Results 51 to 60 of about 314,830 (333)

Catastrophic chromosomal restructuring during genome elimination in plants. [PDF]

, 2015
Genome instability is associated with mitotic errors and cancer. This phenomenon can lead to deleterious rearrangements, but also genetic novelty, and many questions regarding its genesis, fate and evolutionary role remain unanswered.
Bradnam, Keith R, Chan, Simon Wl, Comai, Luca, Henry, Isabelle M, Korf, Ian, Lysak, Martin A, Mandakova, Terezie, Marimuthu, Mohan Pa, Ravi, Maruthachalam, Tan, Ek Han   +9 more
core   +1 more source

Genome-wide association studies of the self-rating of effects of ethanol (SRE). [PDF]

, 2020
The level of response (LR) to alcohol as measured with the Self-Report of the Effects of Alcohol Retrospective Questionnaire (SRE) evaluates the number of standard drinks usually required for up to four effects. The need for a higher number of drinks for
Agrawal, Arpana, Dick, Danielle, Edenberg, Howard J, Farris, Sean, Foroud, Tatiana, Goate, Alison, Goldman, David, Hesselbrock, Victor, Johnson, Emma C, Joslyn, Geoff, Kapoor, Manav, Kramer, John, Lai, Dongbing, Liu, Yunlong, Mayfield, R Dayne, McCutcheon, Vivia V, Nurnberger, John, Porjesz, Bernice, Ramchandani, Vijay A, Rao, Xi, Schuckit, Marc, Schwandt, Melanie, Tischfield, Jay, Wetherill, Leah   +23 more
core   +2 more sources

B cell mechanobiology in health and disease: emerging techniques and insights into therapeutic responses

FEBS Letters, EarlyView.
B cells sense external mechanical forces and convert them into biochemical signals through mechanotransduction. Understanding how malignant B cells respond to physical stimuli represents a groundbreaking area of research. This review examines the key mechano‐related molecules and pathways in B lymphocytes, highlights the most relevant techniques to ...
Marta Sampietro, Marco Cellani, Cristina Scielzo   +2 more
wiley   +1 more source

Chromosome 15 Imprinting Disorders: Genetic Laboratory Methodology and Approaches

Frontiers in Pediatrics, 2020
Chromosome 15 imprinting disorders include Prader-Willi (PWS) and Angelman (AS) syndromes, which are caused by absent expression from the paternal and maternal alleles in the chromosome 15q11. 2–q13 region, respectively.
Merlin G. Butler, Jessica Duis
doaj   +1 more source

P‐glycoprotein modulates the fluidity gradient of the plasma membrane of multidrug resistant CHO cells

FEBS Letters, EarlyView.
To explore the impact of the overexpression of the multidrug‐transporter P‐glycoprotein (ABCB1) on membrane fluidity, we compared the transversal gradient of mobility and microviscosity in plasma membranes of drug‐sensitive Chinese hamster ovary cells (AuxB1) and their multidrug‐resistant derivatives (B30) using the fluorescent n‐(9‐anthroyloxy) fatty ...
Roger Busche, John R. Riordan, Burkhard Tümmler   +2 more
wiley   +1 more source

A novel analytical framework for dissecting the genetic architecture of behavioral symptoms in neuropsychiatric disorders. [PDF]

PLoS ONE, 2010
For diagnosis of neuropsychiatric disorders, a categorical classification system is often utilized as a simple way for conceptualizing an often complex clinical picture.
Anthony J Deo, Ramiro Costa, Lynn E DeLisi, Rob DeSalle, Fatemeh Haghighi   +4 more
doaj   +1 more source

Evolutionary interplay between viruses and R‐loops

FEBS Letters, EarlyView.
Viruses interact with specialized nucleic acid structures called R‐loops to influence host transcription, epigenetic states, latency, and immune evasion. This Perspective examines the roles of R‐loops in viral replication, integration, and silencing, and how viruses co‐opt or avoid these structures.
Zsolt Karányi, Zita Képes, Zoltán Szabó, Eszter Csoma, Lóránt Székvölgyi   +4 more
wiley   +1 more source

Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study

Genetics in Medicine Open, 2023
Purpose: Structural mosaicism has been previously implicated in developmental disorders. We aimed to identify rare mosaic chromosomal alterations (MCAs) in probands with severe undiagnosed developmental disorders.
Ruth Y. Eberhardt, Caroline F. Wright, David R. FitzPatrick, Matthew E. Hurles, Helen V. Firth   +4 more
doaj  

A comprehensive and universal approach for embryo testing in patients with different genetic disorders

Clinical and Translational Medicine, 2021
Background In vitro fertilization (IVF) with preimplantation genetic testing (PGT) has markedly improved clinical pregnancy outcomes for carriers of gene mutations or chromosomal structural rearrangements by the selection of embryos free of disease ...
Shuo Zhang, Caixia Lei, Junping Wu, Min Xiao, Jing Zhou, Saijuan Zhu, Jing Fu, Daru Lu, Xiaoxi Sun, Congjian Xu   +9 more
doaj   +1 more source

Quantifying the resolution of spatial and temporal representation in children with 22q11.2 deletion syndrome. [PDF]

, 2019
ObjectivesOur ability to generate mental representation of magnitude from sensory information affects how we perceive and experience the world. Reduced resolution of the mental representations formed from sensory inputs may generate impairment in the ...
Amato, Michele, Cabaral, Margarita H, Cruz, Joshua, Durdle, Courtney, Harvey, Danielle, McCabe, Kathryn L, Popa, Abbie M, Simon, Tony J, Tartaglia, Nicole, Wong, Ling M   +9 more
core   +1 more source