Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Anna-Kaisa Niemi"'
Autor:
Mallory J. Owen, Sebastien Lefebvre, Christian Hansen, Chris M. Kunard, David P. Dimmock, Laurie D. Smith, Gunter Scharer, Rebecca Mardach, Mary J. Willis, Annette Feigenbaum, Anna-Kaisa Niemi, Yan Ding, Luca Van Der Kraan, Katarzyna Ellsworth, Lucia Guidugli, Bryan R. Lajoie, Timothy K. McPhail, Shyamal S. Mehtalia, Kevin K. Chau, Yong H. Kwon, Zhanyang Zhu, Sergey Batalov, Shimul Chowdhury, Seema Rego, James Perry, Mark Speziale, Mark Nespeca, Meredith S. Wright, Martin G. Reese, Francisco M. De La Vega, Joe Azure, Erwin Frise, Charlene Son Rigby, Sandy White, Charlotte A. Hobbs, Sheldon Gilmer, Gail Knight, Albert Oriol, Jerica Lenberg, Shareef A. Nahas, Kate Perofsky, Kyu Kim, Jeanne Carroll, Nicole G. Coufal, Erica Sanford, Kristen Wigby, Jacqueline Weir, Vicki S. Thomson, Louise Fraser, Seka S. Lazare, Yoon H. Shin, Haiying Grunenwald, Richard Lee, David Jones, Duke Tran, Andrew Gross, Patrick Daigle, Anne Case, Marisa Lue, James A. Richardson, John Reynders, Thomas Defay, Kevin P. Hall, Narayanan Veeraraghavan, Stephen F. Kingsmore
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
Rapid diagnosis and implementation of treatments is crucial in many genetic conditions. Here the authors describe Genome-to-Treatment, a virtual disease management system that can achieve a rapid diagnosis by expedited whole genome sequencing in 13.5
Externí odkaz:
https://doaj.org/article/c8a8f4d045b24f4586c6fb67d44e877e
Autor:
Rebecca Carter, Anna-Kaisa Niemi
Publikováno v:
Platelets, Vol 33, Iss 4, Pp 649-651 (2022)
Noonan syndrome (NS) is a genetic disorder with distinctive physical features and often multiple organ involvement. Bleeding disorders are reported in over half of patients with NS, including thrombocytopenia and platelet dysfunction. Neonatal alloim
Externí odkaz:
https://doaj.org/article/bcbd079d17434d86808daa87af4bead2
Autor:
Karri Kaivola, Samuli J. Salmi, Lilja Jansson, Jyrki Launes, Laura Hokkanen, Anna-Kaisa Niemi, Kari Majamaa, Jari Lahti, Johan G. Eriksson, Timo Strandberg, Hannu Laaksovirta, Pentti J. Tienari
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-9 (2020)
Abstract The hexanucleotide repeat expansion in intron 1 of the C9orf72 gene causes amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. In addition to the effects of the pathogenic expansion, a role of intermediate-length alleles has bee
Externí odkaz:
https://doaj.org/article/a038801e63d04347b39d721d50f892dc
Publikováno v:
BMC Genomics, Vol 20, Iss 1, Pp 1-7 (2019)
Abstract Background We have previously reported on paucity of mitochondrial DNA (mtDNA) haplogroups J and K among Finnish endurance athletes. Here we aimed to further explore differences in mtDNA variants between elite endurance and sprint athletes.
Externí odkaz:
https://doaj.org/article/74c271da683c4b4082f6f3a6c921ba49
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 129-132 (2014)
The pathophysiology of succinic semialdehyde dehydrogenase (SSADH) deficiency is not completely understood. Oxidative stress, mitochondrial pathology, and low reduced glutathione levels have been demonstrated in mice, but no studies have been reporte
Externí odkaz:
https://doaj.org/article/14b9a82dbffb4ef2a753f704a34392ec
Autor:
Anna-Kaisa Niemi
Publikováno v:
Children, Vol 4, Iss 4, p 21 (2017)
Preterm birth affects about 10% of infants born in the United States. Massage therapy is being used in some neonatal intensive care units for its potential beneficial effects on preterm infants. This article reviews published randomized controlled tr
Externí odkaz:
https://doaj.org/article/907f67bd2a68476b9e1c9f4519fadbd7
Autor:
Gregory M Enns, Tereza Moore, Anthony Le, Kondala Atkuri, Monisha K Shah, Kristina Cusmano-Ozog, Anna-Kaisa Niemi, Tina M Cowan
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e100001 (2014)
Mitochondrial disorders are associated with decreased energy production and redox imbalance. Glutathione plays a central role in redox signaling and protecting cells from oxidative damage. In order to understand the consequences of mitochondrial dysf
Externí odkaz:
https://doaj.org/article/7aabf3dc50c04553ab6ccfefee5d05ed
Autor:
Rebecca Carter, Anna-Kaisa Niemi
Publikováno v:
Platelets. 33:649-651
Noonan syndrome (NS) is a genetic disorder with distinctive physical features and often multiple organ involvement. Bleeding disorders are reported in over half of patients with NS, including thrombocytopenia and platelet dysfunction. Neonatal alloim
Autor:
Anna-Kaisa Niemi, Kevin Hall, Meredith S. Wright, Mark Speziale, Louise Fraser, Jerica Lenberg, Shimul Chowdhury, Tim K McPhail, Sergey Batalov, Luca Van Der Kraan, Kevin K Chau, David Dimmock, Vicki S Thomson, Christian Hansen, Yan Ding, Mark Nespeca, Shyamal S Mehtalia, Sheldon Gilmer, Stephen F. Kingsmore, Mallory J Owen, Zhanyang Zhu, Gail Knight, Chris M Kunard, Charlotte A. Hobbs, Jacqueline Weir, John Reynders, Narayanan Veeraraghavan, Bryan R. Lajoie, Sebastien Lefebvre, Shareef Nahas, Thomas Defay
Publikováno v:
N Engl J Med
Speedy Genetic Diagnosis Infantile encephalopathy is associated with approximately 1500 genetic diseases. Without prompt treatment, permanent neurologic injury or death may occur. Here, the genome ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90fdf8243084399b2bccf87ef969c176
https://europepmc.org/articles/PMC9844116/
https://europepmc.org/articles/PMC9844116/
Autor:
Valerie Y. Chock, Anna-Kaisa Niemi
Publikováno v:
The Journal of Pediatrics. 208:282-286
We assessed the utility of near-infrared spectroscopy to evaluate neonates with mitochondrial disorders. We observed abnormally high cerebral oxygen saturation levels indicating insufficient tissue oxygen utilization. We propose that near-infrared sp