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Examples of Aberrant

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100 examples:

Only individuals with an aberrant temperament can in the long run retain their self-esteem in the face of the disesteem of their fellows.

These disorders result in aberrant monoamine synthesis, metabolism and transport.
(Nature Reviews Neurology, )

Aberrant regulation of RNA stability has an important role in many disease states.
(Nature, )

Aberrant RNA editing is linked to a range of neuropsychiatric and chronic diseases.
(Nature Communications, )

The majority of human cancers exhibit aberrant signalling of the small G protein RAS.
(Nature Reviews Drug Discovery, )

Aberrant function of transcription activators has been implicated in several diseases.
(Nature, )

Aberrant oncogene expression can cause replication stress leading to chromosomal breaks.
(Nature Communications, )

α-synuclein is a protein whose aberrant aggregation is associated with Parkinson’s disease.
(Nature Communications, )

Evidence suggests that aberrant RNA processing contributes to amyotrophic lateral sclerosis (ALS).
(Nature Neuroscience, )

Aberrant Ras signalling resulting in downstream Mek/Erk pathway activation is found in many cancers.
(Nature Communications, )

Aberrant activation of the RAS–RAF–MEK–ERK1/2 pathway occurs in more than 30% of human cancers.
(Nature Reviews Clinical Oncology, )

Aberrant activity in the Notch pathway contributes to the initiation and maintenance of cancer stem cells.
(Science Daily - News, )

The mother's kindness is generally understood; or, to look at things another way, her unkindness more aberrant.
(The Independent - Health & Families, )

Here Amabile et al . show that aberrant methylation is promoted by BCR-ABL, driving the evolution of the disease.
(Nature Communications, )

Aberrant Hedgehog signalling has been described for several solid cancers, including prostate and bladder tumours.
(Nature Reviews Urology, )

Reduced CTCF binding is associated with loss of insulation between topological domains and aberrant gene activation.
(Nature, )

The brain cancer glioblastoma relies on aberrant epidermal growth factor receptor (EGFRvIII) signaling for tumorigenesis.
(Nature Neuroscience, )

The scientists have shown that, in all cancers, an aberrant activation of numerous genes specific to other tissues occurs.
(Science Daily - News, )

The cells stay in an aberrant state, which closely resembles that of cells in B-ALL, a special form of human B cell leukemia.
(Science Daily - News, )

However, in certain cases, the activity of these pathways can lead to aberrant DNA repair, genomic instability and tumorigenesis.
(Nature Reviews Molecular Cell Biology, )

Inflammasomes have an important role in innate immunity, but their aberrant activation is linked to chronic inflammatory diseases.
(Nature Reviews Drug Discovery, )

Multiple sclerosis involves an aberrant autoimmune response and progressive failure of remyelination in the central nervous system.
(Nature, )

Researchers now describe how aberrant mTOR signaling in the liver not only affects hepatic metabolism but also whole body physiology.
(Science Daily - News, )

A screen of this nature could help in the discovery of therapeutics for numerous diseases associated with aberrant protein aggregation.
(Nature Chemistry, )

Nonsense-mediated mRNA decay (NMD) is a pathway that controls endogenous transcript levels and limits the production of aberrant mRNAs.
(Nature Communications, )

They identify ten new susceptibility loci and implicate aberrant regulation of innate and adaptive immunity genes in disease pathogenesis.
(Nature Genetics, )

Here, the authors show that PTEN depletion leads to mitotic spindle shortening and chromosome misalignment due to aberrant EG5 activation.
(Nature Communications, )

New work reveals how a small molecule can affect this machinery in a model of spinal muscular atrophy, a disease linked to aberrant splicing.
(Nature Chemical Biology , )

Aberrant functioning of the renal dopamine receptor (D1R) under conditions of oxidative stress has been associated with elevated blood pressure.
(Nature Reviews Nephrology, )

In this study, the authors show that age-related aberrant synaptic remodeling in the retinal outer plexiform layer is mediated by LBK1-AMPK signaling.
(Nature Neuroscience, )

They further show that PRC2 loss is associated with loss of H3K27 trimethylation and aberrant expression of PRC2 target genes and downstream pathways.
(Nature Genetics, )

Epileptic seizures generate aberrant neurogenesis in the adult mouse hippocampal region but how animals cope with abnormal neurogenesis remains unknown.
(Nature Communications, )

Here, the authors show that SHP-1 ablation impairs the establishment of long-lived bone marrow-resident plasma cells due to aberrant integrin activation.
(Nature Communications, )

