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Examples of Allele

Sentences with the noun Allele

4 examples:

Here we have generated an epitope-tagged, functional Wnt3 knock-in allele.
(Nature, )

The hybrid allele is associated with approximately fivefold-higher risk of disease, and it encodes a protein with reduced lipolytic activity and prominent intracellular accumulation.
(Nature Genetics, )

Mutations disabling the TP53 tumour suppressor gene represent the most frequent events in human cancer and typically occur through a two-hit mechanism involving a missense mutation in one allele and a ‘loss of heterozygosity’ deletion encompassing the other.
(Nature, )

A goal in the treatment of Huntington disease, an autosomal dominant disorder caused by a gain-of-function mutation in one allele of the huntingtin (HTT) gene, is to inactivate the harmful mutant allele without affecting the normal version that is required for cell integrity.
(Nature Reviews Genetics, )

Other sentences

61 examples:

V127 was seen exclusively on a M129 PRNP allele.
(Nature, )

The traditional approach of elucidating disease allele function involves detailed investigation.
(Nature Reviews Clinical Oncology, )

They identify allelic imbalance favoring the expression of the paternal allele across the genome.
(Nature Genetics, )

In the legend and colour key to Fig. 1b, the allele identity (‘a’ and ‘b’) is inadvertently reversed.
(Nature, )

Nature494, 5559 (2013); doi: 10.1038/nature11865In this Article, there were two errors in allele assignments.
(Nature, )

The wild-type allele of Kras has been shown to act as a tumour suppressor in mouse models of non-small-cell lung cancer.
(Nature, )

Importantly, these phenotypes were only observed with a wild-type p53 allele, as p5325,26,53,54/− embryos were fully viable.
(Nature, )

Researchers explored the possibility that GVHD risk is correlated with the rs9277534 allele and HLA-DPB1 mismatch in recipients.
(Nature Reviews Clinical Oncology, )

To examine the in vivo function of Mycl1 in mice, we generated an inactivating Mycl1gfp allele that also reports Mycl1 expression.
(Nature, )

For many autosomal genes in diploid organisms, expression is almost exclusively from one allele (which is termed monoallelic expression).
(Nature Reviews Genetics, )

The apolipoprotein E ε4 (APOE*ε4) allele is a well-established risk factor for cognitive decline, particularly among white individuals.
(Nature Reviews Neurology, )

Here the authors introduce a C118S mutant Kras gene into mice and show that this mutant allele results in a reduction in lung tumorigenesis.
(Nature Communications, )

They are able to use this to accurately impute genotypes at low minor allele frequency and present remote server resources for use by the community.
(Nature Genetics, )

Furthermore, deletion of the cyclin A2 allele in the mouse olfactory bulb leads to reduced S477/T479 phosphorylation and elevated cellular apoptosis.
(Nature, )

Anders Molven and colleagues show that a recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis.
(Nature Genetics, )

A single endogenous mutant Kras allele is sufficient to promote lung tumour formation in mice but malignant progression requires additional genetic alterations.
(Nature, )

Presence of the SNP on the mutant allele associated with delayed age of onset, while the SNP on the wild-type HTT allele associated with accelerated age of onset.
(Nature Neuroscience, )

Pathogenicity in autosomal recessive disease has been classically characterized by the presence of two copies of a mutant allele, which do not influence each other.
(Nature Reviews Genetics, )

B cells rearrange the immunoglobulin heavy chain genes to produce a functional B cell receptor, but how it is decided that one allele rearranges first is not clear.
(Nature Communications, )

Here we used a deletion allele of cloche to identify several new cloche candidate genes within this genomic region, and systematically genome-edited each candidate.
(Nature, )

They find an intronic allele of the GLUT2 glucose transporter gene that associates with greater metformin action, an effect that is more pronounced in obese individuals.
(Nature Genetics, )

They show that alleles with >1% minor allele frequency contribute an order of magnitude more to risk for prostate cancer than these alleles do to overall genetic variation.
(Nature Genetics, )

Levels of neurogranin are elevated in the cerebrospinal fluid of people with mild cognitive impairment who carry the apolipoprotein E (APOE) ɛ4 allele, new research has shown.
(Nature Reviews Neurology, )

During mouse preimplantation phases, a repressive imprint is imposed on the maternal allele of Xist, which encodes a large non-coding RNA required for X-chromosome inactivation.
(Nature Communications, )

