Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1.

Autor: Komlosi K; Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, Freiburg, Germany., Glocker C; Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, Freiburg, Germany., Hsu-Rehder HH; Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, Freiburg, Germany., Alter S; Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, Freiburg, Germany., Kopp J; Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, Freiburg, Germany., Hotz A; Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, Freiburg, Germany., Zimmer AD; Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, Freiburg, Germany., Hausser I; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany., Sandhoff R; Lipid Pathobiochemistry Group, German Cancer Research Center, Heidelberg, Germany., Oji V; Department of Dermatology, University Hospital Münster, Münster, Germany., Fischer J; Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, Freiburg, Germany. Electronic address: judith.fischer@uniklinik-freiburg.de.

Publikováno v: The Journal of investigative dermatology [J Invest Dermatol] 2024 Dec; Vol. 144 (12), pp. 2754-2763.e6. Date of Electronic Publication: 2024 Apr 18.

Exploring Structural and Molecular Features of Sciatic Nerve Lesions in Diabetic Neuropathy: Unveiling Pathogenic Pathways and Targets.

Autor: Schwarz D; Department of Neuroradiology, Heidelberg University Hospital, Im Neuenheimer Feld 400, 69120 Heidelberg, Germany., Marois ML; Department for Endocrinology, Diabetology, Metabolic diseases and Clinical Chemistry, University Hospital Heidelberg, Im Neuenheimer Feld 410, 69120 Heidelberg, Germany., Sturm V; Department of Neuroradiology, Heidelberg University Hospital, Im Neuenheimer Feld 400, 69120 Heidelberg, Germany., Peters AS; Department for Vascular Surgery and Endovascular Surgery, Heidelberg University Hospital, Im Neuenheimer Feld 420, 69120 Heidelberg, Germany.; Vascular biomaterial bank Heidelberg, Heidelberg University Hospital, Im Neuenheimer Feld 420, 69120 Heidelberg, Germany., Longuespée R; German Cancer Research Center (DKFZ), Heidelberg, Division of Metabolic Crosstalk in Cancer and the German Cancer Consortium (DKTK), DKFZ Core Center Heidelberg, 69120 Heidelberg, Germany., Helm D; Proteomics Core Facility, German Cancer Research Center (DKFZ), Heidelberg, Germany., Schneider M; Proteomics Core Facility, German Cancer Research Center (DKFZ), Heidelberg, Germany., Eichmüller B; Department for Endocrinology, Diabetology, Metabolic diseases and Clinical Chemistry, University Hospital Heidelberg, Im Neuenheimer Feld 410, 69120 Heidelberg, Germany., Hidmark AS; Department for Endocrinology, Diabetology, Metabolic diseases and Clinical Chemistry, University Hospital Heidelberg, Im Neuenheimer Feld 410, 69120 Heidelberg, Germany., Fischer M; Department of Neuroradiology, Heidelberg University Hospital, Im Neuenheimer Feld 400, 69120 Heidelberg, Germany., Kender Z; Department for Endocrinology, Diabetology, Metabolic diseases and Clinical Chemistry, University Hospital Heidelberg, Im Neuenheimer Feld 410, 69120 Heidelberg, Germany.; German Center for Diabetes Research (DZD), Helmholtz Center Munich, Neuherberg, Germany., Schwab C; Department of General Pathology, Institute of Pathology, Heidelberg University Hospital, Im Neuenheimer Feld 224 69120 Heidelberg, Germany., Hausser I; Department of General Pathology, Institute of Pathology, Heidelberg University Hospital, Im Neuenheimer Feld 224 69120 Heidelberg, Germany., Weis J; Institute of Neuropathology, RWTH Aachen, University Hospital, Aachen, Germany., Dihlmann S; Department for Vascular Surgery and Endovascular Surgery, Heidelberg University Hospital, Im Neuenheimer Feld 420, 69120 Heidelberg, Germany., Böckler D; Department for Vascular Surgery and Endovascular Surgery, Heidelberg University Hospital, Im Neuenheimer Feld 420, 69120 Heidelberg, Germany., Bendszus M; Department of Neuroradiology, Heidelberg University Hospital, Im Neuenheimer Feld 400, 69120 Heidelberg, Germany., Heiland S; Department of Neuroradiology, Heidelberg University Hospital, Im Neuenheimer Feld 400, 69120 Heidelberg, Germany., Herzig S; German Center for Diabetes Research (DZD), Helmholtz Center Munich, Neuherberg, Germany.; Institute for Diabetes and Cancer, Helmholtz Center Munich, Neuherberg, Germany.; Joint Heidelberg-IDC Translational Diabetes Program, Internal Medicine I, Heidelberg University Hospital, Heidelberg, Germany.; Chair Molecular Metabolic Control, Technical University Munich, Munich, Germany., Nawroth PP; Department for Endocrinology, Diabetology, Metabolic diseases and Clinical Chemistry, University Hospital Heidelberg, Im Neuenheimer Feld 410, 69120 Heidelberg, Germany.; Institute for Immunology, University Hospital Heidelberg, Heidelberg, Germany., Szendroedi J; Department for Endocrinology, Diabetology, Metabolic diseases and Clinical Chemistry, University Hospital Heidelberg, Im Neuenheimer Feld 410, 69120 Heidelberg, Germany.; German Center for Diabetes Research (DZD), Helmholtz Center Munich, Neuherberg, Germany.; Joint Heidelberg-IDC Translational Diabetes Program, Internal Medicine I, Heidelberg University Hospital, Heidelberg, Germany., Fleming T; Department for Endocrinology, Diabetology, Metabolic diseases and Clinical Chemistry, University Hospital Heidelberg, Im Neuenheimer Feld 410, 69120 Heidelberg, Germany.; German Center for Diabetes Research (DZD), Helmholtz Center Munich, Neuherberg, Germany.; Joint Heidelberg-IDC Translational Diabetes Program, Internal Medicine I, Heidelberg University Hospital, Heidelberg, Germany.

