Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Anett Marais"'
Autor:
Kornelia Tripolszki, Melina Bilinski, Matthias Bieg, Anett Marais, Catarina Pereira, Javier Martini, Mukunth Sadagopan, Divine Lawir Fondzenyuy, Swathi Chinnappa, Stephanie Weissgraeber, Thomas Hackenberg, Chris Junghans, Johannes Numrich, Krishna Kumar Kandaswamy, Jorge Pinto-Basto, Peter Bauer, Omid Paknia
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101520- (2024)
Externí odkaz:
https://doaj.org/article/a6ec8e4e90ee4089a2d63adadc258d2e
Autor:
Aida Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, Alice Urzi, Catarina Pareira, Anett Marais, Khoula Al Shidhani, Sumaya Aloraimi, Galina Morales-Torres, Steffen Fisher, Laura Demuth, Laila Abdel Moteleb Selim, Nihal Al Menabawy, Maryam Busehail, Mohammed AlShaikh, Naser Gilani, Dler Nooruldeen Chalabi, Nasser S Alharbi, Majid Alfadhel, Mohammed Abdelrahman, Hanka Venselaar, Nadeem Anjum, Anjum Saeed, Malak Ali Alghamdi, Hamad Aljaedi, Hisham Arabi, Vasiliki Karageorgou, Suliman Khan, Zahra Hajjari, Mandy Radefeldt, Ruslan Al-Ali, Kornelia Tripolszki, Amer Jamhawi, Omid Paknia, Claudia Cozma, Huma Cheema, Najim Ameziane, Saleh Al-Muhsen, Peter Bauer
Publikováno v:
Journal of Medical Genetics, 59, 993-1001
Journal of Medical Genetics, 59, 10, pp. 993-1001
Journal of Medical Genetics, 59, 10, pp. 993-1001
PurposeWe sought to describe a disorder clinically mimicking cystic fibrosis (CF) and to elucidate its genetic cause.MethodsExome/genome sequencing and human phenotype ontology data of nearly 40 000 patients from our Bio/Databank were analysed. RNA s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38c4a0faa290a3077e80ae69e0f23f9e
https://doi.org/10.1136/jmedgenet-2021-108150
https://doi.org/10.1136/jmedgenet-2021-108150
Autor:
Anett Marais, Aida M. Bertoli-Avella, Christian Beetz, Umut Altunoglu, Amal Alhashem, Sarar Mohamed, Abdulaziz Alghamdi, Patrick Willems, Eirini Tsoutsou, Helena Fryssira, Roser Pons, Reem Almarzooq, Elif Yüksel Karatoprak, Akif Ayaz, Gökçen Ünverengil, Maria Calvo, Zafer Yüksel, Peter Bauer
Publikováno v:
European journal of medical genetics. 65(8)
Transcriptional coregulators modulate the efficiency of transcription factors. Bi-allelic variants in TRIP4 and ASCC1, two genes that encode members of the tetrameric coregulator ASC-1, have recently been associated with congenital bone fractures, hy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e12c1a1cac14ae328b9bf7172a28ac32
https://pubmed.ncbi.nlm.nih.gov/35690317
https://pubmed.ncbi.nlm.nih.gov/35690317
Autor:
Oliver Brandau, Omid Paknia, Anett Marais, Lia Abbasi Moheb, Makia J. Marafi, Peter Bauer, Nouriya Al-Sannaa, Arndt Rolfs, Seham Alameer, Fahad Al-Hakami, Nana-Maria Grüning, Zafer Yüksel, Nahla Alshaikh, Aida M. Bertoli-Avella, Fahd Al-Mulla, Jose Maria Garcia-Aznar
Publikováno v:
European Journal of Human Genetics. 26:592-598
Congenital neurological disorders are genetically highly heterogeneous. Rare forms of hereditary neurological disorders are still difficult to be adequately diagnosed. Pertinent studies, especially when reporting only single families, need independen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89b992da06aa991ed95ceaa1db5ed5ea
https://doi.org/10.1038/s41431-018-0097-3
https://doi.org/10.1038/s41431-018-0097-3
Autor:
Uschi Gruber, Mathias Dreger, Christian Blex, Matthias Hakelberg, Anett Marais, Frederick Gyapon Quast, Friedrich Kroll, Kathrin Bartho, Anna K. Schrey, Hubert Köster, Oliver Popp, Michael Sefkow, Jens Furkert, Ralf Schülein, Jenny Eichhorst, Sylvia Niquet, Simon Michaelis
Publikováno v:
ChemBioChem. 18:1639-1649
