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There are 6850 results for: content related to: Novel LDLR Variants in Patients with Familial Hypercholesterolemia: In Silico Analysis as a Tool to Predict Pathogenic Variants in Children and Their Families

  1. Delivery and long-term expression of a 135 kb LDLR genomic DNA locus in vivo by hydrodynamic tail vein injection

    The Journal of Gene Medicine

    Volume 9, Issue 6, June 2007, Pages: 488–497, Olivia C. Hibbitt, Richard P. Harbottle, Simon N. Waddington, Christine A. Bursill, Charles Coutelle, Keith M. Channon and Richard Wade-Martins

    Article first published online : 1 MAY 2007, DOI: 10.1002/jgm.1041

  2. You have full text access to this OnlineOpen article
    Distinct roles for complement in glomerulonephritis and atherosclerosis revealed in mice with a combination of lupus and hyperlipidemia

    Arthritis & Rheumatism

    Volume 64, Issue 8, August 2012, Pages: 2707–2718, Myles J. Lewis, Talat H. Malik, Liliane Fossati-Jimack, Daniele Carassiti, H. Terence Cook, Dorian O. Haskard and Marina Botto

    Article first published online : 27 JUL 2012, DOI: 10.1002/art.34451

  3. You have free access to this content
    Update and Analysis of the University College London Low Density Lipoprotein Receptor Familial Hypercholesterolemia Database

    Annals of Human Genetics

    Volume 72, Issue 4, July 2008, Pages: 485–498, S. E. A. Leigh, A. H. Foster, R. A. Whittall, C. S. Hubbart and S. E. Humphries

    Article first published online : 5 MAR 2008, DOI: 10.1111/j.1469-1809.2008.00436.x

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    Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment

    Annals of Human Genetics

    Volume 76, Issue 5, September 2012, Pages: 387–401, Ebele Usifo, Sarah E. A. Leigh, Ros A. Whittall, Nicholas Lench, Alison Taylor, Corin Yeats, Christine A. Orengo, Andrew C. R. Martin, Jacopo Celli and Steve E. Humphries

    Article first published online : 10 AUG 2012, DOI: 10.1111/j.1469-1809.2012.00724.x

  5. You have full text access to this OnlineOpen article
    Interleukin-13 protects from atherosclerosis and modulates plaque composition by skewing the macrophage phenotype

    EMBO Molecular Medicine

    Volume 4, Issue 10, October 2012, Pages: 1072–1086, Larissa Cardilo-Reis, Sabrina Gruber, Sabine M. Schreier, Maik Drechsler, Nikolina Papac-Milicevic, Christian Weber, Oswald Wagner, Herbert Stangl, Oliver Soehnlein and Christoph J. Binder

    Article first published online : 2 OCT 2012, DOI: 10.1002/emmm.201201374

  6. Evaluation of the causality of the low-density lipoprotein receptor gene (LDLR) for serum lipids in pigs

    Animal Genetics

    Volume 45, Issue 5, October 2014, Pages: 665–673, Z. Zeng, R. Chen, C. Liu, H. Yang, C. Chen and L. Huang

    Article first published online : 21 JUN 2014, DOI: 10.1111/age.12183

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    Coordinate up-regulation of low-density lipoprotein receptor and cyclo-oxygenase-2 gene expression in human colorectal cells and in colorectal adenocarcinoma biopsies

    International Journal of Cancer

    Volume 83, Issue 2, 8 October 1999, Pages: 162–166, Donald F. Lum, Kenneth R. McQuaid, Vicki L. Gilbertson and Millie Hughes-Fulford

    Article first published online : 10 NOV 1999, DOI: 10.1002/(SICI)1097-0215(19991008)83:2<162::AID-IJC3>3.0.CO;2-W

  8. You have full text access to this OnlineOpen article
    Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing

    Journal of Internal Medicine

    Volume 276, Issue 4, October 2014, Pages: 396–403, C. Maglio, R. M. Mancina, B. M. Motta, M. Stef, C. Pirazzi, L. Palacios, N. Askaryar, J. Borén, O. Wiklund and S. Romeo

    Article first published online : 20 MAY 2014, DOI: 10.1111/joim.12263

  9. Functional characterization of splicing and ligand-binding domain variants in the LDL receptor

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 232–243, Aitor Etxebarria, Lourdes Palacios, Marianne Stef, Diego Tejedor, Kepa B. Uribe, Amalia Oleaga, Luis Irigoyen, Beatriz Torres, Helena Ostolaza and Cesar Martin

    Article first published online : 3 NOV 2011, DOI: 10.1002/humu.21630

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    Functional Characterization and Classification of Frequent Low-Density Lipoprotein Receptor Variants

