1) Khachadurian AK, Uthman SM : Experiences with the homozygous cases of familial hypercholesterolemia. A report of 52 patients. Nutr Metab 1973 ; 15 : 132-140.
2) Bujo H, Takahashi K, et al : Clinical features of familial hypercholesterolemia in Japan in a database from 1996-1998 by the research committee of the ministry of health, labour and welfare of Japan. J Atheroscler Thromb 2004 ; 11 : 146-151
3) Nordestgaard BG, Chapman MJ, et al: Familial hypercholesterolaemia is underdiagnosed and undertreated in the gener al population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 2013; 3478-3490.
4) Yamamoto T, Bishop RW, et al: Deletion in cysteine-rich region of LDL receptor impedes transport to cell surface in WHHL rabbit. Science 1986; 232: 1230-1237.
5) Tanzawa K, Shimada Y, et al: WHHL-rabbit: a low density lipoprotein receptor-deficient animal model for familial hypercholesterolemia. FEBS Lett 1980; 118: 81-84.
6) Watts GF, Lewis B, et al: Familial hypercholesterolemia: amissed opportunity in preventive medicine. Nat Clin Pract CardiovascMed. 2007; 4: 404–405.
7) Austin MA, Hutter CM, et al: Familial hypercholesterolemia and coronary heart disease: a HuGE associationreview. Am J Epidemiol 2004; 160: 421–429.
8) Nordestgaard BG, Chapman MJ, et al : Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 2013; 34: 3478-3490.
9) Harada-Shiba M, Arai H, et al, Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017. J. Atheroscler. Thromb. 2018; 25: 751-770.
10) FH Foundation; Diagnostic Criteria for Familial Hypercholesterolemia (https://thefhfoundation.org/diagnostic-criteria-for-familia-hypercholesterol emia)
11) Harada-Shiba M, Ako J, et al : Prevalence of familial hypercholesterolemia in patients with acute coronary syndrome in Japan: Results of the EXPLORE-J study. Atherosclerosis 2018; 277: 362-368.
12) Rallidis L, Naoumova RP, et al: Extent and severity of atherosclerotic involvement of the aortic valve and root in familial hypercholesterolaemia. Heart 1998 ; 80 : 583-590.
13) Harada-Shiba M, Sugisawa T, et al : Impact of statin treatment on the clinical fate of heterozygous familial hypercholesterolemia. J Atheroscler Thromb
14) Uauy R, Vega GL, et al: Lovastatin therapy in receptor-negative homozygous familial hypercholesterolemia：lack of effect on low-density lipoprotein concentrations or turnover. J Pediatr 1988；113：387-392.
15) Stein EA, Honarpour N, et al: Effect of the proprotein convertase subtilisin/kexin 9 monoclonal antibody, AMG 145, in homozygous familial hypercholesterolemia Circulation, 2013；128：2113-2120.
16) Raal FJ, Hovingh GK, et al: Long-term treatment with evolocumab added to conventional drug therapy, with or without apheresis, in patients with homozygous familial hypercholesterolaemia: an interim subset analysis of the open-label TAUSSIG study. Lancet Diabetes Endocrinol 2017; 5: 280-290.
17) Raal FJ, Stein EA, et al : PCSK9 inhibition with evolocumab (AMG 145) in heterozygous familial hypercholesterolaemia (RUTHERFORD-2): a randomised, double-blind, placebo-controlled trial. Lancet 2015; 385: 331-40.
18) Yagi K, Hifumi S, et al : Difference in the risk factors for coronary, renal and other peripheral arteriosclerosis in heterozygous familial hypercholesterolemia. Circ J 2004 ; 68 : 623-627
19) Nozue T, Kawashiri MA, et al: Cholesterol-years score is associated with development of senile degenerative aortic stenosis in heterozygous familial hypercholesterolemia. J Atheroscler Thromb 2006 ; 13 : 323-328.
20) Otto CM, Lind BK, et al : Association of aortic-valve sclerosis with cardiovascular mortality and morbidity in the elderly. N Engl J Med 1999; 341: 142-147.
21) Kawaguchi A, Yutani C, et al : Hypercholesterolemic Valvulopathy: An Aspect of Malignant Atherosclerosis. Ther Apher Dial 2003; 7: 439-443.
22) Yutani C, Go S, et al : Autopsy findings in two patients with homozygous familial hypercholesterolemia. Special references to apolipoprotein B localization and internalization defect of low density lipoprotein. Acta pathol jan 1987; 37(9): 1489-1504.
23) Brown MS, Goldstein JL: Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man. Science 1974; 185: 61-63.
24) Varret M, Abifadel M, et al : Genetic heterogeneity of autosomal dominant hypercholesterolemia. Clin Genet 2008 ; 73 : 1-13.
