Zobrazeno 1 - 10
of 741
pro vyhledávání: '"Risk allele"'
Publikováno v:
Diabetes, Metabolic Syndrome and Obesity, Vol Volume 16, Pp 557-564 (2023)
Monika Buraczynska, Jakub Golacki, Wojciech Zaluska Department of Nephrology, Medical University of Lublin, Lublin, PolandCorrespondence: Monika Buraczynska, Department of Nephrology, Medical University of Lublin, Jaczewskiego 8, Lublin, 20-950, Pola
Externí odkaz:
https://doaj.org/article/f0942e8db648405b907a2bf3d49a17f6
Publikováno v:
Indian Journal of Transplantation, Vol 17, Iss 3, Pp 275-278 (2023)
Molecular testing, including apolipoprotein L1 (APOL1) sequencing, has recently become more accessible for use in the clinical setting. Although there is a strong association between APOL1 and kidney disease, only a small minority of African American
Externí odkaz:
https://doaj.org/article/a5c6c09c65874cf287ccf9efc1e18b9d
Akademický článek
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Publikováno v:
BMC Nephrology, Vol 23, Iss 1, Pp 1-7 (2022)
Abstract Background Plasma triglyceride (TG) levels are a significant risk factor for cardiovascular disease (CVD). The APOA5 gene is one of the crucial factors in plasma TG metabolism regulation. The rs662799 polymorphism in the APOA5 gene has been
Externí odkaz:
https://doaj.org/article/5e557c605f0a4b10afd8c4dd72377ea6
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Publikováno v:
BMC Nephrology, Vol 22, Iss 1, Pp 1-7 (2021)
Abstract Background The low-density lipoprotein receptor (LDLR) plays a significant role in maintaining the cellular cholesterol homeostasis. Mutations in the LDLR gene can lead to a significant rise in plasma LDL levels that may result in an increas
Externí odkaz:
https://doaj.org/article/f27ef35b2d5f4999a71957042f318d03
Autor:
Alma Delia Genis-Mendoza, Yazmín Hernández-Díaz, Thelma Beatriz González-Castro, Carlos Alfonso Tovilla-Zárate, Rosa Giannina Castillo-Avila, María Lilia López-Narváez, Miguel Ángel Ramos-Méndez, Humberto Nicolini
Publikováno v:
Frontiers in Psychiatry, Vol 13 (2022)
ObjectivesWe aimed to examine the association of TPH1 polymorphisms with the risk of suicide behavior (SB).DesignSystematic review and meta-analysis.MethodAll relevant studies that evaluated the association between the A218C (rs1800532), A779C (rs179
Externí odkaz:
https://doaj.org/article/d949bb0bbb454400b1c70270fb5a3f3a
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Immunoglobulin A Deficiency (IgAD) is a polygenic primary immune deficiency, with a strong genetic association to the human leukocyte antigen (HLA) region. Previous genome-wide association studies (GWAS) have identified five non-HLA risk loci (IFIH1,
Externí odkaz:
https://doaj.org/article/9e6417edc18646e18232cd9506a306f8
Autor:
Jonathan Gilley, Oscar Jackson, Menelaos Pipis, Mehrdad A Estiar, Ammar Al-Chalabi, Matt C Danzi, Kristel R van Eijk, Stephen A Goutman, Matthew B Harms, Henry Houlden, Alfredo Iacoangeli, Julia Kaye, Leandro Lima, Queen Square Genomics, John Ravits, Guy A Rouleau, Rebecca Schüle, Jishu Xu, Stephan Züchner, Johnathan Cooper-Knock, Ziv Gan-Or, Mary M Reilly, Michael P Coleman
Publikováno v:
eLife, Vol 10 (2021)
SARM1, a protein with critical NADase activity, is a central executioner in a conserved programme of axon degeneration. We report seven rare missense or in-frame microdeletion human SARM1 variant alleles in patients with amyotrophic lateral sclerosis
Externí odkaz:
https://doaj.org/article/983da56b2cb8455c8e30f44db1e45752
Autor:
Philip Hilz, Reicela Heinrihsone, Lukas Alexander Pätzold, Qi Qi, Genadijs Trofimovics, Linda Gailite, Arvids Irmejs, Janis Gardovskis, Edvins Miklasevics, Zanda Daneberga
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 17, Iss 1, Pp 1-4 (2019)
Abstract Background Large-scale case control studies revealed a number of moderate risk - low frequency breast cancer alleles of the PALB2 and RECQL genes. Some of these were reported as founder variants of Central and Eastern Europe. Based on highly
Externí odkaz:
https://doaj.org/article/13258cb777c2401883c1496e129a5091