Institute of Human Genetics

FAM13A is associated with non-small cell lung cancer (NSCLC) progression and controls tumor cell proliferation and survival (2017) Eisenhut F, Heim L, Trump S, Mittler S, Sopel N, Andreev K, Ferrazzi F, et al. Journal article Posttranscriptional Regulation of LOXL1 Expression Via Alternative Splicing and Nonsense-Mediated mRNA Decay as an Adaptive Stress Response (2017) Berner D, Zenkel M, Pasutto F, Hoja U, Liravi P, Gusek-Schneider GC, Kruse F, et al. Journal article Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome (2017) Pasutto F, Flinter F, Rauch A, Reis A Journal article Histopathological proof of the pathogenicity of a rare GFAP mutation in a patient with flaccid paraparesis (2017) Brackmann F, Coras R, Rössler K, Kraus C, Rompel O, Trollmann R Journal article STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability (2017) Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, et al. Journal article A new semisynthetic cardenolide analog 3β-[2-(1-amantadine)-1-on-ethylamine]-digitoxigenin (AMANTADIG) affects G2/M cell cycle arrest and miRNA expression profiles and enhances proapoptotic survivin-2B expression in renal cell carcinoma cell lines (2017) Nolte E, Wach S, Silva IT, Lukat S, Ekici AB, Munkert J, Müller-Uri F, et al. Journal article, Original article Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders (2017) Reuter M, Tawamie H, Buchert R, Gebril OH, Froukh T, Thiel C, Uebe S, et al. Journal article Angiopoietin-1 is required for Schlemm's canal development in mice and humans (2017) Thomson BR, Souma T, Tompson SW, Onay T, Kizhatil K, Siggs OM, Feng L, et al. Journal article DNA methylation mediates genotype and smoking interaction in the development of anti-citrullinated peptide antibody-positive rheumatoid arthritis (2017) Meng W, Zhu Z, Jiang X, Too CL, Uebe S, Jagodic M, Kockum I, et al. Journal article Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology (2017) Ripperger T, Bielack SS, Borkhardt A, Brecht IB, Burkhardt B, Calaminus G, Debatin KM, et al. Journal article