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Autosomal dominante Hypercholesterinämie 1

Autosomal dominante Hypercholesterinämie 1 wird durch Mutationen im LDL-Rezeptor-Gen hervorgerufen. Patienten die zwei mutierte Allele tragen zeigen eine ganz massive LDL-Erhöhung.

Gliederung

Hypercholesterinämie
Autosomal dominante Hypercholesterinämie 1
LDLR
Autosomal dominante Hypercholesterinämie 2
Autosomal dominante Hypercholesterinämie 3
Autosomal rezessive Hypercholesterinämie
Lp(a) Hyperlipoproteinämie
Veranlagung für hohes LDL-Cholesterin

Referenzen:

1.

Takada D et al. (2002) 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.

external link
2.

Teslovich TM et al. (2010) Biological, clinical and population relevance of 95 loci for blood lipids.

external link
3.

Lewis MJ et al. (2009) Immunoglobulin M is required for protection against atherosclerosis in low-density lipoprotein receptor-deficient mice.

external link
4.

Kathiresan S et al. (2008) Polymorphisms associated with cholesterol and risk of cardiovascular events.

external link
5.

Lindgren V et al. (1985) Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes.

external link
6.

Aulchenko YS et al. (2009) Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

external link
7.

Takada D et al. (2003) Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: intra-familial association study in an eight-generation hyperlipidemic kindred.

external link
8.

Varret M et al. (1997) Software and database for the analysis of mutations in the human LDL receptor gene.

external link
9.

None (1991) Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada).

external link
10.

Kotze MJ et al. (1991) The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners.

external link
11.

Oppenheim A et al. (1991) Hypercholesterolemia in five Israeli Christian-Arab kindreds is caused by the "Lebanese" allele at the low density lipoprotein receptor gene locus and by an additional independent major factor.

external link
12.

Benlian P et al. (1990) A LDL receptor gene homozygous mutation: PCR amplification, direct genomic sequencing, associated haplotype, rapid screening for frequency.

external link
13.

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.

external link
14.

Lelli N et al. (1991) Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia.

external link
15.

Hobbs HH et al. (1990) The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein.

external link
16.

Leitersdorf E et al. (1990) Common low-density lipoprotein receptor mutations in the French Canadian population.

external link
17.

Kotze MJ et al. (1990) An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics.

external link
18.

Ruffner DE et al. (1987) Invasion of the human albumin-alpha-fetoprotein gene family by Alu, Kpn, and two novel repetitive DNA elements.

external link
19.

Yamakawa K et al. (1989) Three novel partial deletions of the low-density lipoprotein (LDL) receptor gene in familial hypercholesterolemia.

external link
20.

Boehnke M et al. (1989) Fine-structure genetic mapping of human chromosomes using the polymerase chain reaction on single sperm: experimental design considerations.

external link
21.

Leitersdorf E et al. (1989) Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.

external link
22.

Taylor R et al. (1989) A study of familial hypercholesterolaemia in Iceland using RFLPs.

external link
23.

Frank SL et al. (1989) Linkage of the mouse LDL receptor gene on chromosome 9.

external link
24.

Soutar AK et al. (1989) Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.

external link
25.

Aalto-Setälä K et al. (1989) Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype.

external link
26.

Hobbs HH et al. (1989) Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors.

external link
27.

Miyake Y et al. (1989) Analysis of a recycling-impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia.

external link
28.

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.

external link
29.

Kajinami K et al. () New variant of low density lipoprotein receptor gene. FH-Tonami.

external link
30.

Langlois S et al. (1988) Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH).

external link
31.

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.

external link
32.

Yamakawa K et al. (1988) TaqI polymorphism in the LDL receptor gene and a TaqI 1.5-kb band associated with familial hypercholesterolemia.

external link
33.

Esser V et al. (1988) Transport-deficient mutations in the low density lipoprotein receptor. Alterations in the cysteine-rich and cysteine-poor regions of the protein block intracellular transport.

external link
34.

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.

external link
35.

Knight BL et al. (1989) Defective processing and binding of low-density lipoprotein receptors in fibroblasts from a familial hypercholesterolaemic subject.

external link
36.

Südhof TC et al. (1985) The LDL receptor gene: a mosaic of exons shared with different proteins.

external link
37.

