Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.

Autor: Averdunk L; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany. Electronic address: luisasusan.averdunk@med.uni-duesseldorf.de., Huetzen MA; Max Planck Research Group Mechanisms of DNA Repair, Max Planck Institute for Biology of Ageing, Cologne, Germany; Department I of Internal Medicine, Center for Integrated Oncology Aachen Bonn Cologne and Duesseldorf, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Response in Aging-Associated Diseases, University of Cologne, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Moreno-Andrés D; Institute of Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany., Kalb R; Institute for Human Genetics, Biocenter, University of Würzburg, Würzburg, Germany., McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast HSC Trust, Belfast, United Kingdom., Hsieh TC; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany., Seibt A; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany., Schouwink M; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany., Lalani S; Department of Molecular Genetics, Baylor College of Medicine, Houston, TX., Faqeih EA; Division of Medical Genetics, Children's Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Brunet T; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Boor P; Institute of Pathology and Electron Microscopy Facility, Medical Faculty, RWTH Aachen University, Aachen, Germany., Neveling K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hildebrandt B; Institute of Human Genetics, University Hospital Düsseldorf, Heinrich-Heine-Universität, Düsseldorf, Germany., Graf E; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany., Lu L; Division of Hematology/Oncology, Department of Pediatrics, Texas Children's Cancer Center, Baylor College of Medicine, Houston, TX., Jin W; Division of Hematology/Oncology, Department of Pediatrics, Texas Children's Cancer Center, Baylor College of Medicine, Houston, TX., Schaper J; Center of Rare Diseases, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany., Omer JA; Department of General Pediatrics, Children's Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Demaret T; Centre de Génétique Humaine, Institut de Pathologie et Génétique, Gosselies, Belgium., Fleischer N; FDNA Inc., Boston, MA., Schindler D; Institute for Human Genetics, Biocenter, University of Würzburg, Würzburg, Germany., Krawitz P; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany., Mayatepek E; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany., Wieczorek D; Institute of Human Genetics, University Hospital Düsseldorf, Heinrich-Heine-Universität, Düsseldorf, Germany., Wang LL; Division of Hematology/Oncology, Department of Pediatrics, Texas Children's Cancer Center, Baylor College of Medicine, Houston, TX., Antonin W; Institute of Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, Aachen, Germany., Jachimowicz RD; Max Planck Research Group Mechanisms of DNA Repair, Max Planck Institute for Biology of Ageing, Cologne, Germany; Department I of Internal Medicine, Center for Integrated Oncology Aachen Bonn Cologne and Duesseldorf, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Response in Aging-Associated Diseases, University of Cologne, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., von Felbert V; Department of Dermatology and Allergology, Medical Faculty, RWTH Aachen University, Aachen, Germany., Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany. Electronic address: felix.distelmaier@med.uni-duesseldorf.de.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jul; Vol. 25 (7), pp. 100836. Date of Electronic Publication: 2023 Mar 31.

Myoelectric and motor activity after proctocolectomy and ileal pouch–anal anastomosis in dogs

Autor: Willis, S., von Felbert, V., Buss, A., Schippers, E., Schumpelick, V.

Publikováno v: In Surgery February 2000 127(2):170-177

5-aminolaevulinic acid photodynamic therapy in a transgenic mouse model of skin melanoma.

Autor: Córdoba, F., Braathen, L. R., Weissenberger, J., Vallan, C., Kato, M., Nakashima, I., Weis, J., von Felbert, V.

Publikováno v: Experimental Dermatology; Jun2005, Vol. 14 Issue 6, p429-437, 9p

Psoriasis and Seasonality: Exploring the Genetic and Epigenetic Interactions.

Autor: Niedźwiedź, Michał^1,2 (AUTHOR) m.niedzwiedz.med@gmail.com, Skibińska, Małgorzata¹ (AUTHOR) magdalena.ciazynska@umed.lodz.pl, Ciążyńska, Magdalena¹ (AUTHOR) marcin.noweta@umed.lodz.pl, Noweta, Marcin¹ (AUTHOR) joanna.narbutt@umed.lodz.pl, Czerwińska, Agnieszka³ (AUTHOR) aczerwinska@igf.edu.pl, Krzyścin, Janusz³ (AUTHOR) jkrzys@igf.edu.pl, Narbutt, Joanna¹ (AUTHOR) aleksanral.lesiak@umed.lodz.pl, Lesiak, Aleksandra^1,4 (AUTHOR)

Publikováno v: International Journal of Molecular Sciences. Nov2024, Vol. 25 Issue 21, p11670. 24p.

[Acrodermatitis enteropathica-like skin lesions due to Crohn's disease-associated zinc deficiency]

Autor: von Felbert, V, Hunziker, T

Publikováno v: von Felbert, V; Hunziker, T (2010). [Acrodermatitis enteropathica-like skin lesions due to Crohn's disease-associated zinc deficiency]. Hautarzt, 61(11), pp. 927-9. Heidelberg: Springer-Medizin-Verlag 10.1007/s00105-010-2060-2

We report a case of acrodermatitis enteropathica-like skin eruptions presenting with alopecia, perlèche, glossitis, and genital erosions as well as multifocal eczematoid, psoriasiform, and bullous skin lesions due to zinc deficiency in Crohn's disea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a268982b4141cee6b6532ddd1c6c56b