Zobrazeno 1 - 10
of 135
pro vyhledávání: '"Henian Cao"'
Autor:
Jacqueline S. Dron, Jian Wang, Adam D. McIntyre, Michael A. Iacocca, John F. Robinson, Matthew R. Ban, Henian Cao, Robert A. Hegele
Publikováno v:
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-15 (2020)
Abstract Background In 2013, our laboratory designed a targeted sequencing panel, “LipidSeq”, to study the genetic determinants of dyslipidemia and metabolic disorders. Over the last 6 years, we have analyzed 3262 patient samples obtained from ou
Externí odkaz:
https://doaj.org/article/28dc19075a0641c6a6292868b5ae2c58
Autor:
Jacqueline S. Dron, Jian Wang, Adam D. McIntyre, Henian Cao, John F. Robinson, P. Barton Duell, Priya Manjoo, James Feng, Irina Movsesyan, Mary J. Malloy, Clive R. Pullinger, John P. Kane, Robert A. Hegele
Publikováno v:
Journal of Lipid Research, Vol 60, Iss 11, Pp 1953-1958 (2019)
Severe hypertriglyceridemia (HTG) is a relatively common form of dyslipidemia with a complex pathophysiology and serious health complications. HTG can develop in the presence of rare genetic factors disrupting genes involved in the triglyceride (TG)
Externí odkaz:
https://doaj.org/article/cdf329801bed4b7895839adade6cadb7
Autor:
Jacqueline S. Dron, Jian Wang, Amanda J. Berberich, Michael A. Iacocca, Henian Cao, Ping Yang, Joan Knoll, Karine Tremblay, Diane Brisson, Christian Netzer, Ioanna Gouni-Berthold, Daniel Gaudet, Robert A. Hegele
Publikováno v:
Journal of Lipid Research, Vol 59, Iss 8, Pp 1529-1535 (2018)
Copy-number variations (CNVs) have been studied in the context of familial hypercholesterolemia but have not yet been evaluated in patients with extreme levels of HDL cholesterol. We evaluated targeted, next-generation sequencing data from patients w
Externí odkaz:
https://doaj.org/article/9cfb22c50af84d239cdf6c4e4be0b0b6
Autor:
Jacqueline S. Dron, Jian Wang, Cécile Low-Kam, Sumeet A. Khetarpal, John F. Robinson, Adam D. McIntyre, Matthew R. Ban, Henian Cao, David Rhainds, Marie-Pierre Dubé, Daniel J. Rader, Guillaume Lettre, Jean-Claude Tardif, Robert A. Hegele
Publikováno v:
Journal of Lipid Research, Vol 58, Iss 11, Pp 2162-2170 (2017)
HDL cholesterol (HDL-C) remains a superior biochemical predictor of CVD risk, but its genetic basis is incompletely defined. In patients with extreme HDL-C concentrations, we concurrently evaluated the contributions of multiple large- and small-effec
Externí odkaz:
https://doaj.org/article/7b43580fc25d40829bb71de0014a9f87
Autor:
Michael A. Iacocca, Jian Wang, Jacqueline S. Dron, John F. Robinson, Adam D. McIntyre, Henian Cao, Robert A. Hegele
Publikováno v:
Journal of Lipid Research, Vol 58, Iss 11, Pp 2202-2209 (2017)
Familial hypercholesterolemia (FH) is a heritable condition of severely elevated LDL cholesterol, caused predominantly by autosomal codominant mutations in the LDL receptor gene (LDLR). In providing a molecular diagnosis for FH, the current procedure
Externí odkaz:
https://doaj.org/article/d4c75bf63dba444289c49025dd44bc2b
Autor:
Christopher T. Johansen, Joseph B. Dubé, Melissa N. Loyzer, Austin MacDonald, David E. Carter, Adam D. McIntyre, Henian Cao, Jian Wang, John F. Robinson, Robert A. Hegele
Publikováno v:
Journal of Lipid Research, Vol 55, Iss 4, Pp 765-772 (2014)
We report the design of a targeted resequencing panel for monogenic dyslipidemias, LipidSeq, for the purpose of replacing Sanger sequencing in the clinical detection of dyslipidemia-causing variants. We also evaluate the performance of the LipidSeq a
Externí odkaz:
https://doaj.org/article/85f9d133084842979e7756100363a79d
Autor:
Piya Lahiry, Henian Cao, Matthew R. Ban, Rebecca L. Pollex, Mary Mamakeesick, Bernard Zinman, Stewart B. Harris, Anthony J.G. Hanley, Murray W. Huff, Philip W. Connelly, Robert A. Hegele
Publikováno v:
Journal of Lipid Research, Vol 51, Iss 4, Pp 843-848 (2010)
Apolipoprotein (apo) C-I is a constituent of chylomicrons, very low density lipoprotein, and high density lipoprotein. The role of apo C-I in human metabolism is incompletely defined. We took advantage of a naturally occurring amino acid polymorphism
Externí odkaz:
https://doaj.org/article/20d928eb15f7486ca205a761e9c5a8c3
Autor:
Chandheeb Rajakumar, Matthew R. Ban, Henian Cao, T. Kue Young, Peter Bjerregaard, Robert A. Hegele
Publikováno v:
Journal of Lipid Research, Vol 50, Iss 6, Pp 1223-1228 (2009)
Carnitine palmitoyltransferase IA, encoded by CPT1A, is a key regulator of fatty acid metabolism. Previously, a loss-of-function mutation, namely, c.1436 C→T (p.P479L), was reported in CPT1A in the homozygous state in Canadian aboriginal male with
Externí odkaz:
https://doaj.org/article/d386e5f5b5e44adeb8d1c6b0ce496daf
Autor:
Jacqueline S. Dron, Adam D. McIntyre, Stephen W. Scherer, Julieta Lazarte, Emma L. Leach, Robert A. Hegele, Zachary Laksman, Brett Trost, Jason D. Roberts, John F. Robinson, Jian Wang, Peter Leong-Sit, Lorne J. Gula, Allan C. Skanes, Henian Cao, Janet Liew
Publikováno v:
Europace
Aims Atrial fibrillation (AF) is a complex heritable disease whose genetic underpinnings remain largely unexplained, though recent work has suggested that the arrhythmia may develop secondary to an underlying atrial cardiomyopathy. We sought to evalu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d31aa4c5be86c76668542e574dcfd4ec
https://doi.org/10.1093/europace/euaa421
https://doi.org/10.1093/europace/euaa421
Autor:
Robert Stein, Tamara Spaic, Ping Yang, Henian Cao, Suzanne Stock, Céline Huot, David B. Miller, Adam D. McIntyre, Jian Wang, Joan H.M. Knoll, John F. Robinson, Amanda J. Berberich, Robert A. Hegele
Publikováno v:
Canadian Journal of Diabetes. 45:71-77
Objectives Copy-number variations (CNVs) are large-scale deletions or duplications of DNA that have required specialized detection methods, such as microarray-based genomic hybridization or multiplex ligation probe amplification. However, recent adva
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21b5a5b4397feb010948837bbfb7d323
https://doi.org/10.1016/j.jcjd.2020.06.001
https://doi.org/10.1016/j.jcjd.2020.06.001