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Items: 20

1.
Early echocardiographic signs of cardiovascular affection in pediatric familial hypercholesterolemia
Hossam Ibrahim, Hend Saad, Osama Abdelaziz, Gaser Abdelmohsen
Eur J Pediatr. 2023; 182(10): 4389–4397. Published online 2023 Jul 21. doi: 10.1007/s00431-023-05094-x
PMCID:
PMC10587190
AbstractArticlePDF–1.1M
2.
Acute coronary syndrome in an 8-year-old child with familial hypercholesterolemia: a case report
Nan Wang, Ying Wei, Gang Zhou, Yue Zhang, Jiyang Song
J Med Case Rep. 2022; 16: 290. Published online 2022 Jul 26. doi: 10.1186/s13256-022-03488-3
PMCID:
PMC9316422
AbstractArticlePDF–6.2M
3.
Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?
Lakshmi Lavanya Reddy, Swarup A.V. Shah, Tester F. Ashavaid
Indian Heart J. 2022 Jan-Feb; 74(1): 1–6. Published online 2021 Dec 4. doi: 10.1016/j.ihj.2021.11.185
PMCID:
PMC8891005
AbstractArticlePDF–509K
4.
Lipoprotein(a)—The Crossroads of Atherosclerosis, Atherothrombosis and Inflammation
Sabina Ugovšek, Miran Šebeštjen
Biomolecules. 2022 Jan; 12(1): 26. Published online 2021 Dec 24. doi: 10.3390/biom12010026
PMCID:
PMC8773759
AbstractArticlePDF–1.8M
5.
Q192R polymorphism in the PON1 gene and familial hypercholesterolemia in a Saudi population
Khalid Khalaf Alharbi, May Salem Alnbaheen, Fawiziah Khalaf Alharbi, Rana M. Hasanato, Imran Ali Khan
Ann Saudi Med. 2017 Nov-Dec; 37(6): 425–432. doi: 10.5144/0256-4947.2017.425
PMCID:
PMC6074118
AbstractArticlePDF–583K
6.
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody
Paul N. Hopkins, Joep Defesche, Sigrid W. Fouchier, Eric Bruckert, Gérald Luc, Bertrand Cariou, Barbara Sjouke, Trond P. Leren, Mariko Harada-Shiba, Hiroshi Mabuchi, Jean-Pierre Rabès, Alain Carrié, Charles van Heyningen, Valérie Carreau, Michel Farnier, Yee P. Teoh, Mafalda Bourbon, Masa-aki Kawashiri, Atsushi Nohara, Handrean Soran, A. David Marais, Hayato Tada, Marianne Abifadel, Catherine Boileau, Bernard Chanu, Shoji Katsuda, Ichiro Kishimoto, Gilles Lambert, Hisashi Makino, Yoshihiro Miyamoto, Matthieu Pichelin, Kunimasa Yagi, Masakazu Yamagishi, Yassine Zair, Scott Mellis, George D. Yancopoulos, Neil Stahl, Johanna Mendoza, Yunling Du, Sara Hamon, Michel Krempf, Gary D. Swergold
Circ Cardiovasc Genet. 2015 Dec; 8(6): 823–831. Published online 2015 Dec 15. doi: 10.1161/CIRCGENETICS.115.001129
PMCID:
PMC5098466
AbstractArticlePDF–1.1M
7.
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction
Ingrid Brænne, Mariana Kleinecke, Benedikt Reiz, Elisabeth Graf, Tim Strom, Thomas Wieland, Marcus Fischer, Thorsten Kessler, Christian Hengstenberg, Thomas Meitinger, Jeanette Erdmann, Heribert Schunkert
Eur J Hum Genet. 2016 Feb; 24(2): 191–197. Published online 2015 Jun 3. doi: 10.1038/ejhg.2015.100
PMCID:
PMC4717192
AbstractArticlePDF–706K
8.
Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL–C levels in a latvian population
Ilze Radovica-Spalvina, Gustavs Latkovskis, Ivars Silamikelis, Davids Fridmanis, Ilze Elbere, Karlis Ventins, Guna Ozola, Andrejs Erglis, Janis Klovins
BMC Med Genet. 2015; 16: 86. Published online 2015 Sep 28. doi: 10.1186/s12881-015-0230-x
PMCID:
PMC4587402
AbstractArticlePDF–453K
9.
Rare nonconservative LRP6 mutations are associated with metabolic syndrome
Rajvir Singh, Emily Smith, Mohsen Fathzadeh, Wenzhong Liu, Gwang-Woong Go, Lakshman Subrahmanyan, Saeed Faramarzi, William McKenna, Arya Mani
Hum Mutat. Author manuscript; available in PMC 2014 Sep 1.
Published in final edited form as: Hum Mutat. 2013 Sep; 34(9): 1221–1225. Published online 2013 Jun 18. doi: 10.1002/humu.22360
PMCID:
PMC3745535
AbstractArticlePDF–1.3M
10.
LRP6 Enhances Glucose Metabolism by Promoting TCF7L2-dependent Insulin Receptor Expression and IGF Receptor stabilization in Humans
Rajvir Singh, Renata Belfort De Aguiar, Sarita Naik, Sheida Mani, Kamal Ostadsharif, Detlef Wencker, Masoud Sotoudeh, Reza Malekzadeh, Robert S. Sherwin, Arya Mani
Cell Metab. Author manuscript; available in PMC 2014 Feb 5.
Published in final edited form as: Cell Metab. 2013 Feb 5; 17(2): 197–209. doi: 10.1016/j.cmet.2013.01.009
PMCID:
PMC3589523
AbstractArticlePDF–3.3M
11.
