Results 101 to 110 of about 234,936 (321)

STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci

open access: yesGenome Medicine
Approximately 8% of the human genome consists of repetitive elements called tandem repeats (TRs): short tandem repeats (STRs) of 1–6 bp motifs and variable number tandem repeats (VNTRs) of 7 + bp motifs.
Laurel Hiatt   +9 more
doaj   +1 more source

Genome maps across 26 human populations reveal population-specific patterns of structural variation. [PDF]

open access: yes, 2019
Large structural variants (SVs) in the human genome are difficult to detect and study by conventional sequencing technologies. With long-range genome analysis platforms, such as optical mapping, one can identify large SVs (>2 kb) across the genome in ...
Cao, Han   +25 more
core   +2 more sources

Cis‐regulatory and long noncoding RNA alterations in breast cancer – current insights, biomarker utility, and the critical need for functional validation

open access: yesMolecular Oncology, EarlyView.
The noncoding region of the genome plays a key role in regulating gene expression, and mutations within these regions are capable of altering it. Researchers have identified multiple functional noncoding mutations associated with increased cancer risk in the genome of breast cancer patients.
Arnau Cuy Saqués   +3 more
wiley   +1 more source

SINE-derived satellites in scaled reptiles

open access: yesMobile DNA, 2023
Background The genomes of many eukaryotes contain DNA repeats in the form of both tandem and interspersed elements with distinct structure, evolutionary histories, and mechanisms of emergence and amplification.
Nikita S. Vassetzky   +2 more
doaj   +1 more source

NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY [PDF]

open access: yes, 2010
Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder.
Ardiansyah, Rivaldi
core  

ATF4‐mediated stress response as a therapeutic vulnerability in chordoma

open access: yesMolecular Oncology, EarlyView.
We screened 5 chordoma cell lines against 100+ inhibitors of epigenetic and metabolic pathways and kinases and identified halofuginone, a tRNA synthetase inhibitor. Mechanistically halofuginone induces an integrated stress response, with eIF2alpha phosphorylation, activation of ATF4 and its target genes CHOP, ASNS, INHBE leading to cell death ...
Lucia Cottone   +11 more
wiley   +1 more source

Implications for the use of horse hair roots as a DNA source for microsatellite typing

open access: yesCzech Journal of Animal Science, 2005
Hair roots are a very attractive source of DNA for microsatellite-based parentage control of breeding animals. However, unlike blood samples, irregular DNA typing results have been observed in assays utilizing hair follicles.
T. Ząbek, A. Radko, E. Słota
doaj   +1 more source

Polymerase-endonuclease amplification reaction for large-scale enzymatic production of antisense oligonucleotide [PDF]

open access: yes, 2009
Synthetic oligonucleotides are contaminated with highly homologous failure sequences. Oligonucleotide synthesis is difficult to scale up because it requires expensive equipments, hazardous chemicals, and tedious purification process.
Deming Gou, Xiaolong Wang
core   +1 more source

The Sorghum bicolor reference genome: improved assembly, gene annotations, a transcriptome atlas, and signatures of genome organization. [PDF]

open access: yes, 2017
Sorghum bicolor is a drought tolerant C4 grass used for the production of grain, forage, sugar, and lignocellulosic biomass and a genetic model for C4 grasses due to its relatively small genome (approximately 800 Mbp), diploid genetics, diverse ...
Amirebrahimi, Mojgan   +14 more
core   +2 more sources

Developing evidence‐based, cost‐effective P4 cancer medicine for driving innovation in prevention, therapeutics, patient care and reducing healthcare inequalities

open access: yesMolecular Oncology, EarlyView.
The cancer problem is increasing globally with projections up to the year 2050 showing unfavourable outcomes in terms of incidence and cancer‐related deaths. The main challenges are prevention, improved therapeutics resulting in increased cure rates and enhanced health‐related quality of life.
Ulrik Ringborg   +43 more
wiley   +1 more source

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