Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Maryanne Mattice"'
Autor:
Roshni R. Singaraja, Ian Tietjen, G. Kees Hovingh, Patrick L. Franchini, Chris Radomski, Kenny Wong, Margaret vanHeek, Ioannis M. Stylianou, Linus Lin, Liangsu Wang, Lyndon Mitnaul, Brian Hubbard, Michael Winther, Maryanne Mattice, Annick Legendre, Robin Sherrington, John J. Kastelein, Karen Akinsanya, Andrew Plump, Michael R. Hayden
Publikováno v:
Journal of Lipid Research, Vol 55, Iss 8, Pp 1693-1701 (2014)
While genetic determinants strongly influence HDL cholesterol (HDLc) levels, most genetic causes underlying variation in HDLc remain unknown. We aimed to identify novel rare mutations with large effects in candidate genes contributing to extreme HDLc
Externí odkaz:
https://doaj.org/article/3119e73763574be8bb7cf6c60fea70f6
Autor:
Ian Tietjen, G Kees Hovingh, Roshni R Singaraja, Chris Radomski, Amina Barhdadi, Jason McEwen, Elden Chan, Maryanne Mattice, Annick Legendre, Patrick L Franchini, Marie-Pierre Dubé, John J P Kastelein, Michael R Hayden
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e37437 (2012)
To date, few mutations are described to underlie highly-elevated HDLc levels in families. Here we sequenced the coding regions and adjacent sequence of the LIPG, CETP, and GALNT2 genes in 171 unrelated Dutch Caucasian probands with HDLc≥90th percen
Externí odkaz:
https://doaj.org/article/be9c3f98d4954bc49d2e4c75968f1230
Autor:
John J.P. Kastelein, G. Kees Hovingh, Maryanne Mattice, Jason McEwen, Michael R. Hayden, Elden Chan, Roshni R. Singaraja, Chris Radomski, Annick Legendre, Ian Tietjen
Publikováno v:
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS, 1821(3), 416-424. Elsevier
Mutations in ABCA1, APOA1, and LCAT reduce HDL cholesterol (HDLc) in humans. However, the prevalence of these mutations and their relative effects on HDLc reduction and risk of coronary artery disease (CAD) are less clear. Here we searched for ABCA1,
Autor:
Michael Winther, Chris Radomski, Linus S. Lin, Patrick Franchini, G. Kees Hovingh, Karen O. Akinsanya, Maryanne Mattice, Michael R. Hayden, Robin Sherrington, Margaret vanHeek, Annick Legendre, Ioannis M. Stylianou, Roshni R. Singaraja, Brian K. Hubbard, Liangsu Wang, John J.P. Kastelein, Andrew S. Plump, Lyndon J. Mitnaul, Kenny K. Wong, Ian Tietjen
Publikováno v:
Journal of lipid research, 55(8), 1693-1701. American Society for Biochemistry and Molecular Biology Inc.
Journal of Lipid Research, Vol 55, Iss 8, Pp 1693-1701 (2014)
Journal of Lipid Research, Vol 55, Iss 8, Pp 1693-1701 (2014)
While genetic determinants strongly influence HDL cholesterol (HDLc) levels, most genetic causes underlying variation in HDLc remain unknown. We aimed to identify novel rare mutations with large effects in candidate genes contributing to extreme HDLc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::419aaded4b36fbcb1f6d771e259951ba
https://pure.amc.nl/en/publications/identification-of-four-novel-genes-contributing-to-familial-elevated-plasma-hdl-cholesterol-in-humans(38861fa3-1018-4696-a5f6-6ef8c28fa8eb).html
https://pure.amc.nl/en/publications/identification-of-four-novel-genes-contributing-to-familial-elevated-plasma-hdl-cholesterol-in-humans(38861fa3-1018-4696-a5f6-6ef8c28fa8eb).html
Autor:
Zaihui Zhang, Jing Zhong, Laszlo G. Ratkay, Jay Thompson, Jianmin Fu, Joseph Sanghara, Rainbow Kwan, Cadieux Jean-Jacques, Y. Paul Goldberg, Maryanne Mattice, Alison Brownlie-Cutts
Publikováno v:
Bioorganicmedicinal chemistry letters. 22(1)
Three distinct series of substituted pyrazole blockers of divalent metal transporter 1 (DMT1) were elaborated from the high-throughput screening pyrazolone hit 1. Preliminary hit-to-lead efforts revealed a preference for electron-withdrawing substitu
Autor:
Liam R. Brunham, Annick Legendre, J.J.P. Kastelein, C Radomski, Roshni R. Singaraja, Andrea E. Bochem, Ian Tietjen, G.K. Hovingh, Patrick Franchini, Michael R. Hayden, Maryanne Mattice
Publikováno v:
Clinical genetics, 79(6), 575-581. Wiley-Blackwell
The scavenger receptor class B, member 1 (SR-BI), is a key cellular receptor for high-density lipoprotein (HDL) in mice, but its relevance to human physiology has not been well established. Recently a family was reported with a mutation in the gene e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38829b70a5a31f69fa1614f8216b1532
https://pure.amc.nl/en/publications/novel-mutations-in-scavenger-receptor-bi-associated-with-high-hdl-cholesterol-in-humans(62dffac6-4839-4b45-ac66-cc022ade0c80).html
https://pure.amc.nl/en/publications/novel-mutations-in-scavenger-receptor-bi-associated-with-high-hdl-cholesterol-in-humans(62dffac6-4839-4b45-ac66-cc022ade0c80).html
Autor:
E Toscano, Generoso Andria, C Young, BG Sibley, Mark E. Samuels, Marcia L.E. MacDonald, B Payne, HB Younghusband, JH Dimon, G Donaldson, Sakiat Hossain, A Duff, Maryanne Mattice, Julie MacFarlane, Jay Thompson, D Bowsher, Simon N. Pimstone, E Boltshauser, Hayden, R Fraser, Robin Sherrington, Elizabeth Ives, J Kerdraon, Y P Goldberg, GA Grinspan, Roger C. Green, Terry D Pape, C Radomski, J Cox, M-P Dubé
Publikováno v:
Clinical genetics. 71(4)
Congenital indifference to pain (CIP) is a rare condition in which patients have severely impaired pain perception, but are otherwise essentially normal. We identified and collected DNA from individuals from nine families of seven different nationali