Lehrstuhl für Humangenetik

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation (2018) Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktas T, Duffourd Y, Rumpf T, et al. Journal article Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria (2018) Hoyer J, Vasileiou G, Uebe S, Wunderle M, Kraus C, Fasching P, Thiel C, et al. Journal article Chromatin-Remodeling Factor SPOC1 Acts as a Cellular Restriction Factor against Human Cytomegalovirus by Repressing the Major Immediate Early Promoter (2018) Reichel A, Stilp AC, Scherer M, Reuter N, Lukassen S, Kasmapour B, Schreiner S, et al. Journal article Tyrosinase is a novel endogenous regulator of developmental and inflammatory lymphangiogenesis (2018) Büttner C, Clahsen T, Regenfuss B, Dreisow ML, Steiber Z, Bock F, Reis A, Cursiefen C Journal article Tyrosinase downregulates Fibromodulin- induced lymphangiogenesis (2018) Clahsen T, Regenfuss B, Büttner C, Gabriel T, Bock F, Reis A, Cursiefen C Conference contribution Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care (2018) Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, et al. Journal article RNA-seq and pathway analysis of ocular tissues in PEX patients and healthy subjects (2018) Pasutto F, Zenkel M, Berner D, Uebe S, Ekici AB, Kruse F, Reis A, Schlötzer-Schrehardt U Conference contribution Pseudoexfoliation associated protective variant, rs7173049, reveals a novel regulatory region downstream of LOXL1 (2018) Berner D, Pasutto F, Hoja U, Zenkel M, Ozaki M, Williams S, Ramsay M, et al. Conference contribution Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants (2018) Johnston JJ, Van Der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, et al. Journal article Impact of Swiprosin-1/Efhd2 on Adult Hippocampal Neurogenesis (2018) Regensburger M, Prots I, Reimer D, Brachs S, Loskarn S, Lie DC, Mielenz D, Winner B Journal article