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Published in 2023 at "Biochemical Society transactions"
DOI: 10.1042/bst20221365
Abstract: In the last decade, dominant mutations in the mitochondrial protein CHCHD10 (p.R15L and p.S59L) and its paralog CHCHD2 (p.T61I) were shown to cause familial amyotrophic lateral sclerosis (ALS) and Parkinson's disease (PD), respectively, with phenotypes…
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Keywords:
precision therapy;
chchd10;
chchd10 related;
related neurodegeneration ... See more keywords
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1
Published in 2022 at "Current Opinion in Pediatrics"
DOI: 10.1097/mop.0000000000001198
Abstract: Purpose of review The fields of precision medicine and cancer genomics in pediatric oncology are rapidly evolving. Novel diagnostic tools are critical in refining cancer diagnoses, stratifying patient risk, and informing treatment decisions. This review…
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Keywords:
precision therapy;
oncology;
medicine;
pediatric oncology ... See more keywords
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Published in 2023 at "Epilepsia"
DOI: 10.1111/epi.17530
Abstract: Perampanel, an antiseizure drug with α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid receptor antagonist properties, may have a targeted effect in genetic epilepsies with overwhelming glutamate receptor activation. Epilepsies with loss of γ‐aminobutyric acid inhibition (e.g., SCN1A), overactive excitatory neurons…
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Keywords:
precision therapy;
therapy rare;
rare genetic;
perampanel precision ... See more keywords
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1
Published in 2022 at "Cancer Discovery"
DOI: 10.1158/2159-8290.cd-21-1566
Abstract: BCL10 mutations in diffuse large B-cell lymphoma (DLBCL) fall into two classes, with both conferring BTK inhibitor resistance but only truncation mutations conferring MALT1 dependency, suggesting use of these mutation classes as precision therapy biomarkers.
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Keywords:
precision therapy;
mutations define;
bcl10 mutations;
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Published in 2023 at "Cancers"
DOI: 10.3390/cancers15092661
Abstract: Simple Summary Triple-negative breast cancer (TNBC), the most aggressive and heterogenous type of cancer, lacks the expression of hormones like estrogen, progesterone, and human epidermal growth receptor-2, making chemotherapy the only treatment regimen against TNBC.…
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Keywords:
precision therapy;
breast cancer;
nanotechnology;
tnbc ... See more keywords