Unbiased chemoproteomic profiling of small-molecule interactions with endogenous proteins is important for drug discovery. For meaningful results, all protein classes have to be tractable, including G protein-coupled receptors (GPCRs). These receptor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7c85a61c9c229a5b5b44adbfcfef7b4
https://doi.org/10.1002/cbic.201700152
https://doi.org/10.1002/cbic.201700152
Autor:
Jose Maria Garcia-Aznar, Waleed Al-Twaijri, Ahmed Al-Rumayyan, Aida M. Bertoli-Avella, Rami Abou Jamra, Omid Paknia, Anett Marais, Karen Wessel, Oliver Brandau, Rolf Schröder, Julia Köster, Maria Calvo del Castillo, Majid Alfadhel, Krishna Kumar Kandaswamy, Ali Alothaim, Amal Alhashem, Shivendra Kishore, Martin Werber, Daniel Trujillano, Nouriya Al-Sannaa, Maximilian E. R. Weiss, Arndt Rolfs, Mohammed AlBalwi, Muhammad Talal Al Rifai, Nahid Nahavandi, Wafaa Eyaid, Caterina Baldi
Publikováno v:
European Journal of Human Genetics
We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from 54 countries with a wide phenotypic spectrum. Clinical information given by the requesting physicians was translated to HPO terms. WES processes were performed ac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1d859096a6b2606e713082b48d5edf5
https://doi.org/10.1038/ejhg.2016.146
https://doi.org/10.1038/ejhg.2016.146
Autor:
Sabrina Eichler, Maximilian E. R. Weiss, Arndt Rolfs, Jenny Creed, Efstathios B. Papachristos, Erol Baysal, Martin Werber, Julia Köster, Iqbal Yousuf Jaber, Krishna Kumar Kandaswamy, Anett Marais, Chantal Farra, Dina A. Mehaney, Daniel Trujillano
Publikováno v:
Molecular Genetics & Genomic Medicine
Genetic testing for cystic fibrosis and CFTR-related disorders mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the CFTR gene. We have explored a more efficient genetic screening strategy based on next-ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fc73e1e93128da283d32bfedb460369
https://doi.org/10.1002/mgg3.149
https://doi.org/10.1002/mgg3.149
Autor:
Eberhard Krause, Anett Marais, Zongling Ji, Andrew D. Sharrocks, Emma S. Child, David J. Mann
Publikováno v:
The Journal of Biological Chemistry
The journal of biological chemistry, 285: 35728-35739
The journal of biological chemistry, 285: 35728-35739
Several mammalian forkhead transcription factors have been shown to impact on cell cycle regulation and are themselves linked to cell cycle control systems. Here we have investigated the little studied mammalian forkhead transcription factor FOXK2 an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c24a2f2748f3216c6ff1263813c81cef
https://doi.org/10.1074/jbc.m110.154005
https://doi.org/10.1074/jbc.m110.154005
Functional interactions between the Forkhead transcription factor FOXK1 and the MADS-box protein SRF
Publikováno v:
Nucleic Acids Research
The combinatorial control of gene expression by the association of members of different families of transcription factors is a common theme in eukaryotic transcriptional control. The MADS-box transcription factors SRF and Mcm1 represent paradigms for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c34293c774440b0a2d01c402e9fab33
http://europepmc.org/articles/PMC1976435
http://europepmc.org/articles/PMC1976435
Autor:
Rainer Metternich, Hubert Koester, Mirko Glinski, Anna K. Schrey, Jenny J. Fischer, Anett Marais, Simon Michaelis, Mathias Dreger, Cornelia Schaudt, Michael Sefkow, Olivia Y. Graebner, Friedrich Kroll
Publikováno v:
Journal of medicinal chemistry. 55(8)
Recent studies have revealed that compounds believed to be highly selective frequently address multiple target proteins. We investigated the protein interaction profile of the widely prescribed thrombin inhibitor dabigatran (1), resulting in the iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0615a932263beaa534ff81686b86aa2
https://pubmed.ncbi.nlm.nih.gov/22494098
https://pubmed.ncbi.nlm.nih.gov/22494098