Validation in Genetic Association Studies [PDF]
Validation of genetic associations is understood to be a cornerstone for the scientific credibility of the results. To approach this topic, the general concept of genetic association studies is introduced briefly, followed by how the term 'validation' is used in the context of genetic association studies.
openaire +3 more sources
Genetic Control of the Immune Response in Mice. III. An Association between H-2 Type and Reaction to H-Y [PDF]
David L. Gasser, Willys K. Silvers
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Cancer cell death induced by the NAD antimetabolite Vacor discloses the antitumor potential of SARM1
Vacor, a compound converted into the toxic metabolite Vacor adenine dinucleotide (VAD) by the nicotinamide salvage pathway enzymes NAMPT and NMNAT2, exhibits antitumor activity by inducing rapid and complete NAD depletion. We report that Vacor toxicity is limited to cell lines expressing high levels of SARM1, a NAD glycohydrolase.
Giuseppe Ranieri +5 more
wiley +1 more source
An association between genetic variants in the vitamin D receptor (VDR) gene and epithelial ovarian cancer (EOC) was previously reported in women of African ancestry (AA).
Delores J. Grant +89 more
doaj +1 more source
Hereditary C2 deficiency: Genetic studies and association with the HL-A system. [PDF]
N K Day +6 more
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Revealing the structure of land plant photosystem II: the journey from negative‐stain EM to cryo‐EM
Advances in cryo‐EM have revealed the detailed structure of Photosystem II, a key protein complex driving photosynthesis. This review traces the journey from early low‐resolution images to high‐resolution models, highlighting how these discoveries deepen our understanding of light harvesting and energy conversion in plants.
Roman Kouřil
wiley +1 more source
Genetic associations of glaucoma. [PDF]
Tavistock Square, Wc H, London
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Genetic Association in Myocardial Infarction: Ethnicity; ABO, Rh, Lea, Xga Blood Groups; G6PD Deficiency; and Abnormal Haemoglobins [PDF]
N. Saha, C. C. S. Toh, Mahua Ghosh
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RAD50 missense variants differentially affect the DNA damage response and mitotic progression
RAD50 incorporates into the MRN complex and initiates the DNA damage response. Furthermore, RAD50 promotes mitotic progression. RAD50 missense variants capable of forming an MRN complex supported the DNA damage response and mitotic features to different extents in complementation experiments, indicating these functions are separable and might impact ...
Hanna Redeker +9 more
wiley +1 more source
Mapping the evolution of mitochondrial complex I through structural variation
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin +2 more
wiley +1 more source