Apolipoprotein E ε4 allele (APOE*ε4) is the strongest genetic risk factor for sporadic Alzheimer disease (AD), but little is known about its contribution to AD pathophysiology.
(Nature Reviews Neurology, )

This variant, which is common among Samoans (minor allele frequency = 26%) but extremely rare in other populations, promotes fat storage and reduces energy use in cellular models.
(Nature Genetics, )

Nancy Jenkins, Neal Copeland and colleagues report the results of a Sleeping Beauty transposon mutagenesis screen in mice carrying a melanocyte-specific inducible BrafV600E allele.
(Nature Genetics, )

Viral delivery of a C9orf72 allele containing 66 GGGGCC repeats produces symptoms and pathology consistent with amyotrophic lateral sclerosis (ALS) in mice, according to a new study.
(Nature Reviews Neurology, )

They further show that a prostate cancer risk allele in the 8q24 region results in upregulation of the lncRNA PCAT1, which promotes prostate cancer cell proliferation and tumor growth.
(Nature Genetics, )

Here the authors examine the genotoxic potential of A3A and the related enzyme A3B, and show that a highly prevalent chimaeric A3A-A3B deletion allele has increased DNA damage potential.
(Nature Communications, )

Although additional studies of phenotypic correction are needed, we have developed a sequence-specific and clinically feasible method to activate expression of the paternal Ube3a allele.
(Nature, )

Their follow-up studies suggest that the variant allele protects cells from heat stress by enhancing the elimination of cytotoxic denatured proteins and maintaining heat-response processes.
(Nature Genetics, )

The HLA allele HLA-B*27:05 on chromosome 6 is associated with antithyroid drug-induced agranulocytosis in white European individuals, according to a new genome-wide association study (GWAS).
(Nature Reviews Endocrinology, )

A team of scientists reports evidence that the G allele in an analogous mouse model causes changes in hippocampal operation, and thus a 'loss of function' phenotype in the brain's microcircuitry.
(Science Daily - News, )

Plant genomes are the index that will allow plant breeders and researchers to access the information contained in the world's seed banks, with each allele linking germplasm, genotype and phenotype.
(Nature Genetics, )

Using array-based genotyping and exome sequencing, we discovered a nonsense p.Arg684Ter variant (in which arginine is replaced by a termination codon) in the gene TBC1D4 with an allele frequency of 17%.
(Nature, )

The extent to which low‐frequency (minor allele frequency (MAF) between 15%) and rare (MAF ≤ 1%) variants contribute to complex traits and disease in the general population is mainly unknown.
(Nature, )

They further show that the variant protein encoded by the resistance allele exerts a dominant-negative effect by heterodimerizing with functional hexose transporters, resulting in reduced glucose uptake.
(Nature Genetics, )

Despite a clear understanding of the disease-causing event in Angelman syndrome and the potential to harness the intact paternal allele to correct the disease, no gene-specific treatment exists for patients.
(Nature, )

Unlike imprinting and heterozygous variants in regulatory sequences, which reproducibly favour expression from the same allele, random monoallelic expression results from a seemingly stochastic allele choice.
(Nature Reviews Genetics, )

The researchers found that people who had the 10-repeat allele in the dopamine transporter were most likely to engage in adolescent mild rule-breaking behavior, which is positively associated with leadership.
(Science Daily - News, )

Here, the authors perform a genome wide association study in Icelanders and people of European and East-Asian descent, and identify a new allele in intron 15 of the PTCH1 gene that associates with reduced BMD.
(Nature Communications, )

The citizens of nations that rate themselves happiest display a specific genetic feature: their DNA is more likely to contain a specific allele involved in sensory pleasure and pain reduction, say researchers.
(Science Daily - News, )

People with the disease-linked huntingtin allele who did not yet have substantial motor symptoms showed weakened frontostriatal connectivity and increased connection strength between frontal and posterior areas.
(Nature Reviews Neurology, )

Here the authors show that vinculin (a human protein) and some microbial proteins are recognized by these antibodies and by CD4 + T cells, and this response is absent in patients carrying a protective HLA allele.
(Nature Communications, )

We show that long-term HSP90 inhibition significantly extends the survival of mutp53 Q/− (R248Q allele) and H/H (R172H allele) mice by 59% and 48%, respectively, but not their corresponding p53−/− littermates.
(Nature, )

