Combined familial hyperlipidemia with dysfunctional LDL clearance is a group of disorder in which mutations cause an impaired eleimination of LDL from plasma.
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Ye J et al. (2000) ER stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPs. |
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Kohl S et al. (2015) Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. |
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Cohen JC et al. (2006) Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. |
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Zhao Z et al. (2006) Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote. |
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27. |
Mayne J et al. (2007) Plasma PCSK9 levels correlate with cholesterol in men but not in women. |
28. |
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31. |
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33. |
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Top B et al. (1990) Rearrangements in the LDL receptor gene in Dutch familial hypercholesterolemic patients and the presence of a common 4 kb deletion. |
35. |
Lelli N et al. (1991) Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia. |
36. |
Hobbs HH et al. (1990) The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. |
37. |
Leitersdorf E et al. (1990) Common low-density lipoprotein receptor mutations in the French Canadian population. |
38. |
Kotze MJ et al. (1990) An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics. |
39. |
Ruffner DE et al. (1987) Invasion of the human albumin-alpha-fetoprotein gene family by Alu, Kpn, and two novel repetitive DNA elements. |
40. |
Yamakawa K et al. (1989) Three novel partial deletions of the low-density lipoprotein (LDL) receptor gene in familial hypercholesterolemia. |
41. |
Boehnke M et al. (1989) Fine-structure genetic mapping of human chromosomes using the polymerase chain reaction on single sperm: experimental design considerations. |
42. |
Leitersdorf E et al. (1989) Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners. |
43. |
Taylor R et al. (1989) A study of familial hypercholesterolaemia in Iceland using RFLPs. |
44. |
Frank SL et al. (1989) Linkage of the mouse LDL receptor gene on chromosome 9. |
47. |
Hobbs HH et al. (1989) Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors. |
48. |
Miyake Y et al. (1989) Analysis of a recycling-impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia. |
49. |
Ma YH et al. (1989) Identification of a second "French Canadian" LDL receptor gene deletion and development of a rapid method to detect both deletions. |
50. |
Kajinami K et al. () New variant of low density lipoprotein receptor gene. FH-Tonami. |
51. |
Langlois S et al. (1988) Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH). |
52. |
Brink PA et al. (1987) Familial hypercholesterolemia in South African Afrikaners. PvuII and StuI DNA polymorphisms in the LDL-receptor gene consistent with a predominating founder gene effect. |
53. |
Yamakawa K et al. (1988) TaqI polymorphism in the LDL receptor gene and a TaqI 1.5-kb band associated with familial hypercholesterolemia. |
55. |
Steyn K et al. (1989) The use of low density lipoprotein receptor activity of lymphocytes to determine the prevalence of familial hypercholesterolaemia in a rural South African community. |
56. |
Knight BL et al. (1989) Defective processing and binding of low-density lipoprotein receptors in fibroblasts from a familial hypercholesterolaemic subject. |
57. |
Südhof TC et al. (1985) The LDL receptor gene: a mosaic of exons shared with different proteins. |
58. |
Horsthemke B et al. (1985) Identification of a deletion in the low density lipoprotein (LDL) receptor gene in a patient with familial hypercholesterolaemia. |
59. |
Hobbs HH et al. (1985) Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene. |
60. |
Lehrman MA et al. (1986) Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia. |
61. |
Hobbs HH et al. (1986) Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia. |
62. |
Slagel V et al. (1987) Clustering and subfamily relationships of the Alu family in the human genome. |
63. |
Lehrman MA et al. (1985) Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. |
64. |
Henderson HE et al. (1988) A new LDL receptor gene deletion mutation in the South African population. |
66. |
Hobbs HH et al. (1988) Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions. |
67. |
Li HH et al. (1988) Amplification and analysis of DNA sequences in single human sperm and diploid cells. |
68. |
Komuro I et al. (1987) The longest-lived patient with homozygous familial hypercholesterolemia secondary to a defect in internalization of the LDL receptor. |
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Kotze MJ et al. (1987) Haplotype associations of three DNA polymorphisms at the human low density lipoprotein receptor gene locus in familial hypercholesterolaemia. |
70. |
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72. |
Horsthemke B et al. (1987) Identification of deletions in the human low density lipoprotein receptor gene. |
73. |
Hobbs HH et al. (1987) Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia. |
74. |
Lehrman MA et al. (1987) Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia. |
75. |
Lehrman MA et al. (1987) Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia. |
76. |
Südhof TC et al. (1985) Cassette of eight exons shared by genes for LDL receptor and EGF precursor. |
77. |
Lehrman MA et al. (1985) Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain. |
78. |
Davis CG et al. (1986) The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors. |
79. |
