Results 21 to 30 of about 12,192,107 (344)

Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia

Journal of Biochemical and Clinical Genetics, 2021
Background: There is a high rate of consanguinity and related genetic diseases in the general population of Saudi Arabia. Studies have been conducted to address the level of awareness about consanguineous marriages (CM); however, targeted young female ...
Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam   +7 more
doaj   +1 more source

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

Assessing the knowledge and awareness of the Taif community about genetic diseases

Journal of Biochemical and Clinical Genetics, 2022
Background: Diseases have a genetic basis, wherein changes in the human deoxyribonucleic acid and variances in its activities, which the environment may influence, contribute to disease processes.
Ghaliah Alnefaie, Atheer Alfuhayd, Majed Bahader, Razan Alhumyani, Abdulhameed Sarriyah, Atheer Alshanbari, Kholood Althobaiti   +6 more
doaj   +1 more source

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

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, Zornitza Stark, L. Farnaes, T. Tan, S. White, D. Dimmock, S. Kingsmore   +6 more
semanticscholar   +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

Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin

Biomedicines, 2022
Protein mutations may lead to pathologies by causing protein misfunction or propensity to degradation. For this reason, several studies have been performed over the years to determine the capability of proteins to retain their native conformation under ...
Rita Puglisi
doaj   +1 more source

Fabry disease, do we think enough about this multisystemic disorder?: A presentation of three cases in a Serbian family [PDF]

Vojnosanitetski Pregled, 2012
Background. Fabry Disease is a rare, X-chromosomal inherited lysosomal storage disease with a consequent intracellular accumulation of neutral glycosphingolipids in various tissues.
Sakač Dejan, Koraćević Goran, Pavlica Tatjana, Sekulić Slobodan   +3 more
doaj   +1 more source

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