Výsledky vyhledávání - "Theresa A. Boyle"

Akademický článek

Unveiling the Molecular Features of SCLC With a Clinical RNA Expression Panel

Autor: Hilal Ozakinci, MD, Aileen Y. Alontaga, PhD, Pedro Cano, MD, John M. Koomen, PhD, Bradford A. Perez, MD, Amer A. Beg, PhD, Alberto A. Chiappori, MD, Eric B. Haura, MD, Theresa A. Boyle, MD, PhD

Publikováno v: JTO Clinical and Research Reports, Vol 5, Iss 11, Pp 100723- (2024)

Introduction: The translation of gene expression profiles of SCLC to clinical testing remains relatively unexplored. In this study, gene expression variations in SCLC were evaluated to identify potential biomarkers. Methods: RNA expression profiling

Externí odkaz: https://doaj.org/article/ea0254e38bb7448e97135d59c5c6d059

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Akademický článek

RET splice site variants in medullary thyroid carcinoma

Autor: Daryoush Saeed-Vafa, Kyriakos Chatzopoulos, Juan Hernandez-Prera, Pedro Cano, James J. Saller, Julie E. Hallanger Johnson, Bryan McIver, Theresa A. Boyle

Publikováno v: Frontiers in Genetics, Vol 15 (2024)

Introduction: Medullary thyroid carcinoma (MTC) is an aggressive cancer that is often caused by driver mutations in RET. Splice site variants (SSV) reflect changes in mRNA processing, which may alter protein function. RET SSVs have been described in

Externí odkaz: https://doaj.org/article/43f3651c022f4709b71eca41e706cfce

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Akademický článek

Grading of lung adenocarcinomas with simultaneous segmentation by artificial intelligence (GLASS-AI)

Autor: John H. Lockhart, Hayley D. Ackerman, Kyubum Lee, Mahmoud Abdalah, Andrew John Davis, Nicole Hackel, Theresa A. Boyle, James Saller, Aysenur Keske, Kay Hänggi, Brian Ruffell, Olya Stringfield, W. Douglas Cress, Aik Choon Tan, Elsa R. Flores

Publikováno v: npj Precision Oncology, Vol 7, Iss 1, Pp 1-11 (2023)

Abstract Preclinical genetically engineered mouse models (GEMMs) of lung adenocarcinoma are invaluable for investigating molecular drivers of tumor formation, progression, and therapeutic resistance. However, histological analysis of these GEMMs requ

Externí odkaz: https://doaj.org/article/89e9d70db115477fa00c838d057d8df4

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Akademický článek

An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader–Willi Syndrome

Autor: Molly M. Crenshaw, Sharon L. Graw, Dobromir Slavov, Theresa A. Boyle, Daniel G. Piqué, Matthew Taylor, Peter Baker

Publikováno v: Case Reports in Genetics, Vol 2023 (2023)

Loss of expression of paternally imprinted genes in the 15q11.2-q13 chromosomal region leads to the neurodevelopmental disorder Prader–Willi Syndrome (PWS). The PWS critical region contains four paternally expressed protein-coding genes along with

Externí odkaz: https://doaj.org/article/8135f8c0a7ff4cb885ed8374ded74466

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Akademický článek

A community‐based lung cancer rapid tissue donation protocol provides high‐quality drug‐resistant specimens for proteogenomic analyses

Publikováno v: Cancer Medicine, Vol 9, Iss 1, Pp 225-237 (2020)

Abstract Background For the advancement of cancer research, the collection of tissue specimens from drug‐resistant tumors after targeted therapy is crucial. Although patients with lung cancer are often provided targeted therapy, post‐therapy spec

Externí odkaz: https://doaj.org/article/82ae3eb5e1ff40e2b1ca8ba0ac5ee571

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Akademický článek

Proteogenomic landscape of squamous cell lung cancer

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)

Squamous cell lung cancer has dismal prognosis due to the dearth of effective treatments. Here, the authors perform an integrated proteogenomic analysis of the disease, revealing three proteomics-based subtypes and suggesting potential therapeutic op

Externí odkaz: https://doaj.org/article/841bd6d6165d4e9f8532ae0a3ce6a908

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Akademický článek

Guideline-Adherent Clinical Validation of a Comprehensive 170-Gene DNA/RNA Panel for Determination of Small Variants, Copy Number Variations, Splice Variants, and Fusions on a Next-Generation Sequencing Platform in the CLIA Setting

Autor: Theresa A. Boyle, Ashis K. Mondal, Daryoush Saeed-Vafa, Sudha Ananth, Pankaj Ahluwalia, Ravi Kothapalli, Alka Chaubey, Evans Roberts, Dahui Qin, Anthony M. Magliocco, Amyn M. Rojiani, Ravindra Kolhe

Publikováno v: Frontiers in Genetics, Vol 12 (2021)

We describe the clinical validation of a targeted DNA and RNA-based next-generation sequencing (NGS) assay at two clinical molecular diagnostic laboratories. This assay employs simultaneous DNA and RNA analysis of all coding exons to detect small var

Externí odkaz: https://doaj.org/article/8abacc7ff1624b0895b2f5e3cc444080

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Molecular Pathology of Lung Cancer

Autor: James Saller, Theresa A. Boyle

Publikováno v: Cold Spring Harbor perspectives in medicine. 12(3)

This overview of the molecular pathology of lung cancer includes a review of the most salient molecular alterations of the genome, transcriptome, and the epigenome. The insights provided by the growing use of next-generation sequencing (NGS) in lung

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3ee47c50481a9df6d88b6152d7dc3af
https://pubmed.ncbi.nlm.nih.gov/34751163

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