Lehrstuhl für Humangenetik

Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus (2015) Hauser MA, Aboobakar IF, Liu Y, Miura S, Whigham BT, Challa P, Wheeler J, et al. Journal article A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome (2015) Schwerd T, Khaled AV, Schürmann M, Chen H, Händel N, Reis A, Gillessen-Kaesbach G, et al. Journal article A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome (2015) Aung T, Ozaki M, Mizoguchi T, Allingham RR, Li Z, Haripriya A, Nakano S, et al. Journal article De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum (2015) Kuechler A, Willemsen MH, Albrecht B, Bacino CA, Bartholomew DW, Van Bokhoven H, Van Den Boogaard MJH, et al. Journal article Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk (2015) Painter JN, O'Mara TA, Batra J, Cheng T, Lose FA, Dennis J, Michailidou K, et al. Journal article Chromatin-Remodeling-Factor ARID1B Represses Wnt/?-Catenin Signaling (2015) Vasileiou G, Ekici AB, Urebe S, Zweier C, Hoyer J, Engels H, Behrens J, et al. Journal article IL-7 Abrogates the Immunosuppressive Function of Human Double-Negative T Cells by Activating Akt/mTOR Signaling (2015) Allgäuer A, Schreiner E, Ferrazzi F, Ekici AB, Gerbitz A, Mackensen A, Voelkl S Journal article Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis (2015) Bowes J, Budu-Aggrey A, Hüffmeier U, Uebe S, Steel K, Hebert HL, Wallace C, et al. Journal article Recurrent null mutation in SPG20 leads to Troyer syndrome (2015) Tawamie H, Wohlleber E, Uebe S, Schmael C, Nöthen MM, Abou Jamra R Journal article An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes (2015) Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TMT, Racher H, Phelps IG, et al. Journal article