Results 61 to 70 of about 475,380 (299)

By dawn or dusk—how circadian timing rewrites bacterial infection outcomes

FEBS Letters, EarlyView.
The circadian clock shapes immune function, yet its influence on infection outcomes is only beginning to be understood. This review highlights how circadian timing alters host responses to the bacterial pathogens Salmonella enterica, Listeria monocytogenes, and Streptococcus pneumoniae revealing that the effectiveness of immune defense depends not only
Devons Mo, Catherine S. Palmer, Jacqueline M. Kimmey   +2 more
wiley   +1 more source

Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior. [PDF]

PLoS ONE, 2016
Copy number variants (CNVs) were detected and analyzed in 14 probands with autism and intellectual disability with self-injurious behavior (SIB) resulting in tissue damage.
Matthew D Shirley, Laurence Frelin, José Soria López, Anne Jedlicka, Amanda Dziedzic, Michelle A Frank-Crawford, Wayne Silverman, Louis Hagopian, Jonathan Pevsner   +8 more
doaj   +1 more source

Rare Copy Number Variants Are Associated With Poorer Cognition in Schizophrenia.

Biological Psychiatry, 2020
BACKGROUND Cognitive impairment in schizophrenia is a major contributor to poor outcomes, yet its causes are poorly understood. Some rare copy number variants (CNVs) are associated with schizophrenia risk and affect cognition in healthy populations, but ...
L. Hubbard, E. Rees, D. Morris, A. Lynham, A. Richards, A. Pardiñas, S. Legge, D. Harold, S. Zammit, A. Corvin, M. Gill, J. Hall, P. Holmans, M. O’Donovan, M. Owen, G. Donohoe, G. Kirov, A. Pocklington, J. Walters   +18 more
semanticscholar   +1 more source

The role and implications of mammalian cellular circadian entrainment

FEBS Letters, EarlyView.
At their most fundamental level, mammalian circadian rhythms occur inside every individual cell. To tell the correct time, cells must align (or ‘entrain’) their circadian rhythm to the external environment. In this review, we highlight how cells entrain to the major circadian cues of light, feeding and temperature, and the implications this has for our
Priya Crosby
wiley   +1 more source

A computational framework discovers new copy number variants with functional importance. [PDF]

PLoS ONE, 2011
Structural variants which cause changes in copy numbers constitute an important component of genomic variability. They account for 0.7% of genomic differences in two individual genomes, of which copy number variants (CNVs) are the largest component.
Samprit Banerjee, Derek Oldridge, Maria Poptsova, Wasay M Hussain, Dimple Chakravarty, Francesca Demichelis   +5 more
doaj   +1 more source

From Rare Copy Number Variants to Biological Processes in ADHD.

American Journal of Psychiatry, 2020
OBJECTIVE Attention deficit hyperactivity disorder (ADHD) is a highly heritable psychiatric disorder. The objective of this study was to define ADHD-associated candidate genes and their associated molecular modules and biological themes, based on the ...
Benjamin Harich, M. van der Voet, M. Klein, Pavel Cizek, Michaela Fenckova, A. Schenck, B. Franke   +6 more
semanticscholar   +1 more source

Disordered but rhythmic—the role of intrinsic protein disorder in eukaryotic circadian timing

FEBS Letters, EarlyView.
Unstructured domains known as intrinsically disordered regions (IDRs) are present in nearly every part of the eukaryotic core circadian oscillator. IDRs enable many diverse inter‐ and intramolecular interactions that support clock function. IDR conformations are highly tunable by post‐translational modifications and environmental conditions, which ...
Emery T. Usher, Jacqueline F. Pelham
wiley   +1 more source

CNValidatron: accurate and efficient validation of PennCNV calls using computer vision

BMC Bioinformatics
Background Large, rare copy number variants (CNVs) are a main source of genetic variation in the genome and are important in both evolution and disease risk.
Simone Montalbano, G. Bragi Walters, Gudbjorn F. Jonsson, Jesper R. Gådin, Thomas Werge, Daniel F. Gudbjartsson, Hreinn Stefansson, Andrés Ingason   +7 more
doaj   +1 more source

Evaluation of D-loop hypervariable region I variations, haplogroups and copy number of mitochondrial DNA in Bangladeshi population with type 2 diabetes

Heliyon, 2021
The profound impact of mitochondrion in cellular metabolism has been well documented. Since type 2 diabetes (T2D) is a metabolic disorder, mitochondrial dysfunction is intricately linked with the disease pathogenesis.
Sajoy Kanti Saha, Abdullah Al Saba, Md. Hasib, Razoan Al Rimon, Imrul Hasan, Md. Sohrab Alam, Ishtiaq Mahmud, A.H.M. Nurun Nabi   +7 more
doaj   +1 more source

Selection signatures in goats reveal copy number variants underlying breed-defining coat color phenotypes

PLoS Genetics, 2019
Domestication and human selection have formed diverse goat breeds with characteristic phenotypes. This process correlated with the fixation of causative genetic variants controlling breed-specific traits within regions of reduced genetic diversity, so ...
J. Henkel, R. Saif, V. Jagannathan, Corinne Schmocker, Flurina Zeindler, Erika Bangerter, Ursula Herren, D. Posantzis, Zafer Bulut, P. Ammann, C. Drögemüller, C. Flury, T. Leeb   +12 more
semanticscholar   +1 more source