Results 31 to 40 of about 11,828,008 (230)

Cracking the Monoubiquitin Code of Genetic Diseases

International Journal of Molecular Sciences, 2020
Ubiquitination is a versatile and dynamic post-translational modification in which single ubiquitin molecules or polyubiquitin chains are attached to target proteins, giving rise to mono- or poly-ubiquitination, respectively.
R. Sewduth, M. Baietti, A. Sablina
semanticscholar   +1 more source

Modeling and Testing for Joint Association Using a Genetic Random Field Model [PDF]

, 2014
Substantial progress has been made in identifying single genetic variants predisposing to common complex diseases. Nonetheless, the genetic etiology of human diseases remains largely unknown.
Adler, Ballard, Besag, Besag, Browning, Burridge, Chatterjee, Cliff, Cressie, Davies, De Iorio, Gauderman, Gotze, Laird, Manolio, Molitor, Molitor, Price, Ritchie, Romeo, Rotar, Thomas, Tzeng, Wu, Wu   +24 more
core   +2 more sources

A sensitive mass spectrometry platform identifies metabolic changes of life history traits in C. elegans

Scientific Reports, 2017
Abnormal nutrient metabolism is a hallmark of aging, and the underlying genetic and nutritional framework is rapidly being uncovered, particularly using C. elegans as a model. However, the direct metabolic consequences of perturbations in life history of
Arwen W. Gao, Iliana A. Chatzispyrou, Rashmi Kamble, Yasmine J. Liu, Katharina Herzog, Reuben L. Smith, Henk van Lenthe, Martin A. T. Vervaart, Arno van Cruchten, Angela C. Luyf, Antoine van Kampen, Mia L. Pras-Raves, Frédéric M. Vaz, Riekelt H. Houtkooper   +13 more
doaj   +1 more source

Genetic Diseases of the Kennedy Pathway for Phospholipid Synthesis.

Journal of Biological Chemistry, 2020
The two branches of the Kennedy pathways (CDP-choline and CDP-ethanolamine) are the predominant pathways responsible for the synthesis of the most abundant phospholipids, phosphatidylcholine and phosphatidylethanolamine, respectively, in mammalian ...
M. Tavasoli, Sarah Lahire, Taryn R. Reid, M. Brodovsky, C. McMaster   +4 more
semanticscholar   +1 more source

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

npj Genomic Medicine, 2018
Genetic diseases are leading causes of childhood mortality. Whole-genome sequencing (WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing genetic diseases, whereas chromosomal microarray (CMA) is well established.
Michelle M. Clark, Z. Stark, L. Farnaes, T. Tan, S. White, D. Dimmock, S. Kingsmore   +6 more
semanticscholar   +1 more source

Kinetoplastids:related protozoan pathogens, different diseases [PDF]

, 2008
Kinetoplastids are a group of flagellated protozoans that include the species Trypanosoma and Leishmania, which are human pathogens with devastating health and economic effects. The sequencing of the genomes of some of these species has highlighted their
Agranoff, Alan Fairlamb, Albrecht, Ambroise-Thomas, Andrade, Armijos, Atwood, Avila, Balana-Fouce, Benchimol Barbosa, Bern, Berriman, Bhattacharya, Bhattacharya, Bisser, Brun, Burleigh, Burns, Burri, Campos-Neto, Castro, Chava, Cohen, Coler, Coler, Coler, Combs, Croft, da Costa, de Castro, De Luca, de Macedo, Deborggraeve, Deng, Denkers, Dias, Doyle, Eastman, El Kouni, El-Sayed, Engel, Engers, Enserink, Ferguson, Frearson, Genaro, Ghalib, Ghalib, Gorczynski, Grazia, Grevelink, Guler, Gurtler, Gurtler, Gurtler, Gürtler, Hammarton, Hawn, Heby, Hopkins, Houghton, Jim McKerrow, Jones, Ken Stuart, Kgori, Khalil, Khalil, Krauth-Siegel, Kroeger, Kropf, Launois, Lee, Lejon, Lohoff, Magnus, Marsden, Marth, Martin, Mayrink, Mazurek, McConville, Molina, Nare, Nwaka, Nylen, Olliaro, Opperdoes, Ouellette, Panethymitaki, Picollo, Pirard, Radwanska, Radwanska, Ramesh, Reed, Reed, Reiner, Reithinger, Reithinger, Renslo, Reto Brun, Ricardo E. Gürtler, Rick Tarleton, Sadeghian, Scharton-Kersten, Schmid, Schnaufer, Simon Croft, Skeiky, Sosa, Soto, Steve Reed, Stuart, Sundar, Sundar, Tarleton, Tarleton, Tarleton, Thakur, Torr, Urbina, Viotti, Viotti, Welburn, Werbovetz, Xong, Young, Zijlstra   +127 more
core   +3 more sources

