Results 11 to 20 of about 1,645,811 (308)

Mendelian randomization suggests a bidirectional, causal relationship between physical inactivity and adiposity

eLife, 2022
Physical inactivity and increased sedentary time are associated with excess weight gain in observational studies. However, some longitudinal studies indicate reverse causality where weight gain leads to physical inactivity and increased sedentary time ...
Germán D Carrasquilla, Mario García-Ureña, Tove Fall, Thorkild IA Sørensen, Tuomas O Kilpeläinen   +4 more
doaj   +1 more source

Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications. [PDF]

Nat Genet
Duffy Á, Petrazzini BO, Stein D, Park JK, Forrest IS, Gibson K, Vy HM, Chen R, Márquez-Luna C, Mort M, Verbanck M, Schlessinger A, Itan Y, Cooper DN, Rocheleau G, Jordan DM, Do R.   +16 more
europepmc   +3 more sources

Genotoxicity of 22% Carbamide Peroxide Bleaching Agent on Oral Cells using the Micronucleus Technique [PDF]

Journal of Clinical and Diagnostic Research, 2020
Introduction: Several bleaching products and methods were introduced over the last years. However, the consequences of 22% carbamide peroxide on the genetic material of oral mucosal cells is uncertain.
Laís Vargas Bonacina, Carolina do Amaral Vargas, Julia Vanini, Júlia Zandoná, Rodrigo Rohenkohl Silvlva, Carmen Silvlvia Busin, Paula Benetti, João Paulo De Carli   +7 more
doaj   +1 more source

The Opportunities and Challenges of Integrating Population Histories Into Genetic Studies for Diverse Populations: A Motivating Example From Native Hawaiians

Frontiers in Genetics, 2021
There is a well-recognized need to include diverse populations in genetic studies, but several obstacles continue to be prohibitive, including (but are not limited to) the difficulty of recruiting individuals from diverse populations in large numbers and
Charleston W. K. Chiang, Charleston W. K. Chiang   +1 more
doaj   +1 more source

Multivariate adaptive shrinkage improves cross-population transcriptome prediction and association studies in underrepresented populations

HGG Advances, 2023
Summary: Transcriptome prediction models built with data from European-descent individuals are less accurate when applied to different populations because of differences in linkage disequilibrium patterns and allele frequencies.
Daniel S. Araujo, Chris Nguyen, Xiaowei Hu, Anna V. Mikhaylova, Chris Gignoux, Kristin Ardlie, Kent D. Taylor, Peter Durda, Yongmei Liu, George Papanicolaou, Michael H. Cho, Stephen S. Rich, Jerome I. Rotter, Hae Kyung Im, Ani Manichaikul, Heather E. Wheeler   +15 more
doaj   +1 more source

Genetics of human neural tube defects [PDF]

, 2009
Neural tube defects (NTDs) are common, severe congenital malformations whose causation involves multiple genes and environmental factors. Although more than 200 genes are known to cause NTDs in mice, there has been rather limited progress in delineating ...
A. J. Copp, Au, Beaudin, Beaudin, Bennett, Birn, Blom, Boyles, Brody, Brown, Carmichael, Carroll, Carroll, Chen, Chen, Chen, Christensen, Christensen, Cockroft, Copp, Copp, Dalal, Davidson, De Marco, De Marco, Deak, Deak, Detrait, Doudney, Dunlevy, Dunlevy, Elmore, Enaw, Epstein, Estibeiro, Etheridge, Franke, Frosst, Gelineau-van Waes, Gonzalez-Herrera, Gos, Greene, Greene, Greene, Greene, Gustavsson, Gustavsson, Harris, Harris, Jensen, Jensen, Jensen, Jessen, Joosten, Kennedy, Khandelwal, Kibar, Kibar, Kibar, Kibar, King, Kirke, Krasnow, Lakkis, Li, Li, Lorenz, Lu, Lu, Lu, McEwen, Mills, Mitchell, Molloy, Montcouquiol, Murdoch, Murdoch, Murdoch, N. D.E. Greene, Narimatsu, Neumann, O'Leary, O'leary, Okano, P. Stanier, Park, Parker, Parle-McDermott, Parle-McDermott, Qian, Relton, Relton, Scott, Shang, Shaw, Shields, Smithells, Stamm, Stamm, Steegers-Theunissen, Stegmann, Strutt, Strutt, Stumpf, Swanson, Swanson, Ting, Toepoel, Trembath, van der Linden, van der Linden, van der Linden, van der Linden, van der Put, van Straaten, Vanaerts, vandenBerg, Vieira, Volcik, Wallingford, Wang, Watanabe, Wilding, Wilson, Wu, Zhang, Zhu, Zhu, Zhu, Zhu, Zhu, Zohn   +131 more
core   +2 more sources

BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype

Molecular Genetics & Genomic Medicine, 2021
Background Brachydactylies are a group of inherited conditions, characterized mainly by the presence of shortened fingers and toes. Based on the patients’ phenotypes, brachydactylies have been subdivided into 10 subtypes.
Marcin Bednarek, Marek Trybus, Monika Kolanowska, Mateusz Koziej, Beata Kiec‐Wilk, Artur Dobosz, Marta Kotlarek‐Łysakowska, Anna Kubiak‐Dydo, Ewelina Użarowska‐Gąska, Julia Staręga‐Rosłan, Paweł Gaj, Izabela Górzyńska, Katarzyna Serwan, Michał Świerniak, Adam Kot, Krystian Jażdżewski, Anna Wójcicka   +16 more
doaj   +1 more source

Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: Hybrid Posters [PDF]

Eur J Hum Genet
Emil Chteinberg, Gioia Di Stefano, Marion Bonhomme   +2 more
europepmc   +3 more sources

Misinformation, Misrepresentation, and Misuse of Human Behavioral Genetics Research [PDF]

, 2006
Kaplan discusses the limitations of human behavioral genetics studies, highlighting the research limitations inherent in studying humans and the narrow policy and legal applicability of results arising from behavioral genetics ...
Bergman, Karl-Olof, Jonason, Dennis, Milberg, Per   +2 more
core   +2 more sources

Comparative expression analysis of Shox2-deficient embryonic stem cell-derived sinoatrial node-like cells

Stem Cell Research, 2017
The homeodomain transcription factor Shox2 controls the development and function of the native cardiac pacemaker, the sinoatrial node (SAN). Moreover, SHOX2 mutations have been associated with cardiac arrhythmias in humans.
Sandra Hoffmann, Stefanie Schmitteckert, Anne Griesbeck, Hannes Preiss, Simon Sumer, Alexandra Rolletschek, Martin Granzow, Volker Eckstein, Beate Niesler, Gudrun A. Rappold   +9 more
doaj   +1 more source