Publikováno v: Diabetes [Diabetes] 2024 Oct 17. Date of Electronic Publication: 2024 Oct 17.

Impaired Detoxification of Trans, Trans-2,4-Decadienal, an Oxidation Product from Omega-6 Fatty Acids, Alters Insulin Signaling, Gluconeogenesis and Promotes Microvascular Disease.

Autor: Qian X; Department of Vascular Biology, European Center for Angioscience (ECAS), Medical Faculty Mannheim, Heidelberg University, 68167, Mannheim, Germany., Klatt S; Institute for Vascular Signaling, Centre for Molecular Medicine, Goethe-University, am Main, 60590, Frankfurt, Germany.; The German Centre for Cardiovascular Research (DZHK), Partner site RheinMain, 60590, Frankfurt, Germany., Bennewitz K; Department of Vascular Biology, European Center for Angioscience (ECAS), Medical Faculty Mannheim, Heidelberg University, 68167, Mannheim, Germany., Wohlfart DP; Department of Vascular Biology, European Center for Angioscience (ECAS), Medical Faculty Mannheim, Heidelberg University, 68167, Mannheim, Germany., Lou B; Department of Vascular Biology, European Center for Angioscience (ECAS), Medical Faculty Mannheim, Heidelberg University, 68167, Mannheim, Germany., Meng Y; Bone Marrow Transplantation Center, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310003, China., Buettner M; Metabolomics Core Technology Platform, Centre for Organismal Studies, Heidelberg University, 69120, Heidelberg, Germany., Poschet G; Metabolomics Core Technology Platform, Centre for Organismal Studies, Heidelberg University, 69120, Heidelberg, Germany., Morgenstern J; Department of Internal Medicine I and Clinical Chemistry, Heidelberg University Hospital, 69120, Heidelberg, Germany., Fleming T; Department of Internal Medicine I and Clinical Chemistry, Heidelberg University Hospital, 69120, Heidelberg, Germany., Sticht C; NGS Core Facility, Medical Faculty Mannheim, Heidelberg University, 68167, Mannheim, Germany., Hausser I; Institute of Pathology IPH, EM Lab, Heidelberg University Hospital, 69120, Heidelberg, Germany., Fleming I; Institute for Vascular Signaling, Centre for Molecular Medicine, Goethe-University, am Main, 60590, Frankfurt, Germany.; The German Centre for Cardiovascular Research (DZHK), Partner site RheinMain, 60590, Frankfurt, Germany., Szendroedi J; Department of Internal Medicine I and Clinical Chemistry, Heidelberg University Hospital, 69120, Heidelberg, Germany., Nawroth PP; Department of Internal Medicine I and Clinical Chemistry, Heidelberg University Hospital, 69120, Heidelberg, Germany., Kroll J; Department of Vascular Biology, European Center for Angioscience (ECAS), Medical Faculty Mannheim, Heidelberg University, 68167, Mannheim, Germany.

Publikováno v: Advanced science (Weinheim, Baden-Wurttemberg, Germany) [Adv Sci (Weinh)] 2024 Jan; Vol. 11 (4), pp. e2302325. Date of Electronic Publication: 2023 Dec 07.

Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review.

Autor: Doolan BJ; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK; St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, UK. Electronic address: b.doolan@nhs.net., Lavallee M; Department of Orthopedics, University of Pittsburgh Medical Center of Central PA, Pittsburgh, Pennsylvania., Hausser I; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany., Pope FM; Department of Dermatology, Chelsea and Westminster Hospital NHS Foundation Trust (West Middlesex University Hospital), London, UK., Seneviratne SL; Institute of Immunity and Transplantation, Royal Free Hospital and University College London, London, UK; Nawaloka Hospital Research and Education Foundation, Nawaloka Hospitals, Colombo, Sri Lanka., Winship IM; Department of Genetic Medicine, The Royal Melbourne Hospital, Melbourne, Victoria, Australia; Department of Medicine, The University of Melbourne, Melbourne, Victoria, Australia., Burrows NP; Department of Dermatology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

Publikováno v: Journal of the American Academy of Dermatology [J Am Acad Dermatol] 2023 Sep; Vol. 89 (3), pp. 551-559. Date of Electronic Publication: 2023 Feb 08.

Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review.

Autor: Doolan BJ; School of Basic and Medical Biosciences, St. John's Institute of Dermatology, King's College London, London, United Kingdom., Lavallee ME; Department of Orthopedics, University of Pittsburgh Medical Center of Central PA, Pittsburgh, PA, United States., Hausser I; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany., Schubart JR; Department of Surgery, Penn State College of Medicine, Hershey, PA, United States., Michael Pope F; Department of Dermatology, Chelsea and Westminster Hospital NHS Foundation Trust (West Middlesex University Hospital), London, United Kingdom., Seneviratne SL; Institute of Immunity and Transplantation, Royal Free Hospital and University College London, London, United Kingdom.; Nawaloka Hospital Research and Education Foundation, Nawaloka Hospitals, Colombo, Sri Lanka., Winship IM; Department of Genetic Medicine, The Royal Melbourne Hospital, Melbourne, VIC, Australia.; Department of Medicine, The University of Melbourne, Melbourne, VIC, Australia., Burrows NP; Department of Dermatology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.

Publikováno v: Frontiers in medicine [Front Med (Lausanne)] 2023 Jan 23; Vol. 10, pp. 1053466. Date of Electronic Publication: 2023 Jan 23 (Print Publication: 2023).