Results 71 to 80 of about 4,753,986 (376)

It Is Not Carved in Stone—The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies

Journal of Cardiovascular Development and Disease, 2022
(1) Background: In cardiomyopathies, identification of genetic variants is important for the correct diagnosis and impacts family cascade screening. A classification system was published by the American College of Medical Genetics and Genomics (ACMG) in ...
Dominik Sebastian Westphal, Kathrin Pollmann, Christoph Marschall, Annette Wacker-Gussmann, Renate Oberhoffer-Fritz, Karl-Ludwig Laugwitz, Peter Ewert, Cordula Maria Wolf   +7 more
doaj   +1 more source

Carboplatin/taxane-induced gastrointestinal toxicity: a pharmacogenomics study on the SCOTROC1 trial [PDF]

, 2016
Carboplatin/taxane combination is first-line therapy for ovarian cancer. However, patients can encounter treatment delays, impaired quality of life, even death because of chemotherapy-induced gastrointestinal (GI) toxicity.
Brown, R., Glass, S., He, Y.J., Hoskins, J.M., McLeod, H.L., Motsinger-Reif, A., Paul, J., Winham, S.J.   +7 more
core   +1 more source

Revealing the structure of land plant photosystem II: the journey from negative‐stain EM to cryo‐EM

FEBS Letters, EarlyView.
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

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate. [PDF]

, 2019
Cleft lip with/without cleft palate (CLP) is a common craniofacial malformation with complex etiologies, reflecting both genetic and environmental factors. Most of the suspected genetic risk for CLP has yet to be identified. To further classify risk loci
Asrani, Kripa, Marini, Nicholas J, Rine, Jasper, Shaw, Gary M, Yang, Wei   +4 more
core   +2 more sources

Genetic variants associated with subjective well-being, depressive symptoms and neuroticism identified through genome-wide analyses

Nature Genetics, 2016
Very few genetic variants have been associated with depression and neuroticism, likely because of limitations on sample size in previous studies. Subjective well-being, a phenotype that is genetically correlated with both of these traits, has not yet ...
A. Okbay, B. Baselmans, J. De Neve, P. Turley, M. Nivard, M. Fontana, S. Meddens, R. Linnér, C. A. Rietveld, J. Derringer, J. Gratten, James J. Lee, J. Liu, Ronald de Vlaming, T. Ahluwalia, Jadwiga Buchwald, A. Cavadino, A. Frazier-Wood, N. Furlotte, V. Garfield, M. H. Geisel, J. González, S. Haitjema, R. Karlsson, S. W. van der Laan, K. Ladwig, J. Lahti, S. J. van der Lee, P. Lind, Tian Liu, Lindsay K. Matteson, E. Mihailov, Michael B. Miller, C. Minică, I. Nolte, D. Mook-Kanamori, P. J. van der Most, C. Oldmeadow, Yong Qian, O. Raitakari, R. Rawal, A. Realo, R. Rueedi, B. Schmidt, A. Smith, E. Stergiakouli, Toshiko Tanaka, K. Taylor, G. Thorleifsson, J. Wedenoja, J. Wellmann, H. Westra, Sara M. Willems, Wei Zhao, N. Amin, A. Bakshi, S. Bergmann, G. Bjornsdottir, P. Boyle, S. Cherney, S. Cox, G. Davies, O. Davis, Jun Ding, N. Direk, P. Eibich, R. Emeny, G. Fatemifar, J. Faul, L. Ferrucci, A. Forstner, C. Gieger, Richa Gupta, T. Harris, Juliette M. Harris, E. Holliday, J. Hottenga, P. D. De Jager, M. Kaakinen, E. Kajantie, V. Karhunen, I. Kolčić, M. Kumari, L. Launer, L. Franke, Ruifang Li-Gao, D. Liewald, M. Koini, A. Loukola, P. Marques-Vidal, G. Montgomery, M. Mosing, L. Paternoster, A. Pattie, K. Petrovic, L. Pulkki-Råback, L. Quaye, K. Räikkönen, I. Rudan, R. Scott, Jennifer A. Smith, A. Sutin, M. Trzaskowski, A. Vinkhuyzen, Lei Yu, D. Zabaneh, J. Attia, D. Bennett, K. Berger, L. Bertram, D. Boomsma, H. Snieder, Shun-Chiao Chang, F. Cucca, I. Deary, C. V. van Duijn, J. Eriksson, U. Bültmann, E. D. de Geus, P. Groenen, V. Gudnason, T. Hansen, C. Hartman, C. Haworth, C. Hayward, A. Heath, D. Hinds, E. Hyppönen, W. Iacono, M. Järvelin, K. Jöckel, J. Kaprio, S. Kardia, L. Keltikangas-Järvinen, P. Kraft, L. Kubzansky, T. Lehtimäki, P. Magnusson, N. Martin, M. McGue, A. Metspalu, M. Mills, R. de Mutsert, A. Oldehinkel, G. Pasterkamp, N. Pedersen, R. Plomin, O. Polašek, C. Power, S. Rich, F. Rosendaal, H. D. den Ruijter, D. Schlessinger, H. Schmidt, R. Svento, R. Schmidt, B. Alizadeh, T. Sørensen, T. Spector, J. Starr, K. Stefánsson, A. Steptoe, A. Terracciano, U. Thorsteinsdóttir, A. Thurik, N. Timpson, H. Tiemeier, A. Uitterlinden, P. Vollenweider, G. Wagner, D. Weir, Jian Yang, D. Conley, G. Smith, A. Hofman, M. Johannesson, David Laibson, S. Medland, M. Meyer, Joseph K. Pickrell, T. Esko, R. Krueger, J. Beauchamp, P. Koellinger, D. Benjamin, M. Bartels, D. Cesarini   +186 more
semanticscholar   +1 more source

RAD50 missense variants differentially affect the DNA damage response and mitotic progression

FEBS Letters, EarlyView.
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, Swantje Kebel, Lea Völkening, Anna Vatselia, Louisa Weinhold, Girmay Asgedom, Axel Schambach, Detlev Schindler, Thilo Dörk, Kristine Bousset   +9 more
wiley   +1 more source

Phenotypic complexity, measurement bias, and poor phenotypic resolution contribute to the missing heritability problem in genetic association studies. [PDF]

PLoS ONE, 2010
BackgroundThe variance explained by genetic variants as identified in (genome-wide) genetic association studies is typically small compared to family-based heritability estimates. Explanations of this 'missing heritability' have been mainly genetic, such
Sophie van der Sluis, Matthijs Verhage, Danielle Posthuma, Conor V Dolan   +3 more
doaj   +1 more source

Large-scale gene-centric analysis identifies novel variants for coronary artery disease [PDF]

, 2011
Coronary artery disease (CAD) has a significant genetic contribution that is incompletely characterized. To complement genome-wide association (GWA) studies, we conducted a large and systematic candidate gene study of CAD susceptibility, including ...
Strawbridge, Rona, The IBC 50K CAD Consortium,   +1 more
core   +1 more source

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
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, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

An Efficient Stepwise Statistical Test to Identify Multiple Linked Human Genetic Variants Associated with Specific Phenotypic Traits.

PLoS ONE, 2015
Recent advances in genotyping methodologies have allowed genome-wide association studies (GWAS) to accurately identify genetic variants that associate with common or pathological complex traits. Although most GWAS have focused on associations with single
Iksoo Huh, Min-Seok Kwon, Taesung Park
doaj   +1 more source