Functional interactions between retinoblastoma and c-MYC in a mouse model of hepatocellular carcinoma.

Autor: Louis A Saddic, Stacey Wirt, Hannes Vogel, Dean W Felsher, Julien Sage

Publikováno v: PLoS ONE, Vol 6, Iss 5, p e19758 (2011)

Inactivation of the RB tumor suppressor and activation of the MYC family of oncogenes are frequent events in a large spectrum of human cancers. Loss of RB function and MYC activation are thought to control both overlapping and distinct cellular proce

Externí odkaz: https://doaj.org/article/e26492fd9ada4d4090b872cb14577e00

Updated Variant Curation Expert Panel Criteria and Pathogenicity Classifications for 251 Variants for RYR1-related Malignant Hyperthermia Susceptibility

Autor: Jennifer J Johnston, Robert T Dirksen, Thierry Girard, Phil M Hopkins, Natalia Kraeva, Mungunsukh Ognoon, K Bailey Radenbaugh, Sheila Riazi, Rachel L Robinson, Louis A Saddic, III, Nyamkhishig Sambuughin, Richa Saxena, Sarah Shepherd, Kathryn Stowell, James Weber, Seeley Yoo, Henry Rosenberg, Leslie G Biesecker

The ClinGen malignant hyperthermia susceptibility (MHS) variant curation expert panel specified the ACMG/AMP criteria for RYR1-related MHS and a pilot analysis of 84 variants was published. We have now classified an additional 251 variants for RYR1-r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ea3ac5967860f9b5cc51dddd7bc3bb5
https://doi.org/10.1101/2022.06.23.497341

Novel and Annotated Long Noncoding RNAs Associated with Ischemia in the Human Heart

Autor: Anna P. Pilbrow, Simon C. Body, Allison L. Miller, Sebastian Schmeier, Martin I. Sigurdsson, Vicky A. Cameron, Josh Gorham, Wendy E. Sweet, Jonathan G. Seidman, Jochen D. Muehlschlegel, John F. Pearson, Arthur Morley-Bunker, Louis A. Saddic, Christine S. Moravec, Sary F. Aranki, Zoe Ward

Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 11324, p 11324 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 21

Background: Long noncoding RNAs (lncRNAs) have been implicated in the pathogenesis of cardiovascular diseases. We aimed to identify novel lncRNAs associated with the early response to ischemia in the heart. Methods and Results: RNA sequencing data ga

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d3260f61e20051bacaff111a4e396e0
https://www.mdpi.com/1422-0067/22/21/11324

Double-edged sword of ALDH2 mutations: one polymorphism can both benefit and harm the cardiovascular system

Autor: Louis A. Saddic, Francesca Bartoli-Leonard, Elena Aikawa

Publikováno v: Eur Heart J

Aortic aneurysm/dissection (AAD) is a life-threatening disorder lacking effective pharmacotherapeutic remedies. Aldehyde dehydrogenase 2 (ALDH2) polymorphism is tied with various risk factors for AAD including hypertension, atherosclerosis, and hyper

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35cd40442835a7617bea7560eeb31beb
https://doi.org/10.1093/eurheartj/ehaa444

Intraoperative diastolic function assessed by TEE does not agree with preoperative diastolic function grade in CABG patients

Autor: Sean Mofidi, Jacques Neelankavil, Reed Harvey, Louis A. Saddic, Jennifer Scovotti, Vivek Chellappa

Publikováno v: Echocardiography (Mount Kisco, N.Y.)REFERENCES. 38(8)

OBJECTIVE To compare the agreement of the 2016 ASE/EACVI guidelines for grading diastolic dysfunction (DD) with the most commonly used intraoperative transesophageal echocardiography (TEE)-based diastolic function grading algorithm in cardiac surgica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb264b0d54192e998f5696c2bc2a6607
https://pubmed.ncbi.nlm.nih.gov/34255390