Similar articles for PMID: 12522687

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1

Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.

Takada D, Emi M, Ezura Y, Nobe Y, Kawamura K, Iino Y, Katayama Y, Xin Y, Wu LL, Larringa-Shum S, Stephenson SH, Hunt SC, Hopkins PN. Takada D, et al. J Hum Genet. 2002;47(12):656-64. doi: 10.1007/s100380200101. J Hum Genet. 2002. PMID: 12522687

2

[Genetic analysis of a patient with familial hypercholesterolemia due to variant of LDLR gene].

Wang G, Liu L, Gao Y, Lyu M, Wu H, He X. Wang G, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Apr 10;40(4):458-461. doi: 10.3760/cma.j.cn511374-20210109-00022. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 36972942 Chinese.

3

An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease intervention.

Jørsboe E, Andersen MK, Skotte L, Stæger FF, Færgeman NJ, Hanghøj K, Santander CG, Senftleber NK, Diaz LJ, Overvad M, Waples RK, Geller F, Bjerregaard P, Melbye M, Larsen CVL, Feenstra B, Anders Koch, Jørgensen ME, Grarup N, Moltke I, Albrechtsen A, Hansen T. Jørsboe E, et al. HGG Adv. 2022 Jun 9;3(4):100118. doi: 10.1016/j.xhgg.2022.100118. eCollection 2022 Oct 13. HGG Adv. 2022. PMID: 36267056 Free PMC article.

4

Effect of the LDL receptor mutation type on incident major adverse cardiovascular events in familial hypercholesterolaemia.

Paquette M, Carrié A, Bernard S, Cariou B, Hegele RA, Genest J, Trinder M, Brunham LR, Béliard S, Baass A. Paquette M, et al. Eur J Prev Cardiol. 2022 Nov 15;29(16):2125-2131. doi: 10.1093/eurjpc/zwac188. Eur J Prev Cardiol. 2022. PMID: 36047048

5

[Genetic screening for a pedigree of familial hypercholesterolemia].

Zhu F, Zhong YC, Wang C, Zhang FX, Wang M, Dong SL, Wang X, Cheng X. Zhu F, et al. Zhonghua Xin Xue Guan Bing Za Zhi. 2022 Feb 24;50(2):185-188. doi: 10.3760/cma.j.cn112148-20210315-00225. Zhonghua Xin Xue Guan Bing Za Zhi. 2022. PMID: 35172466 Chinese.

6

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. Zakharova IS, et al. Stem Cell Res. 2022 Apr;60:102703. doi: 10.1016/j.scr.2022.102703. Epub 2022 Feb 6. Stem Cell Res. 2022. PMID: 35152179 Free article.

7

Identification of a novel large duplication (exon2_6dup): copy number variation in the LDLR gene in a large family with familial hypercholesterolemia by whole-genome sequencing.

Hori M, Takahashi A, Hosoda K, Harada-Shiba M. Hori M, et al. J Clin Lipidol. 2022 Mar-Apr;16(2):167-172. doi: 10.1016/j.jacl.2022.01.007. Epub 2022 Jan 21. J Clin Lipidol. 2022. PMID: 35131226

8

The Power to Predict: Does LDLR Mutation Status Determine Statin Responsiveness?

Berberich AJ. Berberich AJ. Can J Cardiol. 2022 Mar;38(3):293-296. doi: 10.1016/j.cjca.2022.01.006. Epub 2022 Jan 12. Can J Cardiol. 2022. PMID: 35032620 No abstract available.

9

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. Moffa S, et al. Mol Biol Rep. 2022 Feb;49(2):1623-1630. doi: 10.1007/s11033-021-07015-3. Epub 2021 Nov 30. Mol Biol Rep. 2022. PMID: 34846648

10

Splice correction therapies for familial hypercholesterolemic patients with low-density lipoprotein receptor mutations.

McIntosh CS, Watts GF, Wilton SD, Aung-Htut MT. McIntosh CS, et al. Curr Opin Lipidol. 2021 Dec 1;32(6):355-362. doi: 10.1097/MOL.0000000000000793. Curr Opin Lipidol. 2021. PMID: 34653074 Free PMC article. Review.

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