Silke Redler

IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

Frank Oeffner, Gayle Fischer, Rudolf Happle et al. · The American Journal of Human Genetics · 2009 · 148 citations · Full text

Inflammation, Protein Quality Control, Oxysterol +14

Androgenetic Alopecia: Identification of Four Genetic Risk Loci and Evidence for the Contribution of WNT Signaling to Its Etiology

Stefanie Heilmann‐Heimbach, Amy K. Kiefer, Nadine Fricker et al. · Journal of Investigative Dermatology · 2013 · 120 citations · Full text

Genetics, Genetic Epidemiology, Molecular Genetics +5

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

Aung Ko Win, James G. Dowty, Jeanette C. Reece et al. · The Lancet Oncology · 2021 · 112 citations · Full text

Lynch Syndrome, Retrospective Cohort Study, Cancer Risk +10

Loss-of-Function Mutations in the Filaggrin Gene and Alopecia Areata: Strong Risk Factor for a Severe Course of Disease in Patients Comorbid for Atopic Disease

Regina C. Betz, Jana Pforr, Antònia Flaquer et al. · Journal of Investigative Dermatology · 2007 · 106 citations · Full text

Severe Course, Allergy, Atopic Dermatitis +9

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

Mev Dominguez–Valentin, Saskia Haupt, Toni T. Seppälä et al. · EClinicalMedicine · 2023 · 91 citations · Full text