Zobrazeno 1 - 10
of 300
pro vyhledávání: '"Judith, Fischer"'
Autor:
Christina Koupourtidou, Veronika Schwarz, Hananeh Aliee, Simon Frerich, Judith Fischer-Sternjak, Riccardo Bocchi, Tatiana Simon-Ebert, Xianshu Bai, Swetlana Sirko, Frank Kirchhoff, Martin Dichgans, Magdalena Götz, Fabian J. Theis, Jovica Ninkovic
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
Abstract Traumatic brain injury leads to a highly orchestrated immune- and glial cell response partially responsible for long-lasting disability and the development of secondary neurodegenerative diseases. A holistic understanding of the mechanisms c
Externí odkaz:
https://doaj.org/article/48c6ec864964436f8a281ba154e18ca0
Autor:
Kevin Koschitzki, Bernadett Kurz, Julia Schreml, Judith Fischer, Alrun Hotz, Christoph M. Hammers, Mark Berneburg, Dennis Niebel, Stephan Schreml
Publikováno v:
Clinical Case Reports, Vol 12, Iss 5, Pp n/a-n/a (2024)
Key Clinical Message Keratosis palmoplantaris striata type I (SPPK‐I) is a rare autosomal‐dominant type of hereditary epidermolytic palmoplantar keratoderma, which can be caused by mutations in desmoglein‐1 (DSG‐1). Patients suffer from hyper
Externí odkaz:
https://doaj.org/article/6d956dc05ec54493957bc3cb2395a270
Parkinson's disease motor symptoms rescue by CRISPRa‐reprogramming astrocytes into GABAergic neurons
Autor:
Jessica Giehrl‐Schwab, Florian Giesert, Benedict Rauser, Chu Lan Lao, Sina Hembach, Sandrine Lefort, Ignacio L Ibarra, Christina Koupourtidou, Malte Daniel Luecken, Dong‐Jiunn Jeffery Truong, Judith Fischer‐Sternjak, Giacomo Masserdotti, Nilima Prakash, Jovica Ninkovic, Sabine M Hölter, Daniela M Vogt Weisenhorn, Fabian J Theis, Magdalena Götz, Wolfgang Wurst
Publikováno v:
EMBO Molecular Medicine, Vol 14, Iss 5, Pp 1-20 (2022)
Abstract Direct reprogramming based on genetic factors resembles a promising strategy to replace lost cells in degenerative diseases such as Parkinson's disease. For this, we developed a knock‐in mouse line carrying a dual dCas9 transactivator syst
Externí odkaz:
https://doaj.org/article/d6d64f7bdd884a3b9299b97fa956cf9b
Autor:
Mariem Ennouri, Andreas D. Zimmer, Emna Bahloul, Rim Chaabouni, Slaheddine Marrakchi, Hamida Turki, Faiza Fakhfakh, Noura Bougacha-Elleuch, Judith Fischer
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-10 (2022)
Abstract Background Ichthyosis is a heterogeneous group of Mendelian cornification disorders that includes syndromic and non-syndromic forms. Autosomal Recessive Congenital Ichthyosis (ARCI) and Ichthyosis Linearis Circumflexa (ILC) belong to non-syn
Externí odkaz:
https://doaj.org/article/c57723e82e6245b4940077ca5311cf91
Autor:
Franziska Schauer, Alexander Nyström, Manfred Kunz, Stefanie Hübner, Sarah Scholl, Ioannis Athanasiou, Svenja Alter, Judith Fischer, Cristina Has, Dimitra Kiritsi
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Collagen VII is the main constituent of the anchoring fibrils, important adhesive structures that attach the epidermis to the dermal extracellular matrix. Two disorders are caused by dysfunction of collagen VII, both characterized by skin and mucosa
Externí odkaz:
https://doaj.org/article/d7deab9ce12a4df7b69e4cb8ab9e9aca
Autor:
Katalin Komlosi, Selina Gläser, Julia Kopp, Alrun Hotz, Svenja Alter, Andreas D. Zimmer, Carmela Beger, Stefan Heinzel, Christoph Schmidt, Judith Fischer
Publikováno v:
JIMD Reports, Vol 55, Iss 1, Pp 51-58 (2020)
Abstract Many of the genetic childhood disorders leading to death in the perinatal period follow autosomal recessive inheritance and bear specific challenges for genetic counseling and prenatal diagnostics. Often, affected children die before a genet
Externí odkaz:
https://doaj.org/article/4708b54afbec4ce89b915b2a4da3e00a
Autor:
Katalin Komlosi, Olivier Claris, Sophie Collardeau-Frachon, Julia Kopp, Ingrid Hausser, Juliette Mazereeuw-Hautier, Nathalie Jonca, Andreas D. Zimmer, Damien Sanlaville, Judith Fischer
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Neonatal collodion baby or ichthyosis can pose a diagnostic challenge, and in many cases, only additional organ involvement or the course of the disease will help differentiate between non-syndromic and syndromic forms. Skin abnormalities are describ
Externí odkaz:
https://doaj.org/article/8a473d2c2b684160977f806763d83e91
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
Publikováno v:
Medizinische Genetik. 35:23-32
Inherited ichthyoses are classified as Mendelian disorders of cornification (MEDOC), which are further defined on the basis of clinical and genetic features and can be divided into non-syndromic and syndromic forms. To date, mutations in more than 30
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::00098d90d77c18377c86989d5d48625c
https://doi.org/10.1515/medgen-2023-2006
https://doi.org/10.1515/medgen-2023-2006
Autor:
Dillon Mintoff, Isabella Borg, Julia Vornweg, Liam Mercieca, Rijad Merdzanic, Johannes Numrich, Susan Aquilina, Nikolai Paul Pace, Judith Fischer
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)
Abstract Background Netherton syndrome (NS) is a genodermatosis caused by loss‐of‐function mutations in SPINK5, resulting in aberrant LEKTI expression. Method Next‐generation sequencing of SPINK5 (NM_001127698.1) was carried out and functional
Externí odkaz:
https://doaj.org/article/caf1f3839f7f47dbb19f4354834cd3c9