Zobrazeno 1 - 10
of 78
pro vyhledávání: '"John Cardinal"'
Autor:
Craig Winter, Tracy Bjorkman, Stephanie Miller, Paul Nichols, John Cardinal, Peter O’Rourke, Emma Ballard, Fatima Nasrallah, Viktor Vegh
Publikováno v:
Frontiers in Physiology, Vol 12 (2021)
Purpose: The recognition and treatment of high-altitude illness (HAI) is increasingly important in global emergency medicine. High altitude related hypobaric hypoxia can lead to acute mountain sickness (AMS), which may relate to increased expression
Externí odkaz:
https://doaj.org/article/e4784ae947994b2a98c00e27ab729feb
Publikováno v:
Clinics and Practice, Vol 8, Iss 3 (2018)
The SYNE1 (spectrin repeat-containing nuclear envelope protein 1) gene encodes a family of spectrin structural proteins that are associated with anchoring the plasma membrane to the actin cytoskeleton. SYNE1-related disease is most commonly reported
Externí odkaz:
https://doaj.org/article/6f3428c67dbc4741bc398851c9540a6e
Autor:
O'Connor, John Cardinal
Publikováno v:
Human Life Review. Summrer2024, Vol. 50 Issue 3/4, p150-152. 3p.
Publikováno v:
Case Reports in Genetics, Vol 2020 (2020)
COPA syndrome is a recently described autosomal dominant disorder with key immune dysregulation caused by defects within the COPA gene. These mutations lead to endoplasmic reticulum stress and autoimmune response with upregulation of Th17 cytokines.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7197babbdf1db67b122b0e2d7d97c6c
https://doi.org/10.1155/2020/8414857
https://doi.org/10.1155/2020/8414857
Autor:
Krol, John Cardinal
Publikováno v:
The Annals of the American Academy of Political and Social Science, 1983 Sep 01. 469, 38-45.
Externí odkaz:
https://www.jstor.org/stable/1044533
Publikováno v:
Case Reports in Genetics, Vol 2018 (2018)
Case Reports in Genetics
Case Reports in Genetics
Hajdu-Cheney Syndrome (HSC) is a rare multisystem disease in which the phenotype involves acro-osteolysis, severe osteoporosis, short stature, wormian bones, facial dysmorphism, central neurological abnormalities, cardiovascular defects, and polycyst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ea42a0d602a1feea19e60dc96c09850
https://doi.org/10.1155/2018/2508345
https://doi.org/10.1155/2018/2508345
Publikováno v:
Neurological Sciences
Hypobaric hypoxic brain injury results in elevated peripheral S100B levels which may relate to blood-brain barrier (BBB) dysfunction. A period of acclimatisation or dexamethasone prevents altitude-related illnesses and this may involve attenuation of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95898c3ebb35ad2da624ab18d5f814b5
https://doi.org/10.1007/s10072-016-2521-1
https://doi.org/10.1007/s10072-016-2521-1
Autor:
Queenie Z. Gray, Gerald Gibot, Stuart Macmillan, Archie Antoine, Ron Campbell, Bruce Maclean, Larry Marten, Ross Campbell, George \\'Sloan\\' Whiteknife, John McKinnon, Jason R. Straka, George Marten, John Cardinal, Walter Ladouceur, Ray Ladouceur, Freddy Marcel, Lucy D. Patterson, David Campbell, Rene Bruno, Sharon Irwin, Rhona Kindopp, Charlie Voyageur, Morgan Voyageur, Jessica Lankshear, Leslie Wiltzen
Publikováno v:
ARCTIC. 71
Elders and Indigenous land users in the Peace-Athabasca Delta (PAD) have observed a dramatic decline in the relative abundance of muskrat in recent decades (~1935–2014). The main explanation for the decline has been reduction in suitable habitat as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::800bea6b851af9372513d3a9a04f4fa2
https://doi.org/10.14430/arctic4714
https://doi.org/10.14430/arctic4714
Autor:
Sinje Geuer, Udo F. H. Engelke, John Cardinal, James McGill, James Pitt, Hans R. Waterham, Janet Koster, John Christodoulou, Anita Inwood, David Coman, Barbra Hallinan, Lisenka E.L.M. Vissers, Sarah Hopkins, Larry Sweetman, Roxanna Hauck, T. Andrew Burrow, Lisa G. Riley, Christine Gurnsey, Ron A. Wevers, Michael Kwint
Publikováno v:
American journal of human genetics, 103(1), 125-130. Cell Press
American Journal of Human Genetics, 103, 1, pp. 125-130
American Journal of Human Genetics, 103, 125-130
American Journal of Human Genetics, 103, 1, pp. 125-130
American Journal of Human Genetics, 103, 125-130
Mendelian disorders of cholesterol biosynthesis typically result in multi-system clinical phenotypes, underlining the importance of cholesterol in embryogenesis and development. FDFT1 encodes for an evolutionarily conserved enzyme, squalene synthase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f08d95df8c9a8b78a8aa55dd91fa106d
https://pure.amc.nl/en/publications/squalene-synthase-deficiency-clinical-biochemical-and-molecular-characterization-of-a-defect-in-cholesterol-biosynthesis(b584ad9a-21ee-453c-8138-6bb2a2566d74).html
https://pure.amc.nl/en/publications/squalene-synthase-deficiency-clinical-biochemical-and-molecular-characterization-of-a-defect-in-cholesterol-biosynthesis(b584ad9a-21ee-453c-8138-6bb2a2566d74).html
