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Items: 1 to 20 of 500

1.
Decreased Bone Mineral Density in Subjects Carrying Familial Defective Apolipoprotein B-100
Laura M. Yerges-Armstrong, Haiqing Shen, Kathleen A. Ryan, Elizabeth A. Streeten, Alan R. Shuldiner, Braxton D. Mitchell
J Clin Endocrinol Metab. 2013 Dec; 98(12): E1999–E2005. Published online 2013 Oct 8. doi: 10.1210/jc.2013-2471
PMCID:
PMC3849668
Article
2.
Familial Defective Apolipoprotein B-100 and Increased Low-Density Lipoprotein Cholesterol and Coronary Artery Calcification in the Old Order Amish
Haiqing Shen, Coleen M. Damcott, Evadnie Rampersaud, Toni I. Pollin, Richard B. Horenstein, Patrick F. McArdle, Patricia A. Peyser, Lawrence F. Bielak, Wendy S. Post, Yen-Pei C. Chang, Kathleen A. Ryan, Michael Miller, John A. Rumberger, Patrick F. Sheedy, II, John Shelton, Jeffrey R. O’Connell, Alan R. Shuldiner, Braxton D. Mitchell
Arch Intern Med. Author manuscript; available in PMC 2013 Mar 4.
Published in final edited form as: Arch Intern Med. 2010 Nov 8; 170(20): 1850–1855. doi: 10.1001/archinternmed.2010.384
PMCID:
PMC3587042
ArticlePDF–913K
3.
Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding.
T L Innerarity, K H Weisgraber, K S Arnold, R W Mahley, R M Krauss, G L Vega, S M Grundy
Proc Natl Acad Sci U S A. 1987 Oct; 84(19): 6919–6923. doi: 10.1073/pnas.84.19.6919
PMCID:
PMC299196
SummaryPage BrowsePDF–1.0M
4.
Accumulation of "small dense" low density lipoproteins (LDL) in a homozygous patients with familial defective apolipoprotein B-100 results from heterogenous interaction of LDL subfractions with the LDL receptor.
W März, M W Baumstark, H Scharnagl, V Ruzicka, S Buxbaum, J Herwig, T Pohl, A Russ, L Schaaf, A Berg, et al.
J Clin Invest. 1993 Dec; 92(6): 2922–2933. doi: 10.1172/JCI116915
PMCID:
PMC288496
SummaryPage BrowsePDF–2.5M
5.
Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.
L F Soria, E H Ludwig, H R Clarke, G L Vega, S M Grundy, B J McCarthy
Proc Natl Acad Sci U S A. 1989 Jan; 86(2): 587–591. doi: 10.1073/pnas.86.2.587
PMCID:
PMC286517
SummaryPage BrowsePDF–1.1M
6.
Familial defective apolipoprotein B-100: enhanced binding of monoclonal antibody MB47 to abnormal low density lipoproteins.
K H Weisgraber, T L Innerarity, Y M Newhouse, S G Young, K S Arnold, R M Krauss, G L Vega, S M Grundy, R W Mahley
Proc Natl Acad Sci U S A. 1988 Dec; 85(24): 9758–9762. doi: 10.1073/pnas.85.24.9758
PMCID:
PMC282860
SummaryPage BrowsePDF–1.0M
7.
An Integrated Transcriptomics and Proteomics Analysis of the Secretome of the Helminth Pathogen Fasciola hepatica: PROTEINS ASSOCIATED WITH INVASION AND INFECTION OF THE MAMMALIAN HOST
Mark W. Robinson, Ranjeeta Menon, Sheila M. Donnelly, John P. Dalton, Shoba Ranganathan
Mol Cell Proteomics. 2009 Aug; 8(8): 1891–1907. Published online 2009 May 14. doi: 10.1074/mcp.M900045-MCP200
PMCID:
PMC2722771
ArticlePDF–450K
8.
Use of DNA haplotype analysis in diagnosis of familial hypercholesterolaemia in 31 German families.
H Schuster, G Rauh, C Gerl, C Keller, G Wolfram, N Zöllner
J Med Genet. 1991 Dec; 28(12): 865–870. doi: 10.1136/jmg.28.12.865
PMCID:
PMC1017165
SummaryPage BrowsePDF–811K
9.
Family cascade screening for equitable identification of familial hypercholesterolemia: study protocol for a hybrid effectiveness-implementation type III randomized controlled trial
Christina Johnson, Jinbo Chen, Mary P. McGowan, Eric Tricou, Mary Card, Amy R. Pettit, Tamar Klaiman, Daniel J. Rader, Kevin G. Volpp, Rinad S. Beidas
Implement Sci. 2024; 19: 30. Published online 2024 Apr 9. doi: 10.1186/s13012-024-01355-x
PMCID:
PMC11003060
ArticlePDF–1.1M
10.
OptiMo‐LDLr: An Integrated In Silico Model with Enhanced Predictive Power for LDL Receptor Variants, Unraveling Hot Spot Pathogenic Residues
Asier Larrea‐Sebal, Iñaki Sasiain, Shifa Jebari‐Benslaiman, Unai Galicia‐Garcia, Kepa B. Uribe, Asier Benito‐Vicente, Irene Gracia‐Rubio, Harbil Bediaga‐Bañeres, Sonia Arrasate, Ana Cenarro, Fernando Civeira, Humberto González‐Díaz, Cesar Martín
Adv Sci (Weinh) 2024 Apr; 11(13): 2305177. Published online 2024 Jan 23. doi: 10.1002/advs.202305177
PMCID:
PMC10987110
ArticlePDF–7.8M
11.
