Zobrazeno 1 - 10
of 111
pro vyhledávání: '"Population frequency"'
Autor:
Anja Klussmeier, Kathrin Putke, Steffen Klasberg, Maja Kohler, Jürgen Sauter, Daniel Schefzyk, Gerhard Schöfl, Carolin Massalski, Gesine Schäfer, Alexander H. Schmidt, Axel Roers, Vinzenz Lange
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
MICA is a stress-induced ligand of the NKG2D receptor that stimulates NK and T cell responses and was identified as a key determinant of anti-tumor immunity. The MICA gene is located inside the MHC complex and is in strong linkage disequilibrium with
Externí odkaz:
https://doaj.org/article/a6f7c668db0e47ccad7f26490b965d74
Autor:
M. Pilar Bayona-Bafaluy, Ester López-Gallardo, Sonia Emperador, David Pacheu-Grau, Julio Montoya, Eduardo Ruiz-Pesini
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-4 (2022)
Abstract Population frequency has been one of the most widely used criteria to help assign pathogenicity to newly described mitochondrial DNA variants. However, after sequencing this molecule in thousands of healthy individuals, it has been observed
Externí odkaz:
https://doaj.org/article/70a53b9337a44c7882f306eb3cf15732
Autor:
Marija Rozevska, Dmitrijs Rots, Linda Gailite, Ronalds Linde, Stanislavs Mironovs, Maksims Timcenko, Viktors Linovs, Dzintra Locmele, Ieva Micule, Baiba Lace, Viktorija Kenina
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
HINT1 is an ubiquitous homodimeric purine phosphoramidase belonging to the histidine-triad superfamily. In neurons, HINT1 stabilizes the interaction of different receptors and regulates the effects of their signaling disturbances. Changes in HINT1 ge
Externí odkaz:
https://doaj.org/article/e0e4c9f7982948bd9c9cfe0e52ab80f0
Autor:
Måns Magnusson, Jesper Eisfeldt, Daniel Nilsson, Adam Rosenbaum, Valtteri Wirta, Anna Lindstrand, Anna Wedell, Henrik Stranneheim
Publikováno v:
BMC Bioinformatics, Vol 21, Iss 1, Pp 1-10 (2020)
Abstract Background Exome and genome sequencing is becoming the method of choice for rare disease diagnostics. One of the key challenges remaining is distinguishing the disease causing variants from the benign background variation. After analysis and
Externí odkaz:
https://doaj.org/article/4e11b8c3f9e346468e404d1a4a66dfe4
Autor:
Cory D. Dunn
Publikováno v:
Biology Open, Vol 10, Iss 10 (2021)
Next-generation sequencing can quickly reveal genetic variation potentially linked to heritable disease. As databases encompassing human variation continue to expand, rare variants have been of high interest, since the frequency of a variant is expec
Externí odkaz:
https://doaj.org/article/766a3a74128340a6ae06973df08abaa3
Autor:
Ali Husham Abo Sablan, Melina Calmon
Publikováno v:
Forensic Science International: Reports, Vol 2, Iss , Pp 100107- (2020)
The supratrochlear foramen (STF) is a perforation in the septum that separates the coronoid fossae and the olecranon, in the distal portion of the humerus. The supratrochlear foramen is present in some humans, with an incidence rate that varies great
Externí odkaz:
https://doaj.org/article/f9ba46f5b0e144928a6fa3e0ba7416ec
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Akademický článek
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Akademický článek
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Autor:
M. Heath Farris, Andrew R. Scott, Pamela A. Texter, Marta Bartlett, Patricia Coleman, David Masters
Publikováno v:
BMC Bioinformatics, Vol 19, Iss 1, Pp 1-13 (2018)
Abstract Background Single nucleotide polymorphisms (SNPs) located within the human genome have been shown to have utility as markers of identity in the differentiation of DNA from individual contributors. Massively parallel DNA sequencing (MPS) tech
Externí odkaz:
https://doaj.org/article/6cc83976c1a843abaee08c3ba2ed790b