    Human Mutation

    Volume 36, Issue 1, January 2015, Pages: 129–141, Aitor Etxebarria, Asier Benito-Vicente, Lourdes Palacios, Marianne Stef, Ana Cenarro, Fernando Civeira, Helena Ostolaza and Cesar Martin

    Article first published online : 27 NOV 2014, DOI: 10.1002/humu.22721

  11. Functional analysis of LDLR promoter and 5′ UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia

    Human Mutation

    Volume 32, Issue 8, August 2011, Pages: 868–872, Isabel De Castro-Orós, Sandra Pampín, Alfonso Bolado-Carrancio, Aguirre De Cubas, Lourdes Palacios, Nuria Plana, Jose Puzo, Esperanza Martorell, Marianne Stef, Luis Masana, Fernando Civeira, Jose Carlos Rodríguez-Rey and Miguel Pocoví

    Article first published online : 12 JUL 2011, DOI: 10.1002/humu.21520

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    Selective expression of LDLR and VLDLR in myelinating oligodendrocytes

    Developmental Dynamics

    Volume 236, Issue 9, September 2007, Pages: 2708–2712, Shufang Zhao, Xuemei Hu, Jinsil Park, Ying Zhu, Qiang Zhu, Hong Li, Chen Luo, Ruifa Han, Nigel Cooper and Mengsheng Qiu

    Article first published online : 8 AUG 2007, DOI: 10.1002/dvdy.21283

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    Adverse effects of hyperlipidemia on bone regeneration and strength

    Journal of Bone and Mineral Research

    Volume 27, Issue 2, February 2012, Pages: 309–318, Flavia Pirih, Jinxiu Lu, Fei Ye, Olga Bezouglaia, Elisa Atti, Maria-Grazia Ascenzi, Sotirios Tetradis, Linda Demer, Tara Aghaloo and Yin Tintut

    Article first published online : 23 JAN 2012, DOI: 10.1002/jbmr.541

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    Activation of liver X receptor sensitizes mice to gallbladder cholesterol crystallization

    Hepatology

    Volume 47, Issue 4, April 2008, Pages: 1331–1342, Hirdesh Uppal, Yonggong Zhai, Archana Gangopadhyay, Shaheen Khadem, Songrong Ren, James A. Moser and Wen Xie

    Article first published online : 19 DEC 2007, DOI: 10.1002/hep.22175

  15. Transmission of LDLR Mutation From Donor Through Liver Transplantation Resulting in Hypercholesterolemia in the Recipient

    American Journal of Transplantation

    Volume 14, Issue 12, December 2014, Pages: 2898–2902, K. Nikkilä, F. Åberg and H. Isoniemi

    Article first published online : 17 SEP 2014, DOI: 10.1111/ajt.12961

  16. LDL Receptor and Its Role in Inherited Disease

    Standard Article

    eLS

    Anne K Soutar

    Published Online : 15 SEP 2010, DOI: 10.1002/9780470015902.a0022404

  17. You have full text access to this OnlineOpen article
    β-Estradiol results in a proprotein convertase subtilisin/kexin type 9-dependent increase in low-density lipoprotein receptor levels in human hepatic HuH7 cells

    FEBS Journal

    Volume 282, Issue 14, July 2015, Pages: 2682–2696, Amanda E. Starr, Valérie Lemieux, Jenny Noad, Jasmine I. Moore, Thilina Dewpura, Angela Raymond, Michel Chrétien, Daniel Figeys and Janice Mayne

    Article first published online : 18 MAY 2015, DOI: 10.1111/febs.13309

  18. No association between low density lipoprotein receptor genetic variants and Alzheimer's disease risk

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 141B, Issue 5, 5 July 2006, Pages: 541–543, Eloy Rodríguez, Ignacio Mateo, Javier Llorca, Coro Sánchez-Quintana, Jon Infante, José Berciano and Onofre Combarros

    Article first published online : 1 JUN 2006, DOI: 10.1002/ajmg.b.30341

  19. The Oxysterol 24(S),25-Epoxycholesterol Attenuates Human Smooth Muscle–Derived Foam Cell Formation Via Reduced Low-Density Lipoprotein Uptake and Enhanced Cholesterol Efflux

    Michael M. Beyea, Samantha Reaume, Cynthia G. Sawyez, Jane Y. Edwards, Caroline O'Neil, Robert A. Hegele, J. Geoffrey Pickering and Murray W. Huff

    Article first published online : 12 JUN 2012, DOI: 10.1161/JAHA.112.000810

  20. The Δ>15 Kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid polymerase chain reaction-based diagnostic assay and prevalence in Quebec

    Clinical Genetics

    Volume 65, Issue 3, March 2004, Pages: 202–208, LR Simard, J Viel, M Lambert, G Paradis, E Levy, EE Delvin and GA Mitchell

    Article first published online : 30 JAN 2004, DOI: 10.1111/j.0009-9163.2004.00223.x