel) (2021).
Corrales E, Levit-Zerdoun E, Metzger P, Kowar S, Ku M, Brummer T, Börries M. Dynamic transcriptome analysis reveals signatures of paradoxical effect of vemurafenib on human dermal fibroblasts. Cell Commun Signal (2021).
Spohr C, Poggio T, Andrieux G, Schönberger K, Cabezas-Wallscheid N, Börries M, Halbach S, Illert AL, Brummer T. Gab2 deficiency prevents Flt3-ITD driven acute myeloid leukemia in vivo. Leukemia (2022).
Schlosser P, Tin A, Matias-Garcia PR, Thio CHL, Joehanes R,, …, Susztak K, Köttgen A, Teumer A. Meta-analyses identify DNA methylation associated with kidney function and damage. Nat Commun (2021).
Tin A, Schlosser P, Matias-Garcia PR, Thio CHL, Joehanes R, …, Susztak K, Teumer A, Köttgen A. Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus. Nat Commun (2021).
Mohamed M, Tellez J, Bergmann C, Gale DP, Sayer JA, Olinger E. Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants. Ann Hum Genet (2022).
Frey P, Devisme A, Rose K, Schrempp M, Freihen V, Andrieux G, Börries M, Hecht A. SMAD4 mutations do not preclude epithelial-mesenchymal transition in colorectal cancer. Oncogene (2022).
Fahrner M, Bronsert P, Fichtner-Feigl S, Jud A, Schilling O. Proteome biology of primary colorectal carcinoma and corresponding liver metastases. Neoplasia (2021).
Yu Z, Jin J, Tin A, Köttgen A, Yu B, …, Chatterjee N, Grams ME, Coresh J. Polygenic Risk Scores for Kidney Function and Their Associations with Circulating Proteome, and Incident Kidney Diseases. J Am Soc Nephrol (2021).
Sharma R, Sahoo SS, Honda M, Granger SL, Goodings C, …, Börries M, …, Erlacher M, Coulon S, Wlodarski MW. Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue. Blood (2022).