Syndromic neurodevelopmental disorder associated with de novo variants in DDX23

Autor: Aida Telegrafi, Susanne Liptay, Korbinian M. Riedhammer, Katherine G. Langley, Florencia del Viso, Ilaria Parenti, Divya Ramachandra, Jolanta Wierzba, Lynne M. Bird, Joseph Porrmann, Sophie Gößwein, Isabelle Thiffault, Richard Steet, Michael J. Lyons, Neda Zadeh, William Boyce Burns, Boris Keren, Kendra Engleman, Heather M. McLaughlin, Delphine Héron, Shivarajan Manickavasagam Amudhavalli, Raymond J. Louie, Andrea Fischer, Frank J. Kaiser

Publikováno v: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2021, ⟨10.1002/ajmg.a.62359⟩
American Journal of Medical Genetics Part A, 2021, ⟨10.1002/ajmg.a.62359⟩

The DEAD/DEAH box RNA helicases are a superfamily of proteins involved in the processing and transportation of RNA within the cell. A growing literature supports this family of proteins as contributing to various types of human disorders from neurode

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faf7d8f83c75b437233245794749a98a
https://hal.sorbonne-universite.fr/hal-03251630/file/ajmg.a.62359.pdf

Vascular risk factors in children, adolescents, and young adults with type 1 diabetes complicated by celiac disease: results from the DPV initiative

Autor: Elke Fröhlich-Reiterer, Martin Schebek, Katharina Warncke, Tilman R. Rohrer, Nicole Scheuing, Thomas Meissner, Susanne Liptay, Johannes Wolf, Reinhard W. Holl

Publikováno v: Pediatric Diabetes. 17:191-198

Objective Celiac disease (CD) is a common comorbidity of type 1 diabetes (T1D). Long-term consequences of CD are not completely understood, and adhering to a gluten-free diet is a burden for many patients. We investigated the effect of CD on vascular

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::279b42c6b1a154c6c75ebc2781315dae
https://doi.org/10.1111/pedi.12261

Avoiding Harmful Procedures in Patients With Elevated α-Fetoprotein Concentrations

Autor: Stefan Burdach, Irene Teichert-von Lüttichau, Walter Bonfig, Maja Hempel, Susanne Liptay

Publikováno v: Journal of Pediatric Hematology/Oncology. 34:e301-e303

BACKGROUND Hereditary persistence of α-fetoprotein (AFP) is a rare but benign condition. OBSERVATION A 13-year-old girl presented with dysmenorrhoic complaints and irregular cycles. Diagnostic workup revealed a cystic lesion of the ovary and elevate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::271efd7f38826f8a1f5c86b094b4514e
https://doi.org/10.1097/mph.0b013e3182441256

Abnormal organogenesis of Peyer's patches in mice deficient for NF-κB1, NF-κB2, and Bcl-3

Autor: Roland M. Schmid, Monika Wilda, Klaus Pfeffer, Guido Adler, Heidrun Merkle, M Riemann, Horst Hameister, Stephan Paxian, Susanne Liptay

Publikováno v: Gastroenterology. 122:1853-1868

Background & Aims: Nuclear factor (NF) κB1, NF-κB2, and Bcl-3 encode for proteins of the NF-κB/Rel/IκB families, known as regulators of innate and adoptive immune responses. Targeted disruption of these genes showed essential roles in lymphoid or

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1697f717b498cb24d46a1dba8a2b5b4f
https://doi.org/10.1053/gast.2002.33651

p300 Acts as a Transcriptional Coactivator for Mammalian Notch-1

Autor: Thomas Dobner, Guido Adler, Soizic Bourteele, Roland M. Schmid, Ulrike Kostezka, Franz Oswald, Birgitt Täuber, Susanne Liptay

Publikováno v: Molecular and Cellular Biology. 21:7761-7774

Notch-1 belongs to a family of transmembrane receptor proteins that direct the decisions as to various cell fates. After ligand binding, a proteolytic cleavage step occurs and the intracellular part of Notch-1, Notch-1-IC, translocates into the nucle

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8de50f540d1e1b4b6315c19f90f5a436
https://doi.org/10.1128/mcb.21.22.7761-7774.2001