None (1985) Genes-in-pieces revisited. |
81. |
Goldstein JL et al. (1973) Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. |
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Kingsley DM et al. (1984) Receptor-mediated endocytosis of low density lipoprotein: somatic cell mutants define multiple genes required for expression of surface-receptor activity. |
83. |
Yamamoto T et al. (1984) The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. |
84. |
Torrington M et al. (1981) Familial hypercholesterolaemia and church affiliation. |
85. |
Ullu E et al. () Alu sequences are processed 7SL RNA genes. |
86. |
Tolleshaug H et al. (1982) Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia. |
87. |
Francke U et al. (1984) Assignment of the human gene for the low density lipoprotein receptor to chromosome 19: synteny of a receptor, a ligand, and a genetic disease. |
88. |
Russell DW et al. (1984) Domain map of the LDL receptor: sequence homology with the epidermal growth factor precursor. |
89. |
Allen JM et al. (1980) Cadiovascular complications of homozygous familial hypercholesterolaemia. |
90. |
Seftel HC et al. (1980) A host of hypercholesterolaemic homozygotes in South Africa. |
92. |
Kotze MJ et al. (1995) A de novo duplication in the low density lipoprotein receptor gene. |
93. |
Schuster H et al. (1995) Identification of the valine 408 to methionine mutation in the LDL receptor in a Greek patient with homozygous familial hypercholesterolemia. |
94. |
Leren TP et al. (1994) Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects. |
96. |
Defesche JC et al. (1993) South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population. |
97. |
Grossman M et al. (1994) Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolaemia. |
98. |
Schuster H et al. (1993) Identification of the serine-156 to leucine mutation in the low-density lipoprotein receptor in a German family with familial hypercholesterolemia. |
100. |
Savov A et al. (1995) Double mutant alleles: are they rare? |
101. |
Feussner G et al. (1996) Unusual xanthomas in a young patient with heterozygous familial hypercholesterolemia and type III hyperlipoproteinemia. |
102. |
Jensen HK et al. (1997) Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia. |
103. |
Gudnason V et al. (1997) Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population. |
104. |
Vuorio AF et al. (1997) Familial hypercholesterolemia in the Finnish north Karelia. A molecular, clinical, and genealogical study. |
105. |
Vergopoulos A et al. () A xanthomatosis-susceptibility gene may exist in a Syrian family with familial hypercholesterolemia. |
106. |
Wilson DJ et al. (1998) A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia: sequence-based, tabular, and direct submission data handling. |
107. |
Lee WK et al. (1998) Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland. |
108. |
Mandelshtam M et al. (1998) Prevalence of Lithuanian mutation among St. Petersburg Jews with familial hypercholesterolemia. |
109. |
Defesche JC et al. (1998) Molecular epidemiology of familial hypercholesterolaemia. |
110. |
Ekström U et al. (1999) An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). |
111. |
Agnello V et al. (1999) Hepatitis C virus and other flaviviridae viruses enter cells via low density lipoprotein receptor. |
112. |
Knoblauch H et al. (2000) A cholesterol-lowering gene maps to chromosome 13q. |
113. |
Thiart R et al. (2000) Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia. |
114. |
Jensen JM et al. (1999) Linking genotype to aorto-coronary atherosclerosis: a model using familial hypercholesterolemia and aorto-coronary calcification. |
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Takahashi M et al. (2001) A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia. |
117. |
Koivisto UM et al. (2001) A novel cellular phenotype for familial hypercholesterolemia due to a defect in polarized targeting of LDL receptor. |
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Vergotine J et al. (2001) Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population. |
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Pisciotta L et al. (2002) A "de novo" mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia. |
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Amsellem S et al. (2002) Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia. |
121. |
Rudenko G et al. (2002) Structure of the LDL receptor extracellular domain at endosomal pH. |
122. |
None (1964) THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA. |
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Dedoussis GV et al. (2003) FH-Pyrgos: a novel mutation in the promoter (-45delT) of the low-density lipoprotein receptor gene associated with familial hypercholesterolemia. |
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Bourbon M et al. (2007) A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing. |
127. |
Lo JC et al. (2007) Lymphotoxin beta receptor-dependent control of lipid homeostasis. |
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Johansson F et al. (2008) Type 1 diabetes promotes disruption of advanced atherosclerotic lesions in LDL receptor-deficient mice. |
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Defesche JC et al. (2008) Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing. |
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Zelcer N et al. (2009) LXR regulates cholesterol uptake through Idol-dependent ubiquitination of the LDL receptor. |
131. |
Huijgen R et al. (2010) Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia. |
132. |
Kulseth MA et al. (2010) Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site. |
133. |
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