Mhrt antagonizes the function of Brg1, a chromatin-remodelling factor that is activated by stress to trigger aberrant gene expression and cardiac myopathy.
(Nature, )

The authors use VIPER to predict aberrant protein activity independent of mutational status and validate drug sensitivity predictions using in vitro assays.
(Nature Genetics, )

Lysine acetylation is a key mechanism that regulates chromatin structure; aberrant acetylation levels have been linked to the development of several diseases.
(Nature Reviews Drug Discovery, )

Secondary structure refolding is a key event in biology as it modulates the conformation of many proteins in the cell, generating functional or aberrant states.
(Nature Chemical Biology , )

Here, Morgner et al. show that lack of ILK causes an aberrant ratio of basement membrane laminins, activating stem cells and predisposing skin to carcinogenesis.
(Nature Communications, )

Aberrant activation of β-catenin in the nucleus has been implicated in several cancers, but the mechanisms regulating nuclear β-catenin are not well understood.
(Nature Communications, )

Chronic inflammation can cause regenerating cells to grow into new, aberrant types; this is called metaplasia, and is a disorder linked to prolonged inflammation.
(Science Daily - News, )

A new study shows that the phosphodiesterase TDP2 has a key role in protecting the nervous system by preventing DNA breaks induced by aberrant topoisomerase II activity.
(Nature Genetics, )

On scratchy radios they listen to Vin Scully for a mere three innings, salvaging what they can of this aberrant young season, brimming with equal amounts promise and poison.
(Chris Erskine in Los Angeles Times - Baseball, )

In this issue, newly reported crystal structures of two specialized A-family polymerases, pol ν and pol θ, expose these enzymes' strategies for handling aberrant DNA ends.
(Nature Structural & Molecular Biology, )

Our study suggests that IDH mutations promote gliomagenesis by disrupting chromosomal topology and allowing aberrant regulatory interactions that induce oncogene expression.
(Nature, )

Here, the authors show that elevated glucose and amyloid ß work together to increase nitrosative stress, leading to aberrant mitochondrial activity and synaptic dysfunction.
(Nature Communications, )

Here the authors show that microglia are activated through TLR9 signaling and that this leads to sustained expression of TNF-α which attenuates induced aberrant neurogenesis.
(Nature Communications, )

Aberrant function of the extracellular matrix receptor dystroglycan is associated with human congenital muscular dystrophies, often associated with brain and eye abnormalities.
(Nature Communications, )

Signalling through the tyrosine receptor kinase ALK (anaplastic lymphoma kinase) is important in development, and aberrant ALK activation has been implicated in several cancers.
(Nature Reviews Molecular Cell Biology, )

Here, the authors show that TALEs with single natural repeats of aberrant length tolerate one base pair deletions and may enable the bacteria to overcome natural plant resistance.
(Nature Communications, )

Here the authors show that aberrant regulation by methyltransferase PRMT5 results in failure to arrest the cell cycle and genome instability, pointing to a role in carcinogenesis.
(Nature Communications, )

Threats to genomic integrity arising from DNA damage are mitigated by DNA glycosylases, which initiate the base excision repair pathway by locating and excising aberrant nucleobases.
(Nature, )

Increased activity and aberrant localization of proteases within the tumour microenvironment have a potent role in driving cancer progression, proliferation, invasion and metastasis.
(Nature Reviews Cancer, )

They have shown that reducing the aberrant accumulation of a particular form of the mutant Huntingtin protein corresponds to improvement in symptoms and neuroinflammation in HD mice.
(Science Daily - News, )

Aberrant activation of oncogenes or loss of tumour suppressor genes opposes malignant transformation by triggering a stable arrest in cell growth, which is termed cellular senescence.
(Nature, )

Transplantation assays in mice support an oncogenic role for the DUX4-IGH fusion gene, which expresses DUX4 protein with an aberrant C terminus at high levels in patients with AYA-ALL.
(Nature Genetics, )

Receptor Interacting Protein Kinase 2 (RIPK2) mediates innate immune signalling in response to intracellular pathogens, but its aberrant activation contributes to autoimmune pathologies.
(Nature Communications, )

Aberrant hippocampal neurogenesis often occurs after acute seizures that produce epilepsy and cognitive impairment but the role of neurogenesis in the development of epilepsy is unclear.
(Nature Communications, )

Many aberrant or differentially methylated sites have been discovered, but the mechanisms by which changes in DNA methylation lead to observed phenotypes, such as cancer, remain elusive.
(Nature Reviews Genetics, )

We propose that aberrant long-tract homologous recombination at stalled replication forks contributes to genomic instability and breast/ovarian cancer predisposition in BRCA mutant cells.
(Nature, )