Horsthemke B et al. (1985) Identification of a deletion in the low density lipoprotein (LDL) receptor gene in a patient with familial hypercholesterolaemia.

external link
38.

Hobbs HH et al. (1985) Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene.

external link
39.

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.

external link
40.

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.

external link
41.

Slagel V et al. (1987) Clustering and subfamily relationships of the Alu family in the human genome.

external link
42.

Lehrman MA et al. (1985) Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains.

external link
43.

Henderson HE et al. (1988) A new LDL receptor gene deletion mutation in the South African population.

external link
44.

Leitersdorf E et al. (1988) Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia.

external link
45.

Hobbs HH et al. (1988) Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions.

external link
46.

Li HH et al. (1988) Amplification and analysis of DNA sequences in single human sperm and diploid cells.

external link
47.

Komuro I et al. (1987) The longest-lived patient with homozygous familial hypercholesterolemia secondary to a defect in internalization of the LDL receptor.

external link
48.

Kotze MJ et al. (1987) Haplotype associations of three DNA polymorphisms at the human low density lipoprotein receptor gene locus in familial hypercholesterolaemia.

external link
49.

Russell DW et al. (1986) The LDL receptor in familial hypercholesterolemia: use of human mutations to dissect a membrane protein.

external link
50.

Horsthemke B et al. (1987) Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia.

external link
51.

Horsthemke B et al. (1987) Identification of deletions in the human low density lipoprotein receptor gene.

external link
52.

Hobbs HH et al. (1987) Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia.

external link
53.

Lehrman MA et al. (1987) Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia.

external link
54.

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.

external link
55.

Südhof TC et al. (1985) Cassette of eight exons shared by genes for LDL receptor and EGF precursor.

external link
56.

Lehrman MA et al. (1985) Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain.

external link
57.

Davis CG et al. (1986) The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors.

external link
58.

None (1985) Genes-in-pieces revisited.

external link
59.

Brown MS et al. (1974) Familial hypercholesterolemia: defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity.

external link
60.

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.

external link
61.

Yamamoto T et al. (1984) The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA.

external link
62.

Torrington M et al. (1981) Familial hypercholesterolaemia and church affiliation.

external link
63.

Ullu E et al. () Alu sequences are processed 7SL RNA genes.

external link
64.

Tolleshaug H et al. (1982) Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia.

external link
65.

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.

external link
66.

Russell DW et al. (1984) Domain map of the LDL receptor: sequence homology with the epidermal growth factor precursor.

external link
67.

Allen JM et al. (1980) Cadiovascular complications of homozygous familial hypercholesterolaemia.

external link
68.

Seftel HC et al. (1980) A host of hypercholesterolaemic homozygotes in South Africa.

external link
69.

Koivisto UM et al. (1995) Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823>Asp and Leu380>His) and eight rare mutations of the LDL receptor gene.

external link
70.

Kotze MJ et al. (1995) A de novo duplication in the low density lipoprotein receptor gene.

external link
71.

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.

external link
72.

Leren TP et al. (1994) Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects.

external link
73.

Defesche JC et al. (1993) South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population.

external link
74.

Grossman M et al. (1994) Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolaemia.

external link
75.

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.

external link
76.

Moorjani S et al. (1993) Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia.

external link
77.

Savov A et al. (1995) Double mutant alleles: are they rare?

external link
78.

Feussner G et al. (1996) Unusual xanthomas in a young patient with heterozygous familial hypercholesterolemia and type III hyperlipoproteinemia.

external link
79.

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.

external link
80.

Gudnason V et al. (1997) Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population.

external link
81.

Vuorio AF et al. (1997) Familial hypercholesterolemia in the Finnish north Karelia. A molecular, clinical, and genealogical study.

external link
82.

Vergopoulos A et al. () A xanthomatosis-susceptibility gene may exist in a Syrian family with familial hypercholesterolemia.

external link
83.

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.

external link
84.

Lee WK et al. (1998) Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.

external link
85.

Mandelshtam M et al. (1998) Prevalence of Lithuanian mutation among St. Petersburg Jews with familial hypercholesterolemia.

external link
86.

Defesche JC et al. (1998) Molecular epidemiology of familial hypercholesterolaemia.

external link
87.

