Results 71 to 80 of about 11,509,666 (312)

Accurate Whole Human Genome Sequencing using Reversible Terminator Chemistry

open access: yesNature, 2008
DNA sequence information underpins genetic research, enabling discoveries of important biological or medical benefit. Sequencing projects have traditionally used long (400–800 base pair) reads, but the existence of reference sequences for the human and ...
D. Bentley   +193 more
semanticscholar   +1 more source

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

open access: yesFEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz   +11 more
wiley   +1 more source

The Human Genome: An Introduction [PDF]

open access: yesThe Oncologist, 2001
The Oncologist 2001;6:100-109 www.TheOncologist.com Correspondence: Jeroen Aerssens, Ph.D., Department of Pharmacogenomics, Janssen Research Foundation, Turnhoutseweg 30, Beerse B-2340, Belgium. Telephone: 32-14-606146; Fax: 32-14-607162; e-mail: jaerssen@janbe.jnj.com Received September 29, 2000; accepted for publication November 28, 2000.
J, Aerssens   +3 more
openaire   +2 more sources

Generation of Dual-Color FISH probes targeting 9p21, Xp21, and 17p13.1 loci as diagnostic markers for some genetic disorders and cancer in Egypt

open access: yesJournal of Genetic Engineering and Biotechnology
Introduction: The fluorescence in situ hybridization (FISH) is a very important technique, as it can diagnose many genetic disorders and cancers. Molecular cytogenetic analysis (FISH) can diagnose numerical chromosome aberrations, sex chromosomes ...
Amal M. Mohamed   +7 more
doaj   +1 more source

BoostMe accurately predicts DNA methylation values in whole-genome bisulfite sequencing of multiple human tissues

open access: yesBMC Genomics, 2018
Background Bisulfite sequencing is widely employed to study the role of DNA methylation in disease; however, the data suffer from biases due to coverage depth variability.
Luli S. Zou   +8 more
doaj   +1 more source

Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature

open access: yesEgyptian Journal of Medical Human Genetics, 2020
Background Short stature is defined as a body height below the third percentile, based on chronological age, or 2 standard deviations (SD) below the national height standard. The prevalence of short stature is around 2% of children worldwide.
Ola M. Eid   +9 more
doaj   +1 more source

Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome

open access: yesRespiratory Research, 2022
Background HPS-1 is a genetic type of Hermansky-Pudlak syndrome (HPS) with highly penetrant pulmonary fibrosis (HPSPF), a restrictive lung disease that is similar to idiopathic pulmonary fibrosis (IPF).
Shachar Abudi-Sinreich   +13 more
doaj   +1 more source

Epigenetic blind spots – the role of DNA methylation dynamics in stem cell‐based models of embryogenesis

open access: yesFEBS Letters, EarlyView.
Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil   +4 more
wiley   +1 more source

Pre-sequencing assessment of RNA-Seq library quality using real-time qPCR

open access: yesBioTechniques
RNA sequencing (RNA-Seq) is an essential assay for studying transcriptome profiling. Ribosomal RNA (rRNA) comprises more than 80–90% of total cellular RNA; efficient removal is essential for accurately capturing transcriptomes, particularly to sequence ...
Kavya Kottapalli   +13 more
doaj   +1 more source

Biophysical approaches for studying viral entry

open access: yesFEBS Letters, EarlyView.
Viruses infect all living organisms and have been responsible for major epidemics and pandemics. Their ongoing evolutionary battle with host defenses creates a constant need for improved tools to study viral behavior. Advancing methods to probe viral attachment, fusion, and genome release deepen our understanding of how infections begin and support the
Inbar Yosibash, Raya Sorkin
wiley   +1 more source

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