Results 101 to 110 of about 4,753,986 (376)

Rad27/FEN1 prevents accumulation of Okazaki fragments and ribosomal DNA copy number changes

FEBS Letters, EarlyView.
The budding yeast Rad27 is a structure‐specific endonuclease. Here, the authors reveal that Rad27 is crucial for maintaining the stability of the ribosomal RNA gene (rDNA) region. Rad27 deficiency leads to the accumulation of Okazaki fragments and changes in rDNA copy number.
Tsugumi Yamaji, Yuko Katayama, Nanase Arata, Mariko Sasaki   +3 more
wiley   +1 more source

A Strategy analysis for genetic association studies with known inbreeding [PDF]

, 2011
Background: Association studies consist in identifying the genetic variants which are related to a specific disease through the use of statistical multiple hypothesis testing or segregation analysis in pedigrees.
Bertolino, Francesco, Biino, Ginevra, Cabras, Stefano, Castellanos, Maria Eugenia, Casula, Laura, Del Giacco, Stefano, Persico, Ivana, Pirastu, Mario, Pirastu, Nicola, Sassu, Alessandro   +9 more
core   +4 more sources

Is HSD17B13 Genetic Variant a Protector for Liver Dysfunction? Future Perspective as a Potential Therapeutic Target [PDF]

, 2021
Takashi Motomura, Sriram Amirneni, Ricardo Díaz‐Aragon, Lanuza A.P. Faccioli, Michelle R. Malizio, Michael C. Coard, Zehra N. Kocas‐Kilicarslan, Carla Frau, Nils Haep, Alina Ostrowska, Rodrigo Florentino, Alejandro Soto–Gutiérrez   +11 more
openalex   +1 more source

Pooled Association Tests for Rare Genetic Variants: A Review and Some New Results

, 2014
In the search for genetic factors that are associated with complex heritable human traits, considerable attention is now being focused on rare variants that individually have small effects.
Derkach, Andriy, Lawless, Jerry F., Sun, Lei   +2 more
core   +1 more source

Kevlar: A Mapping-Free Framework for Accurate Discovery of De Novo Variants. [PDF]

, 2019
De novo genetic variants are an important source of causative variation in complex genetic disorders. Many methods for variant discovery rely on mapping reads to a reference genome, detecting numerous inherited variants irrelevant to the phenotype of ...
Brown, C Titus, Hormozdiari, Fereydoun, Standage, Daniel S   +2 more
core   +1 more source

Brain age estimation at tract group level and its association with daily life measures, cardiac risk factors and genetic variants [PDF]

, 2021
Ahmed Salih, Ilaria Boscolo Galazzo, Zahra Raisi‐Estabragh, Elisa Rauseo, Polyxeni Gkontra, Steffen E. Petersen, Karim Lekadir, André Altmann, Petia Radeva, Gloria Menegaz   +9 more
openalex   +1 more source

Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors

Journal of the American Medical Association (JAMA), 2018
Importance Body fat distribution, usually measured using waist-to-hip ratio (WHR), is an important contributor to cardiometabolic disease independent of body mass index (BMI).
L. Lotta, L. Wittemans, V. Zuber, I. Stewart, S. Sharp, J. Luan, F. Day, Chen Li, N. Bowker, Lina Cai, E. De Lucia Rolfe, K. Khaw, J. Perry, S. O’Rahilly, R. Scott, D. Savage, S. Burgess, N. Wareham, C. Langenberg   +18 more
semanticscholar   +1 more source

Mitochondrial fatty acid oxidation is stimulated by red light irradiation

FEBS Letters, EarlyView.
Light at different wavelengths has distinct effects on keratinocyte viability and metabolism. UVA light abrogates metabolic fluxes. Blue and green light have no effect on metabolic fluxes, while red light enhanced oxidative phosphorylation by promoting fatty acid oxidation. Keratinocytes are the primary constituents of sunlight‐exposed epidermis.
Manuel Alejandro Herrera, Camille C. Caldeira da Silva, Maiza Von Dentz, Mauricio S. Baptista, Alicia J. Kowaltowski   +4 more
wiley   +1 more source

Improvement of variant reclassification in genetic neurodevelopmental conditions

Genetics in Medicine Open
Purpose: Limited knowledge about disease mechanisms, few published cases, and the lack of functional assessment of variants for neurodevelopmental genetic disorders challenge diagnostic classification for variants and increase the frequency of variants ...
Michelle Kowanda, Rebecca Sheedy Smith, Jamie Lundy, Catherine Kentros, Elisheva Kleinman, Lauren Kasparson Walsh, Gerhard Schratt, Cora M. Taylor, Wendy K. Chung   +8 more
doaj   +1 more source

Presymptomatic risk assessment for chronic non-communicable diseases [PDF]

, 2010
The prevalence of common chronic non-communicable diseases (CNCDs) far overshadows the prevalence of both monogenic and infectious diseases combined. All CNCDs, also called complex genetic diseases, have a heritable genetic component that can be used for
AC Morrison, AJ MacGregor, AS Daar, Badri Padhukasahasram, C Kyogoku, C Tysk, CG Loftus, D Bentley, Daryl J. Thomas, DE Reich, Dietrich A. Stephan, E Zeggini, EF Remmers, Elana Silver, Eran Halperin, Heather Trumbower, JC Barrett, Jennifer Wessel, JK Pritchard, JM Chan, JT Salonen, KM Narayan, KM Small, LB Lusted, LJ Scott, MF Doran, Michele Cargill, MS Sandhu, NR Wray, O Kempthorne, Q Lu, Q Yang, R King, S Kathiresan, Thorkild I. A. Sorensen   +34 more
core   +4 more sources