Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Calum Macrae"'
Autor:
Bianca Helena Ventura Fernandes, Mara S. Junqueira, Calum MacRae, Luciani R. Silveira de Carvalho
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionCongenital hypopituitarism (CH) is characterized by the deficiency of pituitary hormones. Among CH patients, 85% lack a molecular diagnosis. Whole Exome Sequencing (WES) identified a homozygous variant (c.865G>A, p.Val289Ile) in the CDH2
Externí odkaz:
https://doaj.org/article/0e6326adee574ceab0445d370ccc4fd2
Publikováno v:
npj Digital Medicine, Vol 6, Iss 1, Pp 1-13 (2023)
Abstract Wearable devices that include pulse oximetry (SpO2) sensing afford the opportunity to capture oxygen saturation measurements from large cohorts under naturalistic conditions. We report here a cross-sectional analysis of 72 million SpO2 value
Externí odkaz:
https://doaj.org/article/e03ad99df3564d8da1180ef1659023f1
Autor:
Vesna Nikolova-Krstevski, PhD, Soeren Wagner, MD, Ze Yan Yu, MD, Charles D. Cox, PhD, Jasmina Cvetkovska, BSc, Adam P. Hill, PhD, Inken G. Huttner, MD, Victoria Benson, PhD, Andreas A. Werdich, PhD, Calum MacRae, MD, PhD, Michael P. Feneley, MD, PhD, Oliver Friedrich, PhD, Boris Martinac, PhD, Diane Fatkin, MD
Publikováno v:
JACC: Basic to Translational Science, Vol 2, Iss 5, Pp 575-590 (2017)
Mechanoelectrical feedback may increase arrhythmia susceptibility, but the molecular mechanisms are incompletely understood. This study showed that mechanical stretch altered the localization, protein levels, and function of the cation-selective tran
Externí odkaz:
https://doaj.org/article/fb6606e688584a0694e79d4098f2e2b6
Autor:
Mao Wang, Patrick Sips, Ester Khin, Maxime Rotival, Ximing Sun, Rizwan Ahmed, Anissa Anindya Widjaja, Sebastian Schafer, Permeen Yusoff, Pervinder Kaur Choksi, Nicole Shi Jie Ko, Manvendra K. Singh, David Epstein, Yuguang Guan, Josef Houštěk, Tomas Mracek, Hana Nuskova, Brittney Mikell, Jessie Tan, Francesco Pesce, Frantisek Kolar, Leonardo Bottolo, Massimiliano Mancini, Norbert Hubner, Michal Pravenec, Enrico Petretto, Calum MacRae, Stuart A Cook
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-12 (2016)
Blood supply to the heart is crucial for cardiac function. Here, the authors show that the mitochondrial tryptophanyl-tRNA synthetase, WARS2, drives blood vessel generation in zebrafish and rats and that inhibition of Wars2 diminishes blood vessel gr
Externí odkaz:
https://doaj.org/article/550ec9cd37e7417c90bb6b8603a4479c
Autor:
Alexander A. Akerberg, Michael Trembley, Vincent Butty, Asya Schwertner, Long Zhao, Manu Beerens, Xujie Liu, Mohammed Mahamdeh, Shiaulou Yuan, Laurie Boyer, Calum MacRae, Christopher Nguyen, William T. Pu, Caroline E. Burns, C. Geoffrey Burns
Publikováno v:
Circulation Research. 131:980-1000
Background: RBPs (RNA-binding proteins) perform indispensable functions in the post-transcriptional regulation of gene expression. Numerous RBPs have been implicated in cardiac development or physiology based on gene knockout studies and the identifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70c804bb11d6c2499dbdd5e485d86911
https://doi.org/10.1161/circresaha.122.321728
https://doi.org/10.1161/circresaha.122.321728
Autor:
Brendan Floyd, Jochen Weile, Prince Kannankeril, Andrew Glazer, Chloe Reuter, Calum MacRae, Euan Ashley, Dan Roden, Frederick Roth, Victoria Parikh
While genetic testing is becoming mainstream in the management of patients with potentially inherited cardiovascular disease, the prevalence of uncertain results severely limits its utility. One promising approach is to generate variant effect maps t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bae50e7e0b1421f806e88462b960ba7b
Wearable devices that include pulse oximetry (SpO2) sensing afford the opportunity to capture oxygen saturation measurements from large cohorts in unconstrained living conditions spanning all hours of the day. We report here a cross-sectional analysi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4f7d7ee117c735d21b45f8a610358395
https://doi.org/10.21203/rs.3.rs-1794670/v1
https://doi.org/10.21203/rs.3.rs-1794670/v1
Autor:
Hannah N. De Jong, Frederick E. Dewey, Pablo Cordero, Rachelle A. Victorio, Anna Kirillova, Yong Huang, Roshni Madhvani, Kinya Seo, Andreas A. Werdich, Feng Lan, Mark Orcholski, W. Robert Liu, Ayca Erbilgin, Matthew T. Wheeler, Rui Chen, Stephen Pan, Young M. Kim, Krishna Bommakanti, Cherisse A. Marcou, J. Martijn Bos, Francois Haddad, Michael Ackerman, Ramachandran S. Vasan, Calum MacRae, Joseph C. Wu, Vinicio de Jesus Perez, Michael Snyder, Victoria N. Parikh, Euan A. Ashley
Publikováno v:
Circulation. Genomic and precision medicine. 15(4)
Background: The study of hypertrophic cardiomyopathy (HCM) can yield insight into the mechanisms underlying the complex trait of cardiac hypertrophy. To date, most genetic variants associated with HCM have been found in sarcomeric genes. Here, we des
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94f0fcc68f4c72fd0014e7176e8c9c55
https://pubmed.ncbi.nlm.nih.gov/35671065
https://pubmed.ncbi.nlm.nih.gov/35671065
Autor:
Tim J, Kamerzell, Brittney, Mikell, Lei, Chen, Harold, Elias, Buddhadeb, Dawn, Calum, MacRae, C Russell, Middaugh
Publikováno v:
Advances in protein chemistry and structural biology. 130
Histone modifying enzymes regulate chromatin architecture through covalent modifications and ultimately control multiple aspects of cellular function. Disruption of histone modification leads to changes in gene expression profiles and may lead to dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e1df1aeb0282ead26630cda3247030f6
https://pubmed.ncbi.nlm.nih.gov/35534108
https://pubmed.ncbi.nlm.nih.gov/35534108
Autor:
Tim J. Kamerzell, Brittney Mikell, Lei Chen, Harold Elias, Buddhadeb Dawn, Calum MacRae, C. Russell Middaugh
Publikováno v:
Protein Design and Structure ISBN: 9780323992299
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9db995eb08e18c929151b3c86f9fb8c5
https://doi.org/10.1016/bs.apcsb.2022.02.004
https://doi.org/10.1016/bs.apcsb.2022.02.004