Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Ruslan Al-Ali"'
Autor:
Mandy Radefeldt, Silke Stellmacher-Kaiser, Susann Krake, Brigitte Kragl, Sabrina Lemke, Christian Beetz, Peter Bauer, Christian Junghanß, Ruslan Al-Ali
Publikováno v:
Life, Vol 13, Iss 12, p 2274 (2023)
The potential of circulating tumor DNA (ctDNA) as a biomarker to assess the progression of various solid tumors has been explored extensively. In this study, we investigated the feasibility of utilizing a ctDNA sequencing panel specifically designed
Externí odkaz:
https://doaj.org/article/180140f91296465abdbf281c4e0a04b7
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100474- (2023)
Externí odkaz:
https://doaj.org/article/556357f1b20f4adbbb6c87beabb8910a
Autor:
Emir Zonic, Mariana Ferreira, Luba M. Pardo, Javier Martini, Maria Eugenia Rocha, Ruxandra Aanicai, Natalia Ordonez-Herrera, Deepa Saravanakumar, Ligia S. Almeida, Inês C. Fernandes, Nishtha Gulati, Sumanth Mannepalli, Amela Hercegovac, Ruslan Al-Ali, Catarina Pereira, Omid Paknia, Uros Hladnik, Peter Bauer, Jorge Pinto Basto, Aida M. Bertoli-Avella
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100833- (2023)
Purpose: With this study, we aimed to explore the gene-disease relationship (GDR) evidence for 109 gene-disease pairs and the significance of a large Biodatabank for this classification. Methods: The Clinical Genome Resource (ClinGen) Clinical Validi
Externí odkaz:
https://doaj.org/article/5646c2cad13543d692abf4b0e83ef3f2
Autor:
Erin Janssen, Zachary Peters, Mohammed F. Alosaimi, Emma Smith, Elena Milin, Kelsey Stafstrom, Jacqueline G. Wallace, Craig D. Platt, Janet Chou, Yasmeen S. El Ansari, Tariq Al Farsi, Najim Ameziane, Ruslan Al-Ali, Maria Calvo, Maria Eugenia Rocha, Peter Bauer, Nouriya Abbas Al-Sannaa, Nashat Faud Al Sukaiti, Abdullah A. Alangari, Aida M. Bertoli-Avella, Raif S. Geha
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 20 (2022)
CBL-B is an E3 ubiquitin ligase that ubiquitinates proteins downstream of immune receptors to downregulate positive signaling cascades. Distinct homozygous mutations in CBLB were identified in 3 unrelated children with early-onset autoimmunity, one o
Externí odkaz:
https://doaj.org/article/39932b8ac161497cb818bcd607e93a5c
Autor:
Ruslan Al-Ali, Katharina Bauer, Jong-Whi Park, Ruba Al Abdulla, Valentina Fermi, Andreas von Deimling, Christel Herold-Mende, Jan-Philipp Mallm, Carl Herrmann, Wolfgang Wick, Şevin Turcan
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-12 (2019)
Abstract The presence of genome-wide DNA hypermethylation is a hallmark of lower grade gliomas (LGG) with isocitrate dehydrogenase (IDH) mutations. Further molecular classification of IDH mutant gliomas is defined by the presence (IDHmut-codel) or ab
Externí odkaz:
https://doaj.org/article/648525fc70e5488fb89fa53efcf3aa6f
Autor:
Yixuan Ma, Sina Sender, Anett Sekora, Weibo Kong, Peter Bauer, Najim Ameziane, Ruslan Al-Ali, Susann Krake, Mandy Radefeldt, Frank Ulrich Weiss, Markus M. Lerch, Alisha Parveen, Dietmar Zechner, Christian Junghanss, Hugo Murua Escobar
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 8, p 4295 (2022)
The aberrant activation of the phosphoinositide 3-kinase (PI3K)/ protein kinase B (AKT) pathway is common in pancreatic ductal adenocarcinomas (PDAC). The application of inhibitors against PI3K and AKT has been considered as a therapeutic option. We
Externí odkaz:
https://doaj.org/article/dccd764738a843b08f8f1f68a666fac6
Autor:
Yixuan Ma, Sina Sender, Anett Sekora, Weibo Kong, Peter Bauer, Najim Ameziane, Susann Krake, Mandy Radefeldt, Ruslan Al-Ali, Frank Ulrich Weiss, Markus M. Lerch, Alisha Parveen, Dietmar Zechner, Christian Junghanss, Hugo Murua Escobar
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 8, p 4409 (2022)
Casein kinase II (CK2) and cyclin-dependent kinases (CDKs) frequently interact within multiple pathways in pancreatic ductal adenocarcinoma (PDAC). Application of CK2- and CDK-inhibitors have been considered as a therapeutic option, but are currently
Externí odkaz:
https://doaj.org/article/b183fc4e070c4ba7b11f82963a3586b6
Publikováno v:
Laboratory Investigation. 103:100132
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
Autor:
Brahim Tabarki, Malak Alghamdi, Fuad Al Mutairi, Arndt Rolfs, Zuhair N. Al-Hassnan, Najim Ameziane, Aida M. Bertoli-Avella, Abdulrahman Alswaid, Anika Leubauer, Huma Arshad Cheema, Fowzan S. Alkuraya, Suliman Khan, Mohammed AlBalwi, Lihadh Al-Gazali, Oana Moldovan, Wafaa Eyaid, Ahmed Alfares, Vasiliki Karageorgou, Nouriya Al-Sannaa, Alize Urzi, Patrícia Dias, Majid Alfadhel, Amal Alhashem, Nadia Al Hashmi, Krishna Kumar Kandaswamy, Kornelia Tripolszki, Peter Bauer, Fatemeh Hadipour, Irina Hüning, Ruslan Al-Ali, Maha S. Zaki, Maria Eugenia Rocha, Natalia Ordonez-Herrera, Zahra Hadipour, Aisha M. Al-Shamsi, Christian Beetz, Ronja Hotakainen
Publikováno v:
Genetics in Medicine
Purpose Within this study, we aimed to discover novel gene–disease associations in patients with no genetic diagnosis after exome/genome sequencing (ES/GS). Methods We followed two approaches: (1) a patient-centered approach, which after routine di