Zobrazeno 1 - 10
of 6 217
pro vyhledávání: '"C. Anthony"'
Autor:
Alison H. Howie, Kylie Tingley, Michal Inbar-Feigenberg, John J. Mitchell, Kim Angel, Jenifer Gentle, Maureen Smith, Martin Offringa, Nancy J. Butcher, Philippe M. Campeau, Pranesh Chakraborty, Alicia Chan, Dean Fergusson, Eva Mamak, Peyton McClelland, Saadet Mercimek-Andrews, Aizeddin Mhanni, Zeinab Moazin, Cheryl Rockman-Greenberg, C. Anthony Rupar, Becky Skidmore, Sylvia Stockler, Kednapa Thavorn, Alexandra Wyatt, Beth K. Potter, INFORM RARE Network
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
Abstract Background To inform the development of a core outcome set (COS) for children and youth with mucopolysaccharidoses (MPS), we aimed to identify all outcomes and associated outcome measurement instruments that are reported in recent clinical t
Externí odkaz:
https://doaj.org/article/3f5faa2b5e894b579d9b0f0a9ed05831
Autor:
Angeliki Angelopoulou, Hugh M. B. Harris, Alicja K. Warda, Carol-Anne O'Shea, Aonghus Lavelle, C. Anthony Ryan, Eugene Dempsey, Catherine Stanton, Colin Hill, R. Paul Ross
Publikováno v:
Microbiology Spectrum, Vol 12, Iss 10 (2024)
ABSTRACT Subclinical mastitis is an asymptomatic inflammatory condition that can be difficult to define and diagnose. In the dairy industry, subclinical mastitis is diagnosed by milk somatic cell counts (SCCs) of ≥250,000 cells mL−1. In this pilo
Externí odkaz:
https://doaj.org/article/1ac20c1f94dc4b2cbc5340fa60bb5020
Autor:
Anna C. Salvador, M. Nazmul Huda, Danny Arends, Ahmed M. Elsaadi, C. Anthony Gacasan, Gudrun A. Brockmann, William Valdar, Brian J. Bennett, David W. Threadgill
Publikováno v:
Microbiome, Vol 11, Iss 1, Pp 1-21 (2023)
Abstract Background The gut microbiota is modulated by a combination of diet, host genetics, and sex effects. The magnitude of these effects and interactions among them is important to understanding inter-individual variability in gut microbiota. In
Externí odkaz:
https://doaj.org/article/b402e2ffdfaf458f8c7d6ff0c082a0a0
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundEarly-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL-1) is an autosomal recessive disorder whereby a fluctuating clinical course is exacerbated by febrile illnesses. Pathogenic NAD(P)HX epimerase (NAXE)
Externí odkaz:
https://doaj.org/article/7b2cbf5177b0492eafc118dc319b95a3
Autor:
Jeffrey C. Lotz, Glen Ropella, Paul Anderson, Qian Yang, Michael A. Hedderich, Jeannie Bailey, C. Anthony Hunt
Publikováno v:
JOR Spine, Vol 6, Iss 4, Pp n/a-n/a (2023)
Abstract Chronic low back pain (LBP) is influenced by a broad spectrum of patient‐specific factors as codified in domains of the biopsychosocial model (BSM). Operationalizing the BSM into research and clinical care is challenging because most inves
Externí odkaz:
https://doaj.org/article/6eb347be672744c29bd662991e3a2e5e
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-18 (2023)
Abstract There are an estimated 6–10 million smokeless tobacco (Toombak) users in Sudan, the majority being males. Toombak is known to be a carcinogenic product that is likely to modify the oral microbiome spatiality into a high-risk potential for
Externí odkaz:
https://doaj.org/article/9e76b1057b85421f85b22eac36db4595
Autor:
Amr H. Saleh, Michael Rothe, Dwayne L. Barber, William M. McKillop, Graeme Fraser, Chantal F. Morel, Axel Schambach, Christiane Auray-Blais, Michael L. West, Aneal Khan, Daniel H. Fowler, C. Anthony Rupar, Ronan Foley, Jeffrey A. Medin, Armand Keating
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 28, Iss , Pp 262-271 (2023)
The safety and efficacy of lentivirus-mediated gene therapy was recently demonstrated in five male patients with Fabry disease—a rare X-linked lysosomal storage disorder caused by GLA gene mutations that result in multiple end-organ complications.
Externí odkaz:
https://doaj.org/article/94ca546755434fd5983165124cd0e623
Autor:
Montaha Almudhry, Arushi Gahlot Saini, Mohammed A. Al-Omari, Yashu Sharma, Maryam Nabavi Nouri, C. Anthony Rupar, Chitra Prasad, Andrea C. Yu, Savita Verma Attri, Asuri Narayan Prasad
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundMitochondrial DNA (mtDNA) depletion syndromes (MDDS) are genetically and clinically variable disorders resulting from a reduction in mtDNA content in the cells, tissues, and organ systems, leading to symptoms related to energy deficits. Def
Externí odkaz:
https://doaj.org/article/95cf92e5f71543ae952641731392dc85
Autor:
Montaha Almudhry, Asuri N. Prasad, C. Anthony Rupar, Keng Yeow Tay, Suzanne Ratko, Mary E. Jenkins, Chitra Prasad
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundMolybdenum cofactor deficiency (MoCD) (OMIM# 252150) is an autosomal-recessive disorder caused by mutations in four genes involved in the molybdenum cofactor (MOCO) biosynthesis pathway.ObjectivesWe report a milder phenotype in a patient wi
Externí odkaz:
https://doaj.org/article/77688a34b6584fefa2932cfdf9d1af5f
Autor:
Chathura J. Gunasekara, Harry MacKay, C. Anthony Scott, Shaobo Li, Eleonora Laritsky, Maria S. Baker, Sandra L. Grimm, Goo Jun, Yumei Li, Rui Chen, Joseph L. Wiemels, Cristian Coarfa, Robert A. Waterland
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-20 (2023)
Abstract Background Genetic variants can modulate phenotypic outcomes via epigenetic intermediates, for example at methylation quantitative trait loci (mQTL). We present the first large-scale assessment of mQTL at human genomic regions selected for i
Externí odkaz:
https://doaj.org/article/d2673718183743649c5bae8c0315c583