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 *

131 related articles for article (PubMed ID: 38852422)

  • 1. Generation of two familial hypercholesterolemia patient-specific induced pluripotent stem cell lines harboring heterozygous mutations in the LDLR gene.
    Gao J; Li J; Xu L; Yan CD; Knowles JW; Wu JC
    Stem Cell Res; 2024 Aug; 78():103463. PubMed ID: 38852422
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Induced pluripotent stem cell line ICGi037-A, obtained by reprogramming peripheral blood mononuclear cells from a patient with familial hypercholesterolemia due to heterozygous p.Trp443Arg mutations in LDLR.
    Zakharova IS; Shevchenko AI; Tmoyan NA; Elisaphenko EA; Kalinin AP; Sleptcov AA; Nazarenko MS; Ezhov MV; Kukharchuk VV; Parfyonova YV; Zakian SM
    Stem Cell Res; 2022 Apr; 60():102703. PubMed ID: 35152179
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Induced pluripotent stem cell line ICGi038-A, obtained by reprogramming peripheral blood mononuclear cells from a patient with familial hypercholesterolemia due to compound heterozygous c.1246C > T/c.940 + 3_940 + 6del mutations in LDLR.
    Zakharova IS; Shevchenko AI; Tmoyan NA; Elisaphenko EA; Zubkova ES; Sleptcov AA; Nazarenko MS; Ezhov MV; Kukharchuk VV; Parfyonova YV; Zakian SM
    Stem Cell Res; 2022 Apr; 60():102702. PubMed ID: 35152178
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Low-density lipoprotein receptor-deficient hepatocytes differentiated from induced pluripotent stem cells allow familial hypercholesterolemia modeling, CRISPR/Cas-mediated genetic correction, and productive hepatitis C virus infection.
    Caron J; Pène V; Tolosa L; Villaret M; Luce E; Fourrier A; Heslan JM; Saheb S; Bruckert E; Gómez-Lechón MJ; Nguyen TH; Rosenberg AR; Weber A; Dubart-Kupperschmitt A
    Stem Cell Res Ther; 2019 Jul; 10(1):221. PubMed ID: 31358055
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Cohort Generation and Characterization of Patient-Specific Familial Hypercholesterolemia Induced Pluripotent Stem Cells.
    Omer L; Hudson EA; Hudgins LC; Boyd NL
    Stem Cells Dev; 2021 Jun; 30(12):632-640. PubMed ID: 34029164
    [TBL] [Abstract][Full Text] [Related]  

  • 6. An integration-free iPSC line ZZUNEUi029-A derived from peripheral blood mononuclear cells of a patient with familial hypercholesterolemia carrying a mutation in LDLR gene.
    Zhu K; Zhao J; Qin F; Chen X; Xu H; Li X; Tao H
    Stem Cell Res; 2023 Sep; 71():103182. PubMed ID: 37586167
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Heterozygous familial hypercholesterolemia in children: low-density lipoprotein receptor mutational analysis and variation in the expression of plasma lipoprotein-lipid concentrations.
    Torres AL; Moorjani S; Vohl MC; Gagné C; Lamarche B; Brun LD; Lupien PJ; Després JP
    Atherosclerosis; 1996 Sep; 126(1):163-71. PubMed ID: 8879444
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Generation of Human Liver Chimeric Mice with Hepatocytes from Familial Hypercholesterolemia Induced Pluripotent Stem Cells.
    Yang J; Wang Y; Zhou T; Wong LY; Tian XY; Hong X; Lai WH; Au KW; Wei R; Liu Y; Cheng LH; Liang G; Huang Z; Fan W; Zhao P; Wang X; Ibañez DP; Luo Z; Li Y; Zhong X; Chen S; Wang D; Li L; Lai L; Qin B; Bao X; Hutchins AP; Siu CW; Huang Y; Esteban MA; Tse HF
    Stem Cell Reports; 2017 Mar; 8(3):605-618. PubMed ID: 28262545
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Restoration of Physiologically Responsive Low-Density Lipoprotein Receptor-Mediated Endocytosis in Genetically Deficient Induced Pluripotent Stem Cells.
    Ramakrishnan VM; Yang JY; Tien KT; McKinley TR; Bocard BR; Maijub JG; Burchell PO; Williams SK; Morris ME; Hoying JB; Wade-Martins R; West FD; Boyd NL
    Sci Rep; 2015 Aug; 5():13231. PubMed ID: 26307169
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FHMarburg (FH p.W556R).
    Schaefer JR; Kurt B; Sattler A; Klaus G; Soufi M
    Clin Res Cardiol Suppl; 2012 Jun; 7(Suppl 1):2-6. PubMed ID: 22528129
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK
    Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
    Wang J; Huff E; Janecka L; Hegele RA
    Hum Mutat; 2001 Oct; 18(4):359. PubMed ID: 11668627
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene.
    Wang D; Wu B; Li Y; Heng W; Zhong H; Mu Y; Wang J
    J Hum Genet; 2001; 46(3):152-4. PubMed ID: 11310584
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population.
    Ejarque I; Real JT; Martinez-Hervas S; Chaves FJ; Blesa S; Garcia-Garcia AB; Millan E; Ascaso JF; Carmena R
    Transl Res; 2008 Mar; 151(3):162-7. PubMed ID: 18279815
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia].
    Liu YR; Tao QM; Chen JZ; Tao M; Guo XG; Shang YP; Zhu JH; Zhang FR; Zheng LR; Wang XX
    Sheng Li Xue Bao; 2004 Oct; 56(5):566-72. PubMed ID: 15497035
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Elevated plasma PCSK9 level is equally detrimental for patients with nonfamilial hypercholesterolemia and heterozygous familial hypercholesterolemia, irrespective of low-density lipoprotein receptor defects.
    Lambert G; Petrides F; Chatelais M; Blom DJ; Choque B; Tabet F; Wong G; Rye KA; Hooper AJ; Burnett JR; Barter PJ; Marais AD
    J Am Coll Cardiol; 2014 Jun; 63(22):2365-73. PubMed ID: 24632287
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations.
    Rabacchi C; Bigazzi F; Puntoni M; Sbrana F; Sampietro T; Tarugi P; Bertolini S; Calandra S
    J Clin Lipidol; 2016; 10(4):944-952.e1. PubMed ID: 27578127
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Independent Severe Cases of Heterozygous Familial Hypercholesterolemia Caused by the W483X and Novel W483G Mutations in the Low-Density Lipoprotein Receptor Gene That Were Clinically Diagnosed as Homozygous Cases.
    Cheng S; Wu Y; Wen W; An M; Gao Y; Wang L; Han X; Shang H
    Genet Test Mol Biomarkers; 2019 Jun; 23(6):401-408. PubMed ID: 31161821
    [No Abstract]   [Full Text] [Related]  

  • 19. Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia.
    Santos PC; Morgan AC; Jannes CE; Turolla L; Krieger JE; Santos RD; Pereira AC
    Atherosclerosis; 2014 Mar; 233(1):206-10. PubMed ID: 24529145
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel low-density lipoprotein receptor variant in a Ukrainian patient: a case report and overview of the disease-causing low-density lipoprotein receptor variants associated to familial hypercholesterolemia.
    Moffa S; Onori ME; De Paolis E; Ricciardi Tenore C; Perrucci A; Pontecorvi A; Giaccari A; Urbani A; Minucci A
    Mol Biol Rep; 2022 Feb; 49(2):1623-1630. PubMed ID: 34846648
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.