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.
377 related articles for article (PubMed ID: 34511120)
1. The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia. Hu H; Chen R; Hu Y; Wang J; Lin S; Chen X Lipids Health Dis; 2021 Sep; 20(1):101. PubMed ID: 34511120 [TBL] [Abstract][Full Text] [Related]
2. LDL-cholesterol and PCSK9 in patients with familial hypercholesterolemia: influence of PCSK9 variants under lipid-lowering therapy. Hamasaki M; Sakane N; Hara K; Kotani K J Clin Lab Anal; 2021 Nov; 35(11):e24056. PubMed ID: 34652028 [TBL] [Abstract][Full Text] [Related]
3. Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor. Pussadhamma B; Wongvipaporn C; Wutthimanop A; Nuinoon M; Porntadavity S; Jeenduang N Sci Rep; 2024 Mar; 14(1):6785. PubMed ID: 38514665 [TBL] [Abstract][Full Text] [Related]
5. Screening of PCSK9 and LDLR genetic variants in Familial Hypercholesterolemia (FH) patients in India. Reddy LL; Shah SAV; Ponde CK; Dalal JJ; Jatale RG; Dalal RJ; Rajani RM; Pillai SK; Vanjani CV; Ashavaid TF J Hum Genet; 2021 Oct; 66(10):983-993. PubMed ID: 33864011 [TBL] [Abstract][Full Text] [Related]
6. Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia. Ohta N; Hori M; Takahashi A; Ogura M; Makino H; Tamanaha T; Fujiyama H; Miyamoto Y; Harada-Shiba M J Clin Lipidol; 2016; 10(3):547-555.e5. PubMed ID: 27206942 [TBL] [Abstract][Full Text] [Related]
7. The benign c.344G > A: p.(Arg115His) variant in the LDLR gene interpreted from a pedigree-based genetic analysis of familial hypercholesterolemia. Hori M; Takahashi A; Son C; Ogura M; Harada-Shiba M Lipids Health Dis; 2020 Apr; 19(1):62. PubMed ID: 32252761 [TBL] [Abstract][Full Text] [Related]
8. Lipid phenotype and heritage pattern in families with genetic hypercholesterolemia not related to LDLR, APOB, PCSK9, or APOE. Jarauta E; Pérez-Ruiz MR; Pérez-Calahorra S; Mateo-Gallego R; Cenarro A; Cofán M; Ros E; Civeira F; Tejedor MT J Clin Lipidol; 2016; 10(6):1397-1405.e2. PubMed ID: 27919357 [TBL] [Abstract][Full Text] [Related]
9. Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia. Lv X; Wang C; Liu L; Yin G; Zhang W; Abdu FA; Shi T; Zhang Q; Che W Lipids Health Dis; 2023 Oct; 22(1):175. PubMed ID: 37853441 [TBL] [Abstract][Full Text] [Related]
10. A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia. Reeskamp LF; Hartgers ML; Peter J; Dallinga-Thie GM; Zuurbier L; Defesche JC; Grefhorst A; Hovingh GK Circ Genom Precis Med; 2018 Dec; 11(12):e002385. PubMed ID: 30562117 [TBL] [Abstract][Full Text] [Related]
11. Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation. Mabuchi H; Nohara A; Noguchi T; Kobayashi J; Kawashiri MA; Inoue T; Mori M; Tada H; Nakanishi C; Yagi K; Yamagishi M; Ueda K; Takegoshi T; Miyamoto S; Inazu A; Koizumi J; Atherosclerosis; 2014 Sep; 236(1):54-61. PubMed ID: 25014035 [TBL] [Abstract][Full Text] [Related]
12. Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients. Hori M; Ohta N; Takahashi A; Masuda H; Isoda R; Yamamoto S; Son C; Ogura M; Hosoda K; Miyamoto Y; Harada-Shiba M Atherosclerosis; 2019 Oct; 289():101-108. PubMed ID: 31491741 [TBL] [Abstract][Full Text] [Related]
13. Novel PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Variants in Patients With Familial Hypercholesterolemia From Cape Town. Huijgen R; Blom DJ; Hartgers ML; Chemello K; Benito-Vicente A; Uribe KB; Behardien Z; Blackhurst DM; Brice BC; Defesche JC; de Jong AG; Jooste RJ; Solomon GAE; Wolmarans KH; Hovingh GK; Martin C; Lambert G; Marais AD Arterioscler Thromb Vasc Biol; 2021 Feb; 41(2):934-943. PubMed ID: 33147992 [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. Association between causative mutations and response to PCSK9 inhibitor therapy in subjects with familial hypercholesterolemia: A single center real-world study. Iannuzzo G; Buonaiuto A; Calcaterra I; Gentile M; Forte F; Tripaldella M; Di Taranto MD; Giacobbe C; Fortunato G; Rubba PO; Di Minno MND Nutr Metab Cardiovasc Dis; 2022 Mar; 32(3):684-691. PubMed ID: 34991937 [TBL] [Abstract][Full Text] [Related]
16. Identification of a novel LDLR disease-causing variant using capture-based next-generation sequencing screening of familial hypercholesterolemia patients in Taiwan. Hsiung YC; Lin PC; Chen CS; Tung YC; Yang WS; Chen PL; Su TC Atherosclerosis; 2018 Oct; 277():440-447. PubMed ID: 30270083 [TBL] [Abstract][Full Text] [Related]
17. Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease. Al-Allaf FA; Athar M; Abduljaleel Z; Taher MM; Khan W; Ba-Hammam FA; Abalkhail H; Alashwal A Gene; 2015 Jul; 565(1):76-84. PubMed ID: 25839937 [TBL] [Abstract][Full Text] [Related]
18. Patients With Doi T; Hori M; Harada-Shiba M; Kataoka Y; Onozuka D; Nishimura K; Nishikawa R; Tsuda K; Ogura M; Son C; Miyamoto Y; Noguchi T; Shimokawa H; Yasuda S J Am Heart Assoc; 2021 Feb; 10(4):e018263. PubMed ID: 33533259 [TBL] [Abstract][Full Text] [Related]
19. Serum levels of proprotein convertase subtilisin/kexin type 9 in subjects with familial hypercholesterolemia indicate that proprotein convertase subtilisin/kexin type 9 is cleared from plasma by low-density lipoprotein receptor-independent pathways. Cameron J; Bogsrud MP; Tveten K; Strøm TB; Holven K; Berge KE; Leren TP Transl Res; 2012 Aug; 160(2):125-30. PubMed ID: 22683370 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]