Results 81 to 90 of about 1,522,500 (352)

Catastrophic disassembly of actin filaments via Mical-mediated oxidation. [PDF]

, 2017
Actin filament assembly and disassembly are vital for cell functions. MICAL Redox enzymes are important post-translational effectors of actin that stereo-specifically oxidize actin's M44 and M47 residues to induce cellular F-actin disassembly.
Ge, Peng, Grintsevich, Elena E, Reisler, Emil, Sawaya, Michael R, Terman, Jonathan R, Yesilyurt, Hunkar Gizem, Zhou, Z Hong   +6 more
core   +3 more sources

Structural dynamics of the plant hormone receptor ETR1 in a native‐like membrane environment

FEBS Letters, EarlyView.
The present study unveils the structural and signaling dynamics of ETR1, a key plant ethylene receptor. Using an optimized nanodisc system and solution NMR, we captured full‐length ETR1 in a native‐like membrane environment. Our findings reveal dynamic domain uncoupling and Cu(I)‐induced rigidification, providing the first evidence of metal‐triggered ...
Moritz Lemke, Nils Alexander Lakomek, Georg Groth   +2 more
wiley   +1 more source

Association of CD40 gene polymorphisms rs1883832 and rs4810485 with familial mediterranean fever in pediatric patients

Romanian Journal of Laboratory Medicine
Familial Mediterranean fever (FMF) is a recessively inherited autoinflammatory disease characterized by a combination of multiple clinical symptoms potentially associated with numerous genetic and non-genetic risk factors.
Binici Mahir, Yücel İlyas, Tekeş Selahattin, Oral Diclehan, Balkan Mahmut, Katar Selahattin   +5 more
doaj   +1 more source

Automation in genotyping of single nucleotide polymorphisms [PDF]

Human Mutation, 2001
Automation for genotyping of single nucleotide polymorphisms (SNPs) can be split into the automation of the sample preparation and the automation of the analysis technology. SNP genotyping methods are reviewed and solutions for their automation discussed. A panacea for SNP genotyping does not exist.
openaire   +3 more sources

A working model for cytoplasmic assembly of H/ACA snoRNPs

FEBS Letters, EarlyView.
Dyskerin is the component of nuclear H/ACA ribonucleoproteins (RNPs) endowed with pseudouridine synthase catalytic activity. Two isoforms of human dyskerin have been characterized: the abundant Iso1, mainly nuclear, and the shorter Iso3, mainly cytoplasmic but occasionally imported into nuclei.
Alberto Angrisani, Maria Furia
wiley   +1 more source

Quantifying single nucleotide variant detection sensitivity in exome sequencing [PDF]

, 2013
BACKGROUND: The targeted capture and sequencing of genomic regions has rapidly demonstrated its utility in genetic studies. Inherent in this technology is considerable heterogeneity of target coverage and this is expected to systematically impact our ...
A McKenna, AJ Coffey, Alison M Meynert, AM Sulonen, Andrew P Jackson, B Lehne, B Timmermann, DN Cooper, E Kalay, H Li, H Li, J Parla, JF Degner, JK Teer, K Fransen, KK Mantripragada, Louise S Bicknell, M Choi, MA Depristo, Martin S Taylor, Matthew E Hurles, MD Mailman, MJ Clark, MN Bainbridge, MW Hahn, R Leinonen, RA Harte, RE Thurman, SB Ng, SB Ng, SB Ng, SS Ajay, The International HapMap 3 Consortium, Y Li, Y Xu   +34 more
core   +1 more source

Highly multiplexed digital PCR assay for simultaneous quantification of variant allele frequencies and copy number alterations of KRAS and GNAS in pancreatic cancer precursors

Molecular Oncology, EarlyView.
Combining melting curve analysis enhances the multiplexing capability of digital PCR. Here, we developed a 14‐plex assay to simultaneously measure single nucleotide mutations and amplifications of KRAS and GNAS, which are common driver genes in pancreatic cancer precursors. This assay accurately quantified variant allele frequencies in clinical samples
Junko Tanaka, Tatsuo Nakagawa, Yusuke Ono, Yoshio Kamura, Takeshi Ishida, Hidemasa Kawabata, Kenji Takahashi, Hiroki Sato, Andrew S. Liss, Yusuke Mizukami, Takahide Yokoi   +10 more
wiley   +1 more source

Associations between brain‐derived neurotrophic factor and cognitive impairment in panic disorder

Brain and Behavior, 2020
Introduction Our study was designed to examine the relationship between Brain‐Derived Neurotrophic Factor (BDNF) genotypes (rs6265, Val66Met), BDNF plasma levels, and cognitive impairment in Chinese patients with panic disorder (PD).
Wenchen Wang, Yuanyuan Liu, Shuqing Luo, Xiaoyun Guo, Xingguang Luo, Yong Zhang   +5 more
doaj   +1 more source

Pharmacogenetics: Role of Single Nucleotide Polymorphisms

, 2019
Genome sequencing methods have basically similar algorithms, although they show a few differences between the platforms. The human genome contains approximately three billion base pairs, and this amount is huge and therefore impossible to sequence at one step. However, this amount is not a problem for developed technology.
YÜCESAN, Emrah, ÖZTEN KANDAŞ, NUR
openaire   +5 more sources

Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

Molecular Oncology, EarlyView.
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser, Florian Krumbach, Eyleen Corrales, Geoffroy Andrieux, Christian Preisinger, Franziska Liss, Alexandra Golzmann, Melanie Boerries, Kerstin Becker, Ruth Knüchel, Stefan Garczyk, Bernhard Lüscher   +11 more
wiley   +1 more source