25) Kajinami K, Fujita H, et al: Genetically-determined mild type of familial hypercholestero lemia including normocholester olemic patients: FH-Tonami-2.Circulation 80; II: 278,1989.
26) Hayato Tada 1, Masa-aki Kawashiri, et al : A Novel Method for Determining Functional LDL Receptor Activity in Familial Hypercholesterolemia: Application of the CD3/CD28 Assay in Lymphocytes. Clin Chim Acta 2009 ; 400: 42-47.
27) Vega GL, Grundy SM : In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia. J Clin Invest 1986 ; 78 : 1410-1414.
28) Nohara A, Yagi K, et al: Absence of familial defective apolipoprotein B-100 in Japanese patients with familial hypercholesterolaemia. Lancet 1995; 345: 1438.
29) Abifadel M, Varret M, et al: Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet 2003; 34: 154－156.
30) Lambert G, Charlton F, et al: Molecular basis of PCSK9 function. Atherosclerosis 2009; 203:1-7.
31) Allard D, Amsellem S, et al : Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia. Hum Mutat 2005; 26:497.
32) Horton JD, Cohen JC, et al : Molecular biology of PCSK9: its role in LDL metabolism. Trends Biochem Sci 2007; 32: 71–77.
33) Cohen JC, Boerwinkle E, et al : Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med 2006; 354: 1264–1272.
34) Hopkins PN, Defesche J, et al : Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and its Specific Treatment with Alirocumab, a PCSK9 Monoclonal Antibody. Circ Cardiovasc Genet 2015; 8: 823–831.
35) Noguchi T, Katsuda S, et al: The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation. Atherosclerosis 2010; 210: 166-172.
36) Yu W, Nohara A, et al : Molecular genetic analysis of familial hypercholesterolemia spectrum and regional difference of LDL receptor gene mutations in Japanese population. Atherosclerosis 2002; 165: 335–342.
37) Harada-Shiba M, Tajima S, et al : Analysis of hypercholesterolemia with family history and normal LDL receptor. Journal of Atherosclerosis and Thrombosis 1991 ;19 : 227-242.
38) Harada-Shiba M, Tajima S, et al : Siblings with normal LDL receptor activity and severe hypercholesterolemia. Arterioscler Thromb 1992 ; 12 : 1071-1078.
39) Harada-Shiba, Takagi A, et al : Clinical features and genetic analysis of autosomal recessive hypercholesterolemia. J Clin Endocrinol Metab 2003; 88:2541-2547.
40) Jansen AC, van Wissen, et al : Phenotypic variability in familial hypercholesterolaemia: an update. Curr Opin Lipidol 2002; 13: 165-171.
41) Thompson GR, Seed M, et al : Genotypic and phenotypic variation in familial hypercholesterolaemia. Atherosclerosis 1989; 9: 175-180.
42) Motazacker MM, James Pirruccello, et al; Advances in Genetics Show the Need for Extending Screening Strategies for Autosomal Dominant Hypercholesterolaemia. Eur Heart J 2012 ; 33 (11): 1360-1366.
43) Hobbs HH, Brown MS, et al : Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum. Mutat 1992; 1(6): 445–466.
44) J Cameron OL, Holla JK, et al: Characterization of novel mutations in the catalytic domain of the PCSK9 gene. J. Intern. Med 2008; 263: 420–431.
45) T.Fasano T, Sun XM,et al : Degradation of LDLR protein mediated by 'gainoffunction' PCSK9 mutants in normal and ARH cells. Atherosclerosis 2009; 203: 166–171.
46) Sugisawa T, Okamura T, et al : Defining patients at extremely high risk for coronary artery disease in heterozygous familial hypercholesterolemia. J Atheroscler Thromb. 2012 ;19 (4): 369-75.
47) Ogura M,Hori M,et al : Association between cholesterol effluxcapacity and atherosclerotic cardiovascular disease in patients with familial hypercholesterolemia. Arterioscler. Thromb. Vasc. Biol. 2010; 36: 181–188.
48) Funahashi T, Miyake Y, et al : Mutations of the low density lipoprotein receptor in Japanese kindreds with familial hypercholesterolemia. Hum. Genet 1988; 79: 103–108.
49) Miyake Y, Tajima S, et al : A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor. Eur. J. Biochem 1992; 210: 1–7.
50) Mabuchi H, Nohara A, et al : Hokuriku FH Study Group. Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation. Atherosclerosis 2014; 236: 54–61.
51) Leren TP : Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. Clin Genet 2004; 65: 419–422.
52) Sun XM, Eden ER, et al : Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia. Hum Mol Genet 2005; 14: 1161–1169.
53) Marduel M, Carrié A, et al : Molecular spectrum of autosomal dominant hypercholesterolemia in France. Hum Mutat 2010; 31: E1811-1824.
54) Abifadel M, Rabès JP, et al: Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease. Hum Mutat 2009; 30: 520-529.
