These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

151 related articles for article (PubMed ID: 31689621)

  • 1. Functional analysis of six uncharacterised mutations in LDLR gene.
    Gomez A; Colombo R; Pontoglio A; Helman L; Kaeser L; Giunta G; Parolin ML; Toscanini U; Cuniberti L
    Atherosclerosis; 2019 Dec; 291():44-51. PubMed ID: 31689621
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Systematic prediction of familial hypercholesterolemia caused by low-density lipoprotein receptor missense mutations.
    Guo J; Gao Y; Li X; He Y; Zheng X; Bi J; Hou L; Sa Y; Zhang M; Yin H; Jiang L
    Atherosclerosis; 2019 Feb; 281():1-8. PubMed ID: 30583242
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Functional analysis of new variants at the low-density lipoprotein receptor associated with familial hypercholesterolemia.
    Rodríguez-Jiménez C; Pernía O; Mostaza J; Rodríguez-Antolín C; de Dios García-Díaz J; Alonso-Cerezo C; García-Polo I; Blanco A; Lahoz C; Arrieta F; Beltrán L; Díaz de Bustamante A; Garzón-Lorenzo L; Álvarez-Sala LA; Asenjo Á; Ibáñez de Cáceres I; Rodríguez-Nóvoa S
    Hum Mutat; 2019 Aug; 40(8):1181-1190. PubMed ID: 31106925
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition.
    Benito-Vicente A; Uribe KB; Siddiqi H; Jebari S; Galicia-Garcia U; Larrea-Sebal A; Cenarro A; Stef M; Ostolaza H; Civeira F; Palacios L; Martin C
    PLoS One; 2018; 13(10):e0204771. PubMed ID: 30332439
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.
    Etxebarria A; Benito-Vicente A; Stef M; Ostolaza H; Palacios L; Martin C
    Atherosclerosis; 2015 Feb; 238(2):304-12. PubMed ID: 25545329
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene.
    Jiang L; Benito-Vicente A; Tang L; Etxebarria A; Cui W; Uribe KB; Pan XD; Ostolaza H; Yang SW; Zhou YJ; Martin C; Wang LY
    Atherosclerosis; 2017 Aug; 263():163-170. PubMed ID: 28645073
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia.
    Alnouri F; Athar M; Al-Allaf FA; Abduljaleel Z; Taher MM; Bouazzaoui A; Al Ammari D; Karrar H; Albabtain M
    Atherosclerosis; 2018 Oct; 277():425-433. PubMed ID: 30270081
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel LDLR variants affecting low density lipoprotein metabolism identified in familial hypercholesterolemia.
    Wang M; Hong L; Cai L; Zhang Z; Jiang N; Chen Y; Ying Q; Kong L; Wei Z; Xu Y; Jin L
    Mol Biol Rep; 2024 Jan; 51(1):153. PubMed ID: 38236436
    [TBL] [Abstract][Full Text] [Related]  

  • 9. p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro.
    Benito-Vicente A; Siddiqi H; Uribe KB; Jebari S; Galicia-Garcia U; Larrea-Sebal A; Stef M; Ostolaza H; Palacios L; Martin C
    Sci Rep; 2018 Nov; 8(1):16614. PubMed ID: 30413722
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Functional characterization and classification of frequent low-density lipoprotein receptor variants.
    Etxebarria A; Benito-Vicente A; Palacios L; Stef M; Cenarro A; Civeira F; Ostolaza H; Martin C
    Hum Mutat; 2015 Jan; 36(1):129-41. PubMed ID: 25378237
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.
    Etxebarria A; Palacios L; Stef M; Tejedor D; Uribe KB; Oleaga A; Irigoyen L; Torres B; Ostolaza H; Martin C
    Hum Mutat; 2012 Jan; 33(1):232-43. PubMed ID: 21990180
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity.
    Banerjee P; Chan KC; Tarabocchia M; Benito-Vicente A; Alves AC; Uribe KB; Bourbon M; Skiba PJ; Pordy R; Gipe DA; Gaudet D; Martin C
    Arterioscler Thromb Vasc Biol; 2019 Nov; 39(11):2248-2260. PubMed ID: 31578082
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
    Galicia-Garcia U; Benito-Vicente A; Uribe KB; Jebari S; Larrea-Sebal A; Alonso-Estrada R; Aguilo-Arce J; Ostolaza H; Palacios L; Martin C
    Sci Rep; 2020 Feb; 10(1):1727. PubMed ID: 32015373
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.
    Grenkowitz T; Kassner U; Wühle-Demuth M; Salewsky B; Rosada A; Zemojtel T; Hopfenmüller W; Isermann B; Borucki K; Heigl F; Laufs U; Wagner S; Kleber ME; Binner P; März W; Steinhagen-Thiessen E; Demuth I
    Atherosclerosis; 2016 Oct; 253():88-93. PubMed ID: 27596133
    [TBL] [Abstract][Full Text] [Related]  

  • 15. LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL.
    Wang K; Hu T; Tai M; Shen Y; Chai H; Lin S; Chen X
    Lipids Health Dis; 2024 Mar; 23(1):85. PubMed ID: 38515137
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
    Pek SLT; Dissanayake S; Fong JCW; Lin MX; Chan EZL; Tang JI; Lee CW; Ong HY; Sum CF; Lim SC; Tavintharan S
    Atherosclerosis; 2018 Feb; 269():106-116. PubMed ID: 29353225
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel LDLR variants in patients with familial hypercholesterolemia: in silico analysis as a tool to predict pathogenic variants in children and their families.
    Mollaki V; Progias P; Drogari E
    Ann Hum Genet; 2013 Sep; 77(5):426-34. PubMed ID: 23815734
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis.
    Chora JR; Medeiros AM; Alves AC; Bourbon M
    Genet Med; 2018 Jun; 20(6):591-598. PubMed ID: 29261184
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Functional profiling of LDLR variants: Important evidence for variant classification: Functional profiling of LDLR variants.
    Graça R; Alves AC; Zimon M; Pepperkok R; Bourbon M
    J Clin Lipidol; 2022; 16(4):516-524. PubMed ID: 35568682
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutational analysis of the LDLR gene in a cohort of Colombian families with familial hypercholesterolemia.
    López G; Bernal LM; Gelvez N; Gómez LF; Nova A; Sánchez AI; Tamayo ML
    Atherosclerosis; 2018 Oct; 277():434-439. PubMed ID: 30270082
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.