Familial dysbetalipoproteinemia: highly atherogenic and underdiagnosed disorder

Кардиоваскулярная терапия и профилактика, 2021
Familial dysbetalipoproteinemia (FD) is a genetic, highly atherogenic disorder. The penetrance of FD depends on the patient’s lifestyle and concomitant diseases. Despite the fact that FD was described almost half a century ago, it is still insufficiently
A. V. Blokhina, A. I. Ershova, A. N. Meshkov, O. M. Drapkina   +3 more
doaj   +1 more source

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

Science Translational Medicine, 2019
Automated phenotyping and interpretation of rapid whole-genome sequencing improve time to diagnosis of genetic diseases in hospitalized children. A streamlined genetic diagnosis pipeline When treating seriously ill children, time is of the essence. Clark
Michelle M. Clark, Amber Hildreth, Serge Batalov, Yan Ding, S. Chowdhury, K. Watkins, Katarzyna A Ellsworth, Brandon Camp, C. Kint, C. Yacoubian, L. Farnaes, M. Bainbridge, Curtis Beebe, Joshua J. A. Braun, Margaret Bray, Jeanne Carroll, Julie A. Cakici, Sara A. Caylor, C. Clarke, Mitchell P. Creed, J. Friedman, A. Frith, Richard Gain, Mary Gaughran, Shauna George, S. Gilmer, J. Gleeson, Jeremy Gore, Haiying Grunenwald, Raymond L Hovey, Marie L Janes, Kejia Lin, P. McDonagh, K. McBride, Patrick Mulrooney, S. Nahas, D. Oh, A. Oriol, L. Puckett, Z. Rady, M. G. Reese, J. Ryu, Lisa Salz, E. Sanford, Lawrence Stewart, Nathaly M. Sweeney, M. Tokita, L. Van Der Kraan, S. White, Kristen M Wigby, Brett Williams, Terence Wong, M. Wright, Catherine Yamada, P. Schols, J. Reynders, K. Hall, D. Dimmock, N. Veeraraghavan, Thomas Defay, S. Kingsmore   +60 more
semanticscholar   +1 more source

Network-assisted analysis of GWAS data identifies a functionally-relevant gene module for childhood-onset asthma

Scientific Reports, 2017
The number of genetic factors associated with asthma remains limited. To identify new genes with an undetected individual effect but collectively influencing asthma risk, we conducted a network-assisted analysis that integrates outcomes of genome-wide ...
Y. Liu, M. Brossard, C. Sarnowski, A. Vaysse, M. Moffatt, P. Margaritte-Jeannin, F. Llinares-López, M. H. Dizier, M. Lathrop, W. Cookson, E. Bouzigon, F. Demenais   +11 more
doaj   +1 more source

Known allosteric proteins have central roles in genetic disease [PDF]

, 2021
Allostery is a form of protein regulation, where ligands that bind sites located apart from the active site can modify the activity of the protein. The molecular mechanisms of allostery have been extensively studied, because allosteric sites are less conserved than active sites, and drugs targeting them are more specific than drugs binding the active ...
arxiv   +1 more source