Mutations in the gene encoding the laforin protein result in the accumulation aberrant glycogen-like accumulations called Lafora bodies that resemble plant starch more than human glycogen.
(Science Daily - News, )

Their genomic mapping has revealed unprecedented details, not only of the aberrant genetic and chromosomal changes that drive the cancer, but the sequence of those changes that trigger it.
(Science Daily - News, )

As a consequence, increased expression of β-catenin-target genes was observed at 1 month, together with crypt enlargement accompanying the formation of early tumorous aberrant crypt foci.
(Nature, )

The transition from the moderate use of alcohol to excessive, uncontrolled alcohol consumption results from neuroadaptations that cause aberrant motivational learning and memory processes.
(Nature Reviews Neuroscience, )

Müschen and colleagues show that repeated inflammatory episodes induce aberrant coexpression of the DNA recombinases RAG and AID to promote the development of acute lymphoblastic leukemia.
(Nature Immunology, )

Every now and then, reports of a hippo of hunting down prey, eating a carcass, or stealing prey from a crocodile are heard, but they're typically considered 'aberrant' or 'unusual' behavior.
(Science Daily - News, )

Although constitutive NF-κB signalling is present in most human tumours, mutations in pathway members are rare, complicating efforts to understand and block aberrant NF-κB activity in cancer.
(Nature, )

Many oncogenes and tumour suppressors affect the translation machinery, making aberrant translation a widespread characteristic of tumour cells, independent of the genetic make-up of the cancer.
(Nature Reviews Drug Discovery, )

The resulting protein is a potent transcriptional activator of PAX3 response elements and is associated with aberrant expression of genes involved in neuroectodermal and myogenic differentiation.
(Nature Genetics, )

Current drugs for epilepsy mainly target voltage-gated ion channels to reduce the aberrant neuronal excitability that underlies seizures, but almost one-third of patients are refractory to treatment.
(Nature Reviews Drug Discovery, )

Researchers have shown how an aberrant alternative splicing program changes the form of an enzyme involved in the fundamental metabolism of these muscle cells, leaving them unable to sustain exercise.
(Science Daily - News, )

Genetic defects affecting tiny channels in human nerve cells lead to several neurological diseases that result from aberrant nerve transmission, such as episodic ataxia, absence epilepsy, and migraines.
(Science Daily - News, )

Instead of directly interacting with the damaged nucleobase, AlkD recognizes aberrant base pairs through interactions with the phosphoribose backbone, while the lesion remains stacked in the DNA duplex.
(Nature, )

Here, the authors show that although hox3 genes are not required for overall neural circuit development, they do appear to be necessary to prevent the formation of specific aberrant neuronal connections.
(Nature Communications, )

Aberrant epigenomes define many childhood and adult brain cancers, as demonstrated by widespread changes to DNA methylation patterns, redistribution of histone marks and disruption of chromatin structure.
(Nature Neuroscience, )

Here the authors show that mice lacking PIKfyve exclusively in their platelets exhibit a systemic disorder characterized by multi-organ inflammation and thrombosis due to aberrant platelet lysosome function.
(Nature Communications, )

Findings on a novel therapeutic candidate for a genomically defined subset of hepatocellular carcinoma (HCC) patients with an aberrant fibroblast growth factor receptor 4 (FGFR4) pathway have been presented.
(Science Daily - News, )

Xiao and colleagues show that B cell tolerance requires downregulation of the microRNA miR-148a, as aberrant expression of miR-148a increases survival of autoreactive B cells and contributes to autoimmunity.
(Nature Immunology, )

While reperfusion of ischaemic tissue is essential for survival, it also initiates oxidative damage, cell death and aberrant immune responses through the generation of mitochondrial reactive oxygen species (ROS).
(Nature, )

Here, Alvarez et al . show that loss of origin licensing factor MCM3 induces replicative stress (RS), causing aberrant erythrocyte maturation, but mice strains with higher tolerance to RS can overcome this defect.
(Nature Communications, )

The gene encodes a protein called plakophilin 2, which is crucial for the formation and proper functioning of the skin structure, suggesting an aberrant skin barrier as a potential risk factor for atopic dermatitis.
(Science Daily - News, )

Here the authors show that syntenin binds to GDP-bound Rheb, and loss of this interaction in TSC leads to increased syntenin expression and downstream signalling defects leading to aberrant spine synapse morphogenesis.
(Nature Communications, )

Romani et al. reported an aberrant inflammatory response to pulmonary aspergillosis as well as sterile Aspergillusfumigatus to be mediated by a defective tryptophan catabolism to kynurenine caused by lack of in CGD mice.
(Nature, )

