Articles with "genetic mutations" as a keyword



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Role of key genetic mutations on increasing migration of brain cancer cells through confinement

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Published in 2017 at "Biomedical Microdevices"

DOI: 10.1007/s10544-017-0197-9

Abstract: Uncontrolled invasive cancer cell migration is among the major challenges for the treatment and management of brain cancer. Although the genetic profiles of brain cancer cells have been well characterized, the relationship between the genetic… read more here.

Keywords: brain cancer; confinement; migration; genetic mutations ... See more keywords
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Focus on increased serum angiotensin-converting enzyme level: From granulomatous diseases to genetic mutations.

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Published in 2018 at "Clinical biochemistry"

DOI: 10.1016/j.clinbiochem.2018.06.010

Abstract: Angiotensin I-converting enzyme (ACE) is a well-known zinc-metallopeptidase that converts angiotensin I to the potent vasoconstrictor angiotensin II and degrades bradykinin, a powerful vasodilator, and as such plays a key role in the regulation of… read more here.

Keywords: focus increased; converting enzyme; angiotensin converting; genetic mutations ... See more keywords
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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis

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Published in 2018 at "Scientific Reports"

DOI: 10.1038/s41598-018-35733-5

Abstract: NKX family members are involved in a variety of developmental processes such as cell fate determination in the central nervous system, gastrointestinal tract, and pancreas. However, whether NKX6.3 contributes to gastric carcinogenesis remains unclear. The… read more here.

Keywords: aicda apobec; nkx6 depletion; multiple genetic; family ... See more keywords
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Healthy lifestyle? or just the right genetic mutations

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Published in 2023 at "Cell Cycle"

DOI: 10.1080/15384101.2023.2206351

Abstract: ABSTRACT The development of genomic technologies over the past decades has enabled identification of genetic variants responsible of disease; occasionally however, protective rare variants emerged. Verweij et al have recently reported genetic variants in CIDEB… read more here.

Keywords: healthy lifestyle; lifestyle right; genetic mutations; right genetic ... See more keywords
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Genetic mutations in chronic lymphocytic leukemia: impact on clinical treatment

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Published in 2019 at "Expert Review of Hematology"

DOI: 10.1080/17474086.2019.1575130

Abstract: ABSTRACT Introduction: Several recurrently deregulated pathways implicated in the development of chronic lymphocytic leukemia (CLL) have been described over the last decades. Knowledge of the CLL genetic heterogeneity led to the definition of molecular biomarkers… read more here.

Keywords: lymphocytic leukemia; hematology; treatment; genetic mutations ... See more keywords
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Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort.

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Published in 2018 at "Genetic testing and molecular biomarkers"

DOI: 10.1089/gtmb.2018.0004

Abstract: BACKGROUND Protein aggregate myopathies (PAM) represent a group of familial or sporadic neuromuscular conditions with marked clinical and genetic heterogeneity that occur in children and adults. Familial PAM includes myofibrillar myopathies defined by the presence… read more here.

Keywords: mutations demographic; demographic clinical; myofibrillar myopathy; clinical morphological ... See more keywords
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Genetics of vascular malformation and therapeutic implications.

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Published in 2019 at "Current Opinion in Pediatrics"

DOI: 10.1097/mop.0000000000000794

Abstract: PURPOSE OF REVIEW Vascular malformations (VaMs) are a consequence of disrupted morphogenesis that may involve arterial, capillary, venous, or lymphatic endothelium alone or in a combination. VaMs can have serious health impacts, leading to life-threatening… read more here.

Keywords: vascular malformation; genetic mutations; malformation therapeutic; genetics ... See more keywords
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Radiomics-based assessment of idiopathic pulmonary fibrosis is associated with genetic mutations and patient survival

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Published in 2021 at "Journal of Medical Imaging"

DOI: 10.1117/1.jmi.8.3.031903

Abstract: Abstract. Purpose: The purpose of our study was to combine differences in radiomic features extracted from lung regions in the computed tomography (CT) scans of patients diagnosed with idiopathic pulmonary fibrosis (IPF) to identify associations… read more here.

Keywords: genetic mutations; pulmonary fibrosis; patient survival; survival ... See more keywords
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Application of BERT to Enable Gene Classification Based on Clinical Evidence

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Published in 2020 at "BioMed Research International"

DOI: 10.1155/2020/5491963

Abstract: The identification of profiled cancer-related genes plays an essential role in cancer diagnosis and treatment. Based on literature research, the classification of genetic mutations continues to be done manually nowadays. Manual classification of genetic mutations… read more here.

Keywords: classification; evidence; application bert; genetic mutations ... See more keywords
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Site-directed A → I RNA editing as a therapeutic tool: moving beyond genetic mutations

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Published in 2023 at "RNA"

DOI: 10.1261/rna.079518.122

Abstract: Adenosine deamination by the ADAR family of enzymes is a natural process that edits genetic information as it passes through messenger RNA. Adenosine is converted to inosine in mRNAs, and this base is interpreted as… read more here.

Keywords: rna editing; site directed; editing therapeutic; directed rna ... See more keywords
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Prevalence of genetic mutations in horses with muscle disease from a neuromuscular disease laboratory.

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Published in 2022 at "Journal of equine veterinary science"

DOI: 10.2139/ssrn.4100989

Abstract: Deleterious genetic variants are an important cause of skeletal muscle disease. Immunohistochemical evaluation of muscle biopsies is standard for the diagnosis of muscle disorders. The prevalence of alleles causing hyperkalemic periodic paralysis (HYPP), malignant hyperthermia… read more here.

Keywords: disease; horses muscle; prevalence genetic; muscle disease ... See more keywords