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   Articles with "mutant allele" as a keyword



Widespread Selection for Oncogenic Mutant Allele Imbalance in Cancer.

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recommendations! Published in 2018 at "Cancer cell"

DOI: 10.1016/j.ccell.2018.10.003

Abstract: Driver mutations in oncogenes encode proteins with gain-of-function properties that enhance fitness. Heterozygous mutations are thus viewed as sufficient for tumorigenesis. We describe widespread oncogenic mutant allele imbalance in 13,448 prospectively characterized cancers. Imbalance was… read more here.

Keywords: imbalance; selection; allele imbalance; mutant allele ... See more keywords

A New Cost-efficient Single Nucleotide Polymorphism (SNP) Preimplantation Genetic TESTING (PGT) Assay for Beta-thalassaemia and simultaneous use with Preimplantation Genetic Screening (PGS)

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recommendations! Published in 2019 at "Reproductive BioMedicine Online"

DOI: 10.1016/j.rbmo.2019.03.080

Abstract: Introduction Thalassaemia affects 4.5% of the population in Malaysia. Complications of β- thalassaemia major in children pose a heavy load on transfusion and paediatric services. Preimplantation Genetic Diagnosis (PGD) in conjunction with IVF to avoid… read more here.

Keywords: preimplantation genetic; heterozygous carrier; mutant allele; wild type ... See more keywords

The contribution of iron metabolism to heart failure: a haematological and biochemical perspective

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recommendations! Published in 2024 at "European Heart Journal"

DOI: 10.1093/eurheartj/ehae666.3750

Abstract: Heart failure (HF) can be influenced by diverse modulators, such as genes involved in iron metabolism - HFE, SLC40A1 and TMPRSS6, and haematological and biochemical parameters - serum iron, ferritin, transferrin saturation, mean corpuscular volume… read more here.

Keywords: iron metabolism; presence mutant; presence; haematological biochemical ... See more keywords

Selfing Shapes Fixation of a Mutant Allele Under Flux Equilibrium

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recommendations! Published in 2024 at "Genome Biology and Evolution"

DOI: 10.1093/gbe/evae261

Abstract: Abstract Sexual reproduction with alternative generations in a life cycle is an important feature in eukaryotic evolution. Partial selfing can regulate the efficacy of purging deleterious alleles in the gametophyte phase and the masking effect… read more here.

Keywords: selfing shapes; mutant allele; shapes fixation; equilibrium ... See more keywords

EPCO-23. MOLECULAR CHARACTERIZATION OF CRISPROFF EPIGENETIC EDITOR ACTIVITY REVEALS MUTANT ALLELE-SPECIFIC TERT REPRESSION IN GLIOBLASTOMA

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recommendations! Published in 2025 at "Neuro-Oncology"

DOI: 10.1093/neuonc/noaf201.0023

Abstract: Telomerase reactivation via mutations in the telomerase reverse transcriptase promoter (TERTp) is a recurrent feature of glioblastoma, enabling replicative immortality in ~80% of patient cases and presents a critical oncogenic event attractive for therapeutic targeting.… read more here.

Keywords: tertp; mutant allele; glioblastoma; crisproff ... See more keywords

BRAF Gene Copy Number and Mutant Allele Frequency Correlate with Time to Progression in Metastatic Melanoma Patients Treated with MAPK Inhibitors

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recommendations! Published in 2018 at "Molecular Cancer Therapeutics"

DOI: 10.1158/1535-7163.mct-17-1124

Abstract: Metastatic melanoma is characterized by complex genomic alterations, including a high rate of mutations in driver genes and widespread deletions and amplifications encompassing various chromosome regions. Among them, chromosome 7 is frequently gained in BRAF-mutant… read more here.

Keywords: melanoma; braf mutant; copy number; mapk inhibitors ... See more keywords

Abstract 3871: KRAS G12C mutant allele amplification drives resistance to sotorasib in vitro

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recommendations! Published in 2023 at "Cancer Research"

DOI: 10.1158/1538-7445.am2023-3871

Abstract: Sotorasib is an approved KRASG12C-selective inhibitor for the treatment of KRAS p.G12C-mutant advanced and previously treated non-small cell lung cancers (NSCLC). Acquired resistance due to genomic alterations following sotorasib treatment has been observed in 28%… read more here.

Keywords: kras g12c; amplification; resistance; mutant allele ... See more keywords

High NPM1-mutant allele burden at diagnosis predicts unfavorable outcomes in de novo AML.

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recommendations! Published in 2018 at "Blood"

DOI: 10.1182/blood-2018-01-828467

Abstract: Acute myeloid leukemia (AML) with mutated NPM1 is a newly recognized separate entity in the revised 2016 World Health Organization classification and is associated with a favorable prognosis. Although previous studies have evaluated NPM1 in… read more here.

Keywords: high npm1; novo aml; mutant allele; allele burden ... See more keywords

Genetic variability in stroke patients: CYP2C19 polymorphisms unraveled

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recommendations! Published in 2024 at "BMC Medical Genomics"

DOI: 10.1186/s12920-024-01886-8

Abstract: Objective To study the distribution characteristics of CYP2C19 polymorphisms in patients suffering from stroke in Han Chinese patients. Method PCR and DNA microarray chip technology were used to detect the CYP2C19 genotype of 549 patients… read more here.

Keywords: patients stroke; stroke; cyp2c19 polymorphisms; type ... See more keywords

NRASQ61K/R/L Mutant Allele Frequency in Melanoma and its Correlation With Clinicopathological Characteristics

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recommendations! Published in 2025 at "AntiCancer Research"

DOI: 10.21873/anticanres.17488

Abstract: Background/Aim: Approximately 80% of NRAS mutations in melanoma occur at codon 61, locking the NRAS protein into a GTP-bound state. We aimed to evaluate the mutant allele frequency (MAF) of NRASQ61R/K/L as a possible prognostic… read more here.

Keywords: allele frequency; correlation; maf; clinicopathological characteristics ... See more keywords

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts

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recommendations! Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms23084410

Abstract: Collagen VI-related disorders are the second most common congenital muscular dystrophies for which no treatments are presently available. They are mostly caused by dominant-negative pathogenic variants in the genes encoding α chains of collagen VI,… read more here.

Keywords: crispr cas9; pathogenic variant; allele specific; collagen ... See more keywords