Aberrant coupling between hippocampal interictal discharges and neocortical spindle oscillations triggers the generation of cortical ‘down’ states in both a rodent epilepsy model and human patients with focal epilepsy.
(Nature Medicine, )

It remains elusive whether the capacity to regenerate limbs in salamanders is mechanistically and evolutionarily linked to the aberrant pattern of limb development; both are features classically regarded as unique to urodeles.
(Nature, )

Analysis of SLOS patient-derived iPSCs reveals that cellular accumulation of the cholesterol precursor 7DHC, rather than cholesterol deficiency, causes dysregulation of Wnt/β-catenin signaling and aberrant neural differentiation.
(Nature Medicine, )

At the neuronal stage, layer V/VI cortical neurons derived from Williams syndrome were characterized by longer total dendrites, increased numbers of spines and synapses, aberrant calcium oscillation and altered network connectivity.
(Nature, )

Missense mutations in p53 generate aberrant proteins with abrogated tumour suppressor functions that can also acquire oncogenic gain-of-function activities that promote malignant progression, invasion, metastasis and chemoresistance.
(Nature, )

Despite a lack of recent progress in the treatment of schizophrenia, our understanding of its genetic and environmental causes has considerably improved, and their relationship to aberrant patterns of neurodevelopment has become clearer.
(Nature Reviews Drug Discovery, )

These results demonstrate that epithelial–mesenchymal interactions coordinated by hedgehog actively maintain postnatal tissue homeostasis, and deregulation of hedgehog during injury leads to aberrant repair and regeneration in the lung.
(Nature, )

The article helps explain why genetically identical animals are sometimes so different in their biology and appearance, and why some inherited disorders caused by a shared set of aberrant genes can be of such variable severity in different people.
(Science Daily - News, )

As MORRBID is present in humans and dysregulated in individuals with hypereosinophilic syndrome, this long non-coding RNA may represent a potential therapeutic target for inflammatory disorders characterized by aberrant short-lived myeloid cell lifespan.
(Nature, )

Both chronic and acute treatment of adult Ts65Dn mice with the FDA-approved NKCC1 inhibitor bumetanide suppressed aberrant excitatory GABAAR signaling and rescued synaptic plasticity deficits and cognitive disabilities in this mouse model of Down syndrome.
(Nature Medicine, )

They further show that knockdown of Sin3a in developing mouse brain results in reduced cortical neurogenesis, altered neuronal identity and aberrant cortical projections, identifying this MeCP2-interacting protein as a key regulator of cortical development.
(Nature Genetics, )

Aberrant expression of the secreted signalling molecule Wnt1 generates mixed-lineage mammary tumours composed of basal and luminal tumour cell subtypes, which purportedly derive from a bipotent malignant progenitor cell residing atop a tumour cell hierarchy.
(Nature, )

This aberrant interaction competitively interferes with the binding of the cognate ligand vascular endothelial growth factor (VEGF) to Nrp1. Genetic reduction of Nrp1 in mice worsens CMT2D symptoms, whereas enhanced expression of VEGF improves motor function.
(Nature, )

UPF1 is required for nonsense-mediated RNA decay, suggesting that the aberrant accumulation of altered RNA transcripts may contribute to the malignant phenotype of these tumors and could be a target of diagnostic and therapeutic approaches for this tumor type.
(Nature Medicine, )

Guido Sauter, Roland Eils, Christoph Plass, Raffaella Santoro and colleagues report that the gene encoding the epigenetic regulator BAZ2A is overexpressed in prostate cancer, where it interacts with EZH2 to induce aberrant gene silencing and cell proliferation.
(Nature Genetics, )

To protect against invading pathogens, the skin harbours specialized immune cells, including dermal dendritic cells (DDCs) and interleukin (IL)-17-producing γδ T (γδT17) cells, the aberrant activation of which by IL-23 can provoke psoriasis-like inflammation.
(Nature, )

Correspondingly, genetically engineered mouse models expressing mutant IDH in the adult liver show an aberrant response to hepatic injury, characterized by HNF-4α silencing, impaired hepatocyte differentiation, and markedly elevated levels of cell proliferation.
(Nature, )

SRSF6-overexpressing mice develop skin hyperplasia and aberrant alternative splicing, with SRSF6 binding to alternative exons of the pre-mRNA of the extracellular-matrix protein tenascin C, thus promoting expression of isoforms characteristic of invasive and metastatic cancer.
(Nature Structural & Molecular Biology, )

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