Ekström U et al. (1999) An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).

external link
88.

Agnello V et al. (1999) Hepatitis C virus and other flaviviridae viruses enter cells via low density lipoprotein receptor.

external link
89.

Knoblauch H et al. (2000) A cholesterol-lowering gene maps to chromosome 13q.

external link
90.

Thiart R et al. (2000) Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.

external link
91.

Jensen JM et al. (1999) Linking genotype to aorto-coronary atherosclerosis: a model using familial hypercholesterolemia and aorto-coronary calcification.

external link
92.

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.

external link
93.

Durst R et al. (2001) Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.

external link
94.

Koivisto UM et al. (2001) A novel cellular phenotype for familial hypercholesterolemia due to a defect in polarized targeting of LDL receptor.

external link
95.

Vergotine J et al. (2001) Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population.

external link
96.

Pisciotta L et al. (2002) A "de novo" mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia.

external link
97.

Amsellem S et al. (2002) Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.

external link
98.

Rudenko G et al. (2002) Structure of the LDL receptor extracellular domain at endosomal pH.

external link
99.

None (1964) THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA.

external link
100.

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.

external link
101.

Sato K et al. (2004) Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: intrafamilial association study in an eight-generation hyperlipidemic kindred.

external link
102.

Simard LR et al. (2004) The Delta>15 Kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid polymerase chain reaction-based diagnostic assay and prevalence in Quebec.

external link
103.

Bourbon M et al. (2007) A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing.

external link
104.

Lo JC et al. (2007) Lymphotoxin beta receptor-dependent control of lipid homeostasis.

external link
105.

Johansson F et al. (2008) Type 1 diabetes promotes disruption of advanced atherosclerotic lesions in LDL receptor-deficient mice.

external link
106.

Defesche JC et al. (2008) Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing.

external link
107.

Zelcer N et al. (2009) LXR regulates cholesterol uptake through Idol-dependent ubiquitination of the LDL receptor.

external link
108.

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.

external link
109.

Hobbs HH et al. (1992) Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.

external link
110.

Brown MS et al. (1976) Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor-bound low density lipoprotein.

external link
111.

Goldstein JL et al. (1977) Genetics of the LDL receptor: evidence that the mutations affecting binding and internalization are allelic.

external link
112.

Goldstein JL et al. (1975) Genetic heterogeneity in familial hypercholesterolemia: evidence for two different mutations affecting functions of low-density lipoprotein receptor.

external link
113.

Elston RC et al. (1976) Probable linkage between essential familial hypercholesterolemia and third complement component (C3).

external link
114.

Bétard C et al. (1992) Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians.

external link
115.

Rødningen OK et al. (1992) A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects.

external link
116.

Aalto-Setälä K et al. (1992) Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland.

external link
117.

Goldfarb LG et al. (1992) Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.

external link
118.

Miyake Y et al. (1992) A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.

external link
119.

Rubinsztein DC et al. (1992) Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.

external link
120.

Defesche JC et al. (1992) Detection of the Pro664-Leu mutation in the low-density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from The Netherlands and Canada.

external link
121.

Bertolini S et al. (1992) A large deletion in the LDL receptor gene--the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FH-Pavia).

external link
122.

Top B et al. (1992) Absence of mutations in the promoter region of the low density lipoprotein receptor gene in a large number of familial hypercholesterolaemia patients as revealed by denaturing gradient gel electrophoresis.

external link
123.

Koivisto UM et al. (1992) The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.

external link
124.

Loux N et al. (1991) Recurrent mutation at aa 792 in the LDL receptor gene in a French patient.

external link
125.

Fumeron F et al. (1992) Presence of the French Canadian deletion in a French patient with familial hypercholesterolemia.

external link
126.

Landsberger D et al. (1992) A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect.

external link
127.

Graadt van Roggen F et al. (1991) Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: a comparison of two geographical areas.

external link
128.

Soutar AK et al. (1991) Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene.

external link
129.

Rüdiger NS et al. (1991) DNA deletions in the low density lipoprotein (LDL) receptor gene in Danish families with familial hypercholesterolemia.

external link
130.

Meiner V et al. (1991) A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.

external link
131.

Brown MS et al. (1979) Receptor-mediated endocytosis: insights from the lipoprotein receptor system.

external link
132.

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