55) Pisciotta L, Priore Oliva C, Cefalù AB, Noto D, Bellocchio A, Fresa R, Cantafora A, Patel D, et al : Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia. Atherosclerosis 2006; 186: 433–440.
56) Yue P, Averna M, et al : The c.43_44insCTG variation in PCSK9 is associated with low plasma LDL-cholesterol in a Caucasian population. Hum Mutat 2006; 27: 460–466.
57) Abifadel M, Bernier L, et al : A PCSK9 variant and familial combined hyperlipidaemia. J Med Genet. 2008; 45: 780-786.
58) Mabuchi M, Nohara A, et al : Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan. Atherosclerosis 2011; 214: 404–407.
59) Noguchi T, Katsuda S, et al: The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolemia by increasing PCSK9 function and concentration in the circulation. Atherosclerosis 2010; 210: 166–172.
60) Abul-Husn NS, Manickam K, et al: Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science 2016 Dec 23; 354 (6319) : pii.
61) Paquette M, Dufour R, et al : The Montreal-FH-SCORE a new score to predict cardiovascular events in familial hypercholesterolemia. J. Clin. Lipidol 2017; 11: 80–86.
62) Paquette M, Bernard S, et al : Diabetes is associated with an increased risk of cardiovascular disease in patients with familial hypercholesterolemia, J. Clin. Lipidol 2019; 13: 123–128.
63) Weissglas-Volkov D, Calkin AC, et al : The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans. J Clin Invest 2011; 121: 3062–3071.
64) Fouchier SW, Dallinga-Thie GM, et al : Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia. Circ Res 2014; 115: 552–555.
65) Rallidis L, Naoumova RP, et al : Extent and severity of atherosclerotic involvement of the aortic valve and root in familial hypercholesterolaemia. Heart 1998 ; 80 : 583-590.
66) Otto CM, Kuusisto J, et al : Characterization of the early lesion of‘ degenerative valvular aortic stenosis. Histological and immunohistochemical studies. Circulation 1994; 90: 844-853.
67) Olsson M, Dalsgaard CJ, Haegerstrand A, et al. Accumulation of T lymphocytes and expression of interleukin-2 receptors in nonrheumatic stenotic aortic valves. J Am Coll Cardiol 1994; 23: 1162-1170.
68) Liberman M, Bassi E, et al : Oxidant generation predominates around calcifying foci and enhances progression of aortic valve calcification. Arterioscler Thromb Vasc Biol 2008; 28: 463-470.
69) Miller JD, Chu Y, et al : Dysregulation of antioxidant mechanisms contributes to increased oxidative stress in calcific aortic valvular stenosis in humans. J Am Coll Cardiol 2008; 52: 843-850.
70) Smith JG, Luk K, et al : Association of low-density lipoprotein cholesterol-related genetic variants with aortic valve calcium and incident aortic stenosis. JAMA 2014 ; 312(17): 1764–1771.
71) Brook GJ, Keidar S, et al : Familial homozygous hypercholesterolemia: clinical and cardiovascular feature in 18 patients. Clin Cardiol 1989; 12: 333-338.
72) Summers RM, Andrasko-Bourgeois J, et al : Evaluation of the aortic root by MRI: insights from patients with homozygous familial hypercholesterolemia. Circulation 1998; 98: 509-518.
73) Rallidis L, Naoumova RP, et al : Extent and severity of atherosclerotic involvement of the aortic valve and root in familial hypercholesterolemia. Heart 1998; 80: 583-590.
74) Stewar t BF, Siscovick D, et al : Clinical factors associated with calcific aortic valve disease. J Am Coll Cardiol 1997; 29: 630 -634.
75) Freeman RV, Otto CM : Spectrum of calcific aortic valve disease: pathogenesis, disease progression, and treatment strategies. Circulation 2005; 111: 3316-3326.
76) Rajamannan NM, Subramaniam M, et al : Human aortic valve calcification is associated with an osteoblast phenotype. Circulation 2003; 107: 2181-2184.
77) Stewar t BF, Siscovick D, et al : Clinical factors associated with calcific aortic valve disease. J Am Coll Cardiol 1997; 29: 630 -634.
78) Hsu HH, Camacho NP : Isolation of calcifiable vesicles from human atherosclerotic aortas. Atherosclerosis 1999; 143: 353-362.
79) Stiko-Rahm A, Hultgårdh-Nilsson A, et al : Native and oxidized LDL enhances production of PDGF AA and the surface expression of PDGF receptors in cultured human smooth muscle cells. Arterioscler Thromb 1992; 12: 1099-1109.
80) Yu B, Hafiane A, et al : Lipoprotein(a) induces human aortic valve interstitial cell calcification. JACC Basic Transl Sci 2017; 2(4): 358-371.
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