Zobrazeno 1 - 10
of 222
pro vyhledávání: '"Uwe, Wolfrum"'
Publikováno v:
Cells, Vol 13, Iss 22, p 1855 (2024)
The USH1G protein SANS is a small multifunctional scaffold protein. It is involved in several different cellular processes, such as intracellular transport, in the cytoplasm, or splicing of pre-mRNA, in the cell nucleus. Here, we aimed to gain insigh
Externí odkaz:
https://doaj.org/article/ef1908d6c1f44edcbe09d84037db5736
Autor:
Carla Sanjurjo-Soriano, Carla Jimenez-Medina, Nejla Erkilic, Luisina Cappellino, Arnaud Lefevre, Kerstin Nagel-Wolfrum, Uwe Wolfrum, Erwin Van Wijk, Anne-Françoise Roux, Isabelle Meunier, Vasiliki Kalatzis
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100229- (2023)
Summary: There is an emblematic clinical and genetic heterogeneity associated with inherited retinal diseases (IRDs). The most common form is retinitis pigmentosa (RP), a rod-cone dystrophy caused by pathogenic variants in over 80 different genes. Fu
Externí odkaz:
https://doaj.org/article/12422b011d57494b951baf0609ec467e
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
The human Usher syndrome (USH) is the most common form of a sensory hereditary ciliopathy characterized by progressive vision and hearing loss. Mutations in the genes ADGRV1 and CIB2 have been associated with two distinct sub-types of USH, namely, US
Externí odkaz:
https://doaj.org/article/b051c4e7f75a4dd8b3aa8b33d9c8634b
Autor:
Sophia Grotz, Jessica Schäfer, Kirsten A Wunderlich, Zdenka Ellederova, Hannah Auch, Andrea Bähr, Petra Runa‐Vochozkova, Janet Fadl, Vanessa Arnold, Taras Ardan, Miroslav Veith, Gianluca Santamaria, Georg Dhom, Wolfgang Hitzl, Barbara Kessler, Christian Eckardt, Joshua Klein, Anna Brymova, Joshua Linnert, Mayuko Kurome, Valeri Zakharchenko, Andrea Fischer, Andreas Blutke, Anna Döring, Stepanka Suchankova, Jiri Popelar, Eduardo Rodríguez‐Bocanegra, Julia Dlugaiczyk, Hans Straka, Helen May‐Simera, Weiwei Wang, Karl‐Ludwig Laugwitz, Luk H Vandenberghe, Eckhard Wolf, Kerstin Nagel‐Wolfrum, Tobias Peters, Jan Motlik, M Dominik Fischer, Uwe Wolfrum, Nikolai Klymiuk
Publikováno v:
EMBO Molecular Medicine, Vol 14, Iss 4, Pp 1-24 (2022)
Abstract Usher syndrome (USH) is the most common form of monogenic deaf‐blindness. Loss of vision is untreatable and there are no suitable animal models for testing therapeutic strategies of the ocular constituent of USH, so far. By introducing a h
Externí odkaz:
https://doaj.org/article/f0ba22f95e7b4b36b03173d767e7f90f
Autor:
Jessica Schäfer, Nicole Wenck, Katharina Janik, Joshua Linnert, Katarina Stingl, Susanne Kohl, Kerstin Nagel-Wolfrum, Uwe Wolfrum
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Human Usher syndrome (USH) is the most common form of hereditary combined deaf-blindness. USH is a complex genetic disorder, and the pathomechanisms underlying the disease are far from being understood, especially in the eye and retina. The USH1C gen
Externí odkaz:
https://doaj.org/article/c34b9e213e084b9ca8c16ed06537e22a
Autor:
Romy Winkler, Marianne Quaas, Stefan Glasmacher, Uwe Wolfrum, Torsten Thalheim, Jörg Galle, Knut Krohn, Thomas M. Magin, Gabriela Aust
Publikováno v:
Cells, Vol 12, Iss 13, p 1677 (2023)
In the original publication [...]
Externí odkaz:
https://doaj.org/article/312d4866bd2a42a5b6bfcc161180f2f2
Autor:
Avigail Beryozkin, Chen Matsevich, Alexey Obolensky, Corinne Kostic, Yvan Arsenijevic, Uwe Wolfrum, Eyal Banin, Dror Sharon
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Abstract FAM161A mutations are the most common cause of inherited retinal degenerations in Israel. We generated a knockout (KO) mouse model, Fam161a tm1b/tm1b , lacking the major exon #3 which was replaced by a construct that include LacZ under the e
Externí odkaz:
https://doaj.org/article/ad0c300bad8c4e92b277d31a4d21ab58
Publikováno v:
STAR Protocols, Vol 2, Iss 4, Pp 100954- (2021)
Summary: Primary astrocytes have gained attention as an important model for in vitro biological and biochemical research in the last decades. In this protocol, we describe a fast and cost-effective technique for isolating, culturing, and maintaining
Externí odkaz:
https://doaj.org/article/741d2086c119436caa30703ee0d3c7af
Autor:
Romy Winkler, Marianne Quaas, Stefan Glasmacher, Uwe Wolfrum, Torsten Thalheim, Jörg Galle, Knut Krohn, Thomas M. Magin, Gabriela Aust
Publikováno v:
Cells, Vol 11, Iss 19, p 3151 (2022)
Among the 33 human adhesion G-protein-coupled receptors (aGPCRs), a unique subfamily of GPCRs, only ADGRF4, encoding GPR115, shows an obvious skin-dominated transcriptomic profile, but its expression and function in skin is largely unknown. Here, we
Externí odkaz:
https://doaj.org/article/73a65f99dd5c409cb55b350424920c64
Autor:
Jacek Krzysko, Filip Maciag, Anna Mertens, Baran Enes Güler, Joshua Linnert, Karsten Boldt, Marius Ueffing, Kerstin Nagel-Wolfrum, Martin Heine, Uwe Wolfrum
Publikováno v:
Cells, Vol 11, Iss 18, p 2790 (2022)
The very large G protein-coupled receptor (VLGR1, ADGRV1) is the largest member of the adhesion GPCR family. Mutations in VLGR1 have been associated with the human Usher syndrome (USH), the most common form of inherited deaf-blindness as well as chil
Externí odkaz:
https://doaj.org/article/6b799e00d26e4912bbdf1c5a7b12e3aa