Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Julia Vornweg"'
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
Autor:
Nikolai Paul Pace, S. Aquilina, Judith Fischer, Rijad Merdzanic, Isabella Borg, Dillon Mintoff, Liam Mercieca, Johannes Numrich, Julia Vornweg
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)
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 studies w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1501fb9acf1de2c197dbb65faa60ec29
http://europepmc.org/articles/PMC8104165
http://europepmc.org/articles/PMC8104165
Autor:
Julia Vornweg, Bilal N. Sheikh, Tim Thomas, Martin Helmstädter, Sarah Diehl, Asifa Akhtar, I Hild, Thomas Stehle, Oliver Kretz, Abdullah H. Sahyoun, W Bechtel-Walz, Jacopo Lucci, O Karpiuk, Björn Hartleben, Vivek Bhardwaj, Thomas Manke, Tobias B. Huber, Anne K. Voss
Publikováno v:
Oncogene. 35(21)
MOF (MYST1, KAT8) is the major H4K16 lysine acetyltransferase (KAT) in Drosophila and mammals and is essential for embryonic development. However, little is known regarding the role of MOF in specific cell lineages. Here we analyze the differential r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::056bf1e2c86f8fcc007e6fa8929a4895
https://pubmed.ncbi.nlm.nih.gov/26434593
https://pubmed.ncbi.nlm.nih.gov/26434593
Autor:
Melissa H. Little, Florian Grahammer, Wibke Bechtel-Walz, Victor G. Puelles, Melanie Boerries, Oliver Kretz, Saskia Lindner, Timur Liwinski, Mary E. Wlodek, Raza-Ur Rahman, Sean M. Wilson, Tania Romano, Tobias B. Huber, Alexander N. Combes, Gesa Rafflenbeul, Julia Plappert, Karen M. Moritz, Nicola Wanner, Julia Vornweg, Hauke Busch, Stefan Bonn
Publikováno v:
Journal of the American Society of Nephrology 30(1), 63-78 (2018). doi:10.1681/ASN.2018070736
Journal of the American Society of Nephrology
Journal of the American Society of Nephrology
BACKGROUND: Nephron number is a major determinant of long-term renal function and cardiovascular risk. Observational studies suggest that maternal nutritional and metabolic factors during gestation contribute to the high variability of nephron endowm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bd73d478f56973a66dbd56c35ef4604