Zobrazeno 1 - 10
of 395
pro vyhledávání: '"second hit"'
Autor:
Colette Reinhold, Susanne Knorr, Rhonda L. McFleder, Lisa Rauschenberger, Muthuraman Muthuraman, Panagiota Arampatzi, Tom Gräfenhan, Andreas Schlosser, Michael Sendtner, Jens Volkmann, Chi Wang Ip
Publikováno v:
Neurobiology of Disease, Vol 193, Iss , Pp 106453- (2024)
DYT-TOR1A dystonia is the most common monogenic dystonia characterized by involuntary muscle contractions and lack of therapeutic options. Despite some insights into its etiology, the disease's pathophysiology remains unclear. The reduced penetrance
Externí odkaz:
https://doaj.org/article/75730ac91a984c17901626e8ba00be1c
Publikováno v:
Journal of Experimental & Clinical Cancer Research, Vol 42, Iss 1, Pp 1-12 (2023)
Abstract Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant cancer syndrome attributed to germline CDH1 mutations that carries a high risk for early onset DGC. HDGC raises a significant health issue due to its high penetrance and morta
Externí odkaz:
https://doaj.org/article/cccb4f0356804f088de3c693c6fad67b
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Malignant peripheral nerve sheath tumors (MPNSTs) are commonly associated with poor prognosis and are primarily caused by germline mutations in the SMARCB1/INI-1 gene. However, these tumors are rarely found in the spine. This case report presents the
Externí odkaz:
https://doaj.org/article/d658959696db4f11b133300f8869b583
Autor:
Lisa Rauschenberger, Esther-Marie Krenig, Alea Stengl, Susanne Knorr, Tristan H. Harder, Felix Steeg, Maximilian U. Friedrich, Kathrin Grundmann-Hauser, Jens Volkmann, Chi Wang Ip
Publikováno v:
Neurobiology of Disease, Vol 179, Iss , Pp 106056- (2023)
The relationship between genotype and phenotype in DYT-TOR1A dystonia as well as the associated motor circuit alterations are still insufficiently understood. DYT-TOR1A dystonia has a remarkably reduced penetrance of 20–30%, which has led to the se
Externí odkaz:
https://doaj.org/article/69a317db0e5a4ee98ff484e42030a71d
Autor:
Katerina Stano Kozubik, Lenka Radova, Kamila Reblova, Michal Smida, Marketa Zaliova Kubricanova, Jiri Baloun, Michaela Pesova, Zuzana Vrzalova, Frantisek Folber, Sona Mejstrikova, Sarka Pospisilova, Michael Doubek
Publikováno v:
Platelets, Vol 32, Iss 6, Pp 838-841 (2021)
Germline mutations in ETV6 gene cause inherited thrombocytopenia with leukemia predisposition. Here, we report on functional validation of ETV6 W380R mutation segregating with thrombocytopenia in a family where two family members also suffered from a
Externí odkaz:
https://doaj.org/article/df06206cdabd4b8b86d66e3bdd0b8058
Autor:
Cédric Van Marcke, Raphaël Helaers, Anne De Leener, Ahmad Merhi, Céline A. Schoonjans, Jérôme Ambroise, Christine Galant, Paul Delrée, Françoise Rothé, Isabelle Bar, Elsa Khoury, Pascal Brouillard, Jean-Luc Canon, Peter Vuylsteke, Jean-Pascal Machiels, Martine Berlière, Nisha Limaye, Miikka Vikkula, François P. Duhoux
Publikováno v:
Breast Cancer Research, Vol 22, Iss 1, Pp 1-13 (2020)
Abstract Background Multigene panels are routinely used to assess for predisposing germline mutations in families at high breast cancer risk. The number of variants of unknown significance thereby identified increases with the number of sequenced gen
Externí odkaz:
https://doaj.org/article/44b3c35783f64909bdc3137b3da359fb
Publikováno v:
Pulmonary Circulation, Vol 12, Iss 1, Pp n/a-n/a (2022)
Abstract The second hit hypothesis in pulmonary hypertension refers to the development of pulmonary vascular disease in individuals at risk, after an additional exposure or “hit” to factors with potential injury to the pulmonary circulation, such
Externí odkaz:
https://doaj.org/article/8f3e4768804f4e2f8452d1527795564c
Autor:
Wen Kong, Tongtong Yang, Xiaodong Wen, Zhongyi Mu, Cheng Zhao, Sujun Han, Jing Tian, Xinhao Zhang, Tao Zhou, Yanrui Zhang, Feng Lou, Shanbo Cao, Huina Wang, Jin Zhang
Publikováno v:
Frontiers in Oncology, Vol 11 (2021)
BackgroundRenal cell carcinoma (RCC) is a disease of genomic alterations, of which the complete panorama helps in facilitating molecular-guided therapy. Germline mutation profiles and associated somatic and clinical characteristics remains unexplored
Externí odkaz:
https://doaj.org/article/2c8e8e86d9754e66a2e676592b8c377c
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.