Nature499, 491495 (2013); doi:10.1038/nature12396After publication of this Letter, we became aware that we had not reported the details of construction and validation of our floxed conditional deletion Ptpn11 allele.
(Nature, )

All babies with a known mutation for cystic fibrosis (CF) and second mutation called the 5T allele should receive additional screening in order to better predict the risk of developing CF later in life, new research shows.
(Science Daily - News, )

Here, to determine the precise spatiotemporal requirements for Dpp during wing disc development, we use CRISPR–Cas9-mediated genome editing to generate a flippase recognition target (FRT)-dependent conditional null allele.
(Nature, )

Using our functional assay, we also demonstrate that different hybrid combinations exhibit significant variation in paternal allele activation, reconciling the apparently contradictory results of previous transcriptional studies.
(Nature, )

Taken together, our data highlight the importance of cis-genomic context as a contributor to protein evolution; they provide an insight into the complexity of allele effect on phenotype; and they are likely to assist methods for predicting allele pathogenicity.
(Nature, )

These results define VH1-69 allele polymorphism, rearrangement of the VDJ gene segments and single somatic mutations as the three requirements for generating broadly neutralizing VH1-69 antibodies and reveal an unexpected redundancy in the affinity maturation process.
(Nature, )

Andrea Sottoriva, Trevor Graham and colleagues analyze tumor sequencing data and show that a substantial proportion of cancers of many different types are characterized by neutral evolution resulting in a characteristic power-law distribution of the mutant allele frequencies.
(Nature Genetics, )

This protein quantitative trait analysis in monocytes evaluates cross-talk between Alzheimer risk loci and finds that the NME8 locus influences PTK2B, the CD33 risk allele leads to greater TREM2 expression, and the TREM1 risk allele is associated with a decreased TREM1/TREM2 ratio.
(Nature Neuroscience, )

We measure single-cell protein abundance through the use of green fluorescent protein tags in very large populations of genetically variable cells, and use pooled sequencing to compare allele frequencies across the genome in thousands of individuals with high versus low protein abundance.
(Nature, )

A new analysis framework called Genomiser combines a pathogenicity score to assess Mendelian non-coding variation with other measures — such as predicted regulatory regions, allele frequency or the phenotypic relevance of associated genes — to improve the identification of regulatory variants from whole-genome sequences.
(Nature Reviews Genetics, )

Bin Han and colleagues present a genome-wide association analysis of grain size and shape in cultivated rice and identify a major locus for grain size encoding the transcription factor OsSPL13. They find that the large-grain allele in tropical japonica cultivars was introgressed from indica varieties during selection for improved grain yield.
(Nature Genetics, )

Here we demonstrate the feasibility of such an approach in mammalian cells using next-generation sequencing of drug-resistant clones and CRISPR-Cas9–mediated gene editing on two drug-target pairs, 6-thioguanine–HPRT1 and triptolide-ERCC3. We showed that disrupting functional HPRT1 allele or introducing ERCC3 point mutations by gene editing can confer drug resistance in cells.
(Nature Chemical Biology , )

We show that SNP rs2168101 G>T is the most highly associated variant (combined P = 7.47 × 1029, odds ratio 95% confidence interval 0.600.70), and resides in a super-enhancer defined by extensive acetylation of histone H3 lysine 27 within the first intron of LMO1. The ancestral G allele that is associated with tumour formation resides in a conserved GATA transcription factor binding motif.
(Nature, )

The haplotigs accurately characterized the hypervariable major histocompatability complex region as well as demonstrating allele configuration in clinically relevant genes such as CYP2D6. This work presents the most contiguous diploid human genome assembly so far, with extensive investigation of unreported and Asian-specific structural variants, and high-quality haplotyping of clinically relevant alleles for precision medicine.
(Nature, )

Surprisingly, our studies of a knock-in mutant mouse strain that expresses a stabilized and transcriptionally dead variant of the tumour-suppressor protein p53 (p5325,26,53,54), along with a wild-type allele of p53 (also known as Trp53), revealed late-gestational embryonic lethality associated with a host of phenotypes that are characteristic of CHARGE syndrome, including coloboma, inner and outer ear malformations, heart outflow tract defects and craniofacial defects.
(Nature, )

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