Zobrazeno 1 - 10
of 153
pro vyhledávání: '"Hans Christian, Hennies"'
Autor:
Sophie A. Riesmeijer, Zoha Kamali, Michael Ng, Dmitriy Drichel, Bram Piersma, Kerstin Becker, Thomas B. Layton, Jagdeep Nanchahal, Michael Nothnagel, Ahmad Vaez, Hans Christian Hennies, Paul M. N. Werker, Dominic Furniss, Ilja M. Nolte
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-11 (2024)
Abstract Dupuytren’s disease (DD) is a highly heritable fibrotic disorder of the hand with incompletely understood etiology. A number of genetic loci, including Wnt signaling members, have been previously identified. Our overall aim was to identify
Externí odkaz:
https://doaj.org/article/1f6a94e13ec342bd8fe591da7584d1c3
Autor:
Omar Mohammed Alakloby, Fatimah Almuqarrab, Johannes Zschocke, Mathias Schmuth, Adnan Abdulkareem, Kholood Alnutaifi, Francis Borgio, Robert Gruber, Hans Christian Hennies
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-7 (2023)
Abstract Ichthyoses are a heterogeneous group of cornification disorders. The most common form of ichthyoses is ichthyosis vulgaris (IV) ([OMIM] #146,700), which can be inherited as autosomal semi-dominant mutation in the filaggrin gene (FLG). We pre
Externí odkaz:
https://doaj.org/article/8ee327b7825c45fa8a9685c4fc44a79a
Autor:
Nina Brauer, Yuto Maruta, Miriam Lisci, Katharina Strege, Ilske Oschlies, Hikari Nakamura, Svea Böhm, Kai Lehmberg, Leon Brandhoff, Stephan Ehl, Nima Parvaneh, Wolfram Klapper, Mitsunori Fukuda, Gillian M. Griffiths, Hans Christian Hennies, Tim Niehues, Sandra Ammann
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
IntroductionInborn errors of immunity (IEI) are characterized by a dysfunction of the immune system leading to increased susceptibility to infections, impaired immune regulation and cancer. We present a unique consanguineous family with a history of
Externí odkaz:
https://doaj.org/article/25f7c75470cc4f30b30e5396f519467f
Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling
Autor:
Mi-Ran Kim, Vinzenz Oji, Frederic Valentin, Heiko Traupe, Jerzy-Roch Nofer, Ingrid Hausser, Hans Christian Hennies, Katja Eckl, Stefan A. Wudy, Alberto Sánchez-Guijo, Laura Kerschke, Judith Fischer, Kira Süßmuth
Publikováno v:
Acta Dermato-Venereologica, Vol 101, Iss 9, p adv00546 (2021)
Data on vitamin D status of patients with inherited ichthyosis in Europe is scarce and unspecific concerning the genetic subtype. This study determined serum levels of 25-hydroxyvitamin D3 (25(OH)D3) in 87 patients with ichthyosis; 69 patients were a
Externí odkaz:
https://doaj.org/article/d4365859e08147dda236502c70629500
Autor:
Katja M. Eckl, Robert Gruber, Louise Brennan, Andrew Marriott, Roswitha Plank, Verena Moosbrugger-Martinz, Stefan Blunder, Anna Schossig, Janine Altmüller, Holger Thiele, Peter Nürnberg, Johannes Zschocke, Hans Christian Hennies, Matthias Schmuth
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Keratosis follicularis spinulosa decalvans (KFSD) is a rare cornification disorder with an X-linked recessive inheritance in most cases. Pathogenic variants causing X-linked KFSD have been described in MBTPS2, the gene for a membrane-bound zinc metal
Externí odkaz:
https://doaj.org/article/115b6a3d158f4d4b9e780b5eee8094b7
Autor:
Kerstin Becker, Sabine Siegert, Mohammad Reza Toliat, Juanjiangmeng Du, Ramona Casper, Guido H Dolmans, Paul M Werker, Sigrid Tinschert, Andre Franke, Christian Gieger, Konstantin Strauch, Michael Nothnagel, Peter Nürnberg, Hans Christian Hennies, German Dupuytren Study Group
Publikováno v:
PLoS ONE, Vol 11, Iss 7, p e0158101 (2016)
Dupuytren´s disease, a fibromatosis of the connective tissue in the palm, is a common complex disease with a strong genetic component. Up to date nine genetic loci have been found to be associated with the disease. Six of these loci contain genes th
Externí odkaz:
https://doaj.org/article/c4b007a7d833440e9d478cb5f3220c5b
Autor:
Fatimah J. Almuqarrab, Omar Mohammed Alakloby, Jamal Mohammed Alqahtani, Hans Christian Hennies
Publikováno v:
The American journal of case reports. 23
BACKGROUND Annular epidermolytic ichthyosis is a rare form of epidermolytic ichthyosis caused by specific pathogenic variants of KRT1 and KRT10. Classically, it manifests at birth with variable degrees of erythroderma and superficial erosions, which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8182bef34f222e79c3d87ea24f457421
https://pubmed.ncbi.nlm.nih.gov/35202349
https://pubmed.ncbi.nlm.nih.gov/35202349
Autor:
Dulce Lima Cunha, Verena Moosbrugger-Martinz, Sarah Hedtrich, Guy Yealland, Sari Thomforde, Roswitha Plank, Patrick Graff, Marcelo Calderón, Enrico Miceli, Hans Christian Hennies, Katja Martina Eckl, Robert Gruber
Publikováno v:
Journal of Investigative Dermatology. 139:1191-1195
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c59aa2632dada56f71f4901171e1b86b
https://doi.org/10.1016/j.jid.2018.11.002
https://doi.org/10.1016/j.jid.2018.11.002
Autor:
Hans Christian, Hennies, Yves, Poumay
Publikováno v:
Handbook of experimental pharmacology. 265
Investigative skin biology, analysis of human skin diseases, and numerous clinical and pharmaceutical applications rely on skin models characterized by reproducibility and predictability. Traditionally, such models include animal models, mainly roden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c94a77d531f9761e2daadf1960721bd1
https://pubmed.ncbi.nlm.nih.gov/33387068
https://pubmed.ncbi.nlm.nih.gov/33387068
Autor:
Hans Christian Hennies, Yves Poumay
Publikováno v:
Organotypic Models in Drug Development ISBN: 9783030700621
Investigative skin biology, analysis of human skin diseases, and numerous clinical and pharmaceutical applications rely on skin models characterized by reproducibility and predictability. Traditionally, such models include animal models, mainly roden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15d2afb744c7c4ee6f0d96d1e453caa0
https://doi.org/10.1007/164_2020_428
https://doi.org/10.1007/164_2020_428
