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Now showing items 1531-1540 of 4425
Three-dimensional cardiovascular imaging-genetics: a mass univariate framework.
(OXFORD UNIV PRESS, 2018-01-01)
MOTIVATION: Left ventricular (LV) hypertrophy is a strong predictor of cardiovascular outcomes, but its genetic regulation remains largely unexplained. Conventional phenotyping relies on manual calculation of LV mass and ...
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
(NATURE PUBLISHING GROUP, 2018-03-01)
PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical ...
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.
(NATURE PUBLISHING GROUP, 2018-10-01)
PURPOSE: Internationally adopted variant interpretation guidelines from the American College of Medical Genetics and Genomics (ACMG) are generic and require disease-specific refinement. Here we developed CardioClassifier ...
Leveraging multi-layer imager detector design to improve low-dose performance for megavoltage cone-beam computed tomography.
(IOP PUBLISHING LTD, 2018-01-30)
While megavoltage cone-beam computed tomography (CBCT) using an electronic portal imaging device (EPID) provides many advantages over kilovoltage (kV) CBCT, clinical adoption is limited by its high doses. Multi-layer imager ...
Adjuvant Pertuzumab and Trastuzumab in Early HER2-Positive Breast Cancer.
(MASSACHUSETTS MEDICAL SOC, 2017-07-13)
BACKGROUND: Pertuzumab increases the rate of pathological complete response in the preoperative context and increases overall survival among patients with metastatic disease when it is added to trastuzumab and chemotherapy ...
Perioperative events influence cancer recurrence risk after surgery.
(NATURE PUBLISHING GROUP, 2018-04-01)
Surgery is a mainstay treatment for patients with solid tumours. However, despite surgical resection with a curative intent and numerous advances in the effectiveness of (neo)adjuvant therapies, metastatic disease remains ...
Circulating anti-Müllerian hormone and breast cancer risk: A study in ten prospective cohorts.
(WILEY, 2018-06-01)
A strong positive association has been observed between circulating anti-Müllerian hormone (AMH), a biomarker of ovarian reserve, and breast cancer risk in three prospective studies. Confirming this association is important ...
Differential impact of RB status on E2F1 reprogramming in human cancer.
(AMER SOC CLINICAL INVESTIGATION INC, 2018-01-02)
The tumor suppressor protein retinoblastoma (RB) is mechanistically linked to suppression of transcription factor E2F1-mediated cell cycle regulation. For multiple tumor types, loss of RB function is associated with poor ...
Mathematical modeling identifies optimum lapatinib dosing schedules for the treatment of glioblastoma patients.
(PUBLIC LIBRARY SCIENCE, 2018-01-01)
Human primary glioblastomas (GBM) often harbor mutations within the epidermal growth factor receptor (EGFR). Treatment of EGFR-mutant GBM cell lines with the EGFR/HER2 tyrosine kinase inhibitor lapatinib can effectively ...
Structural basis of RNA polymerase III transcription initiation.
(NATURE PORTFOLIO, 2018-01-17)
RNA polymerase (Pol) III transcribes essential non-coding RNAs, including the entire pool of transfer RNAs, the 5S ribosomal RNA and the U6 spliceosomal RNA, and is often deregulated in cancer cells. The initiation of gene ...