The Health History of First-Degree Relatives’ Dyslipidemia Can Affect Preferences and Intentions following the Return of Genomic Results for Monogenic Familial Hypercholesterolemia
Tomoharu Tokutomi, Akiko Yoshida, Akimune Fukushima, Kayono Yamamoto, Yasushi Ishigaki, Hiroshi Kawame, Nobuo Fuse, Fuji Nagami, Yoichi Suzuki, Mika Sakurai-Yageta, Akira Uruno, Kichiya Suzuki, Kozo Tanno, Hideki Ohmomo, Atsushi Shimizu, Masayuki Yamamoto, Makoto Sasaki
Genes (Basel) 2024 Mar; 15(3): 384. Published online 2024 Mar 21. doi: 10.3390/genes15030384
PMCID:
PMC10970353
ArticlePDF–515K
12.
Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia
Hayato Tada, Masa-aki Kawashiri, Atsushi Nohara, Tomoko Sekiya, Atsushi Watanabe, Masayuki Takamura
Genes (Basel) 2024 Mar; 15(3): 297. Published online 2024 Feb 26. doi: 10.3390/genes15030297
PMCID:
PMC10970256
ArticlePDF–1.8M
13.
Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor
Burabha Pussadhamma, Chaiyasith Wongvipaporn, Atthakorn Wutthimanop, Manit Nuinoon, Sureerut Porntadavity, Nutjaree Jeenduang
Sci Rep. 2024; 14: 6785. Published online 2024 Mar 21. doi: 10.1038/s41598-024-57069-z
PMCID:
PMC10957951
ArticlePDF–2.3M
14.
LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL
Kaihan Wang, Tingting Hu, Mengmeng Tai, Yan Shen, Haocheng Chai, Shaoyi Lin, Xiaomin Chen
Lipids Health Dis. 2024; 23: 85. Published online 2024 Mar 21. doi: 10.1186/s12944-024-02068-2
PMCID:
PMC10956282
ArticlePDF–1.8M
15.
CRISPR-Cas9-guided amplification-free genomic diagnosis for familial hypercholesterolemia using nanopore sequencing
Sijia Xu, Hiroki Shiomi, Yugo Yamashita, Satoshi Koyama, Takahiro Horie, Osamu Baba, Masahiro Kimura, Yasuhiro Nakashima, Naoya Sowa, Koji Hasegawa, Ayako Suzuki, Yutaka Suzuki, Takeshi Kimura, Koh Ono
PLoS One. 2024; 19(3): e0297231. Published online 2024 Mar 20. doi: 10.1371/journal.pone.0297231
PMCID:
PMC10954175
ArticlePDF–2.1M
16.
A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR
Yongjun Song, Reham Abdel Haleem Abo Elwafa, Omneya Magdy Omar, Go Hun Seo, Hane Lee
Mol Genet Genomic Med. 2024 Mar; 12(3): e2410. Published online 2024 Mar 4. doi: 10.1002/mgg3.2410
PMCID:
PMC10910215
ArticlePDF–1.2M
17.
Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases
Daniel Moynihan, Sean Monaco, Teck Wah Ting, Kaavya Narasimhalu, Jenny Hsieh, Sylvia Kam, Jiin Ying Lim, Weng Khong Lim, Sonia Davila, Yasmin Bylstra, Iswaree Devi Balakrishnan, Mark Heng, Elian Chia, Khung Keong Yeo, Bee Keow Goh, Ritu Gupta, Tele Tan, Gareth Baynam, Saumya Shekhar Jamuar
Sci Rep. 2024; 14: 5056. Published online 2024 Mar 1. doi: 10.1038/s41598-024-55424-8
PMCID:
PMC10904843
ArticlePDF–1.2M
18.
The impact of SLCO1B1 rs4149056 on LDL-C target achievement after lipid lowering therapy optimization in men and women with familial hypercholesterolemia
Giosiana Bosco, Francesco Di Giacomo Barbagallo, Maurizio Di Marco, Nicoletta Miano, Sabrina Scilletta, Salvatore Spampinato, Alessio Vitale, Federica Di Bella, Maria Montalbano, Stefania Di Mauro, Agnese Filippello, Alessandra Scamporrino, Agostino Milluzzo, Antonino Di Pino, Lucia Frittitta, Francesco Purrello, Salvatore Piro, Roberto Scicali
Front Endocrinol (Lausanne) 2024; 15: 1346152. Published online 2024 Feb 8. doi: 10.3389/fendo.2024.1346152
PMCID:
PMC10885347
ArticlePDF–640K
19.
Establishing non-fasting reference values for plasma lipids levels based on age, sex, and puberty stage in a French-Canadian pediatric population
Sophie Bouhour, Rosalie Plantefève, Virginie Gillet, Armita Abolghasemi, Fatima Zahra Bouchouirab, Andrea A. Baccarelli, Larissa Takser, Artuela Çaku
Lipids Health Dis. 2024; 23: 54. Published online 2024 Feb 22. doi: 10.1186/s12944-024-02040-0
PMCID:
PMC10882849
ArticlePDF–1.1M
20.
A Clinical Case of Probable Sitosterolemia
Michishige Terasaki, Mikiko Izumi, Sho-ichi Yamagishi
Int J Mol Sci. 2024 Feb; 25(3): 1535. Published online 2024 Jan 26. doi: 10.3390/ijms25031535
PMCID:
PMC10855567
ArticlePDF–1.4M

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