A Common PCSK9 Haplotype, Encompassing the E670G Coding Single Nucleotide Polymorphism, Is a Novel Genetic Marker for Plasma Low-Density Lipoprotein Cholesterol Levels and Severity of Coronary Atherosclerosis
Suet N. Chen, Christie M. Ballantyne, Antonio M. Gotto, Jr, Yanli Tan, James T. Willerson, Ali J. Marian
J Am Coll Cardiol. Author manuscript; available in PMC 2010 Jul 27.
Published in final edited form as: J Am Coll Cardiol. 2005 May 17; 45(10): 1611–1619. Published online 2005 Apr 21. doi: 10.1016/j.jacc.2005.01.051
PMCID:
PMC2910256
AbstractArticlePDF–885K
12.
Getting insurance after genetic screening on familial hypercholesterolaemia; the need to educate both insurers and the public to increase adherence to national guidelines in the Netherlands
d Marang-van, M C van Maarle, M Stouthard
J Epidemiol Community Health. 2002 Feb; 56(2): 145–147. doi: 10.1136/jech.56.2.145
PMCID:
PMC1732084
SummaryPDF–81K
13.
Lack of MEF2A mutations in coronary artery disease
Li Weng, Nihan Kavaslar, Anna Ustaszewska, Heather Doelle, Wendy Schackwitz, Sybil Hébert, Jonathan C. Cohen, Ruth McPherson, Len A. Pennacchio
J Clin Invest. 2005 Apr 1; 115(4): 1016–1020. doi: 10.1172/JCI24186
PMCID:
PMC1070426
AbstractArticlePDF–430K
14.
Overexpression of miR-126 Protects Hypoxic-Reoxygenation-Exposed HUVEC Cellular Injury through Regulating LRP6 Expression
Md Sayed Ali Sheikh, A. Almaeen, A. Alduraywish, Basil Mohammed Alomair, Umme Salma, Li Fei, T. L. Yang
Oxid Med Cell Longev. 2022; 2022: 3647744. Published online 2022 Jan 17. doi: 10.1155/2022/3647744
PMCID:
PMC8786472
AbstractArticlePDF–1.0M
15.
The interplay of Canonical and Non-canonical Wnt Signaling in Metabolic Syndrome
Maen D. Abou Ziki, Arya Mani
Nutr Res. Author manuscript; available in PMC 2020 Oct 1.
Published in final edited form as: Nutr Res. 2019 Oct; 70: 18–25. Published online 2018 Jul 4. doi: 10.1016/j.nutres.2018.06.009
PMCID:
PMC6320319
AbstractArticlePDF–458K
16.
Mutant LRP6 Impairs Endothelial Cell Functions Associated with Familial Normolipidemic Coronary Artery Disease
Jian Guo, Yang Li, Yi-Hong Ren, Zhijun Sun, Jie Dong, Han Yan, Yujun Xu, Dao Wen Wang, Gu-Yan Zheng, Jie Du, Xiao-Li Tian
Int J Mol Sci. 2016 Jul; 17(7): 1173. Published online 2016 Jul 22. doi: 10.3390/ijms17071173
PMCID:
PMC4964544
AbstractArticlePDF–1.7M
17.
Impaired LRP6-TCF7L2 activity enhances smooth muscle cell plasticity and causes coronary artery disease
Roshni Srivastava, Gwang-woong Go, Anand Narayanan, Jiasheng Zhang, Arya Mani
Cell Rep. Author manuscript; available in PMC 2015 Oct 30.
Published in final edited form as: Cell Rep. 2015 Oct 27; 13(4): 746–759. Published online 2015 Oct 17. doi: 10.1016/j.celrep.2015.09.028
PMCID:
PMC4626307
AbstractArticlePDF–3.1M
18.
Functional Analysis LRP6 Novel Mutations in Patients with Coronary Artery Disease
Yujun Xu, Wei Gong, Jia Peng, Haoran Wang, Jin Huang, Hu Ding, Dao Wen Wang
PLoS One. 2014; 9(1): e84345. Published online 2014 Jan 10. doi: 10.1371/journal.pone.0084345
PMCID:
PMC3888387
AbstractArticlePDF–1.5M
19.
LRP6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors
Arya Mani, Jayaram Radhakrishnan, He Wang, Alaleh Mani, Mohammad-Ali Mani, Carol Nelson-Williams, Khary S Carew, Shrikant Mane, Hossein Najmabadi, Dan Wu, Richard P. Lifton
Science. Author manuscript; available in PMC 2010 Sep 24.
Published in final edited form as: Science. 2007 Mar 2; 315(5816): 1278–1282. doi: 10.1126/science.1136370
Correction in:
volume 341 on page 959
PMCID:
PMC2945222
AbstractArticlePDF–1.7M
20.
A common variant in low density lipoprotein receptor-related protein 6 gene (LRP6) is associated with LDL-cholesterol: Tomaszewski LRP6 gene and LDL-C
Maciej Tomaszewski, Fadi J. Charchar, Timothy Barnes, Magdalena Gawron-Kiszka, Agnieszka Sedkowska, Ewa Podolecka, Jacek Kowalczyk, Wendy Rathbone, Zbigniew Kalarus, Wladyslaw Grzeszczak, Alison H. Goodall, Nilesh J. Samani, Ewa Zukowska-Szczechowska
Arterioscler Thromb Vasc Biol. Author manuscript; available in PMC 2010 Sep 1.
Published in final edited form as: Arterioscler Thromb Vasc Biol. 2009 Sep; 29(9): 1316. Published online 2009 Aug 10. doi: 10.1161/ATVBAHA.109.185355
PMCID:
PMC2814817
AbstractArticlePDF–260K

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