Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Altersabhängige Makuladegeneration 01

Die altersabhängige Makuladegeneration ist eine erbliche immunologisch bedingte Erkrankung, die mit vielen verschiedenen Genen in Zusammenhang gebracht wurde.

Gliederung

Makuladegeneration
Altersabhängige Makuladegeneration 01
APOE
ARMS2
C2
C3
CFH
CFHR1
CFHR3
KCNT2
Früheinsetzende Makuladegeneration

Referenzen:

1.

Postel EA et al. (2005) Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families.

external link
2.

Kim DH et al. (2007) Strategies for silencing human disease using RNA interference.

external link
3.

Decanini A et al. (2007) Changes in select redox proteins of the retinal pigment epithelium in age-related macular degeneration.

external link
4.

Tan JS et al. (2007) Cardiovascular risk factors and the long-term incidence of age-related macular degeneration: the Blue Mountains Eye Study.

external link
5.

Fisher SA et al. (2007) Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD).

external link
6.

Tamer C et al. (2007) Serum dehydroepiandrosterone sulphate level in age-related macular degeneration.

external link
7.

Nolan JM et al. (2007) Risk factors for age-related maculopathy are associated with a relative lack of macular pigment.

external link
8.

None (2006) Age-related macular degeneration.

external link
9.

Imamura Y et al. (2006) Drusen, choroidal neovascularization, and retinal pigment epithelium dysfunction in SOD1-deficient mice: a model of age-related macular degeneration.

external link
10.

Chowers I et al. (2006) The iron carrier transferrin is upregulated in retinas from patients with age-related macular degeneration.

external link
11.

Thornton J et al. (2005) Smoking and age-related macular degeneration: a review of association.

external link
12.

Schultz DW et al. (2005) HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective.

external link
13.

Dunaief JL et al. (2005) Macular degeneration in a patient with aceruloplasminemia, a disease associated with retinal iron overload.

external link
14.

Gupta SK et al. (2007) Prevalence of early and late age-related macular degeneration in a rural population in northern India: the INDEYE feasibility study.

external link
15.

Ethen CM et al. (2005) Declines in arrestin and rhodopsin in the macula with progression of age-related macular degeneration.

external link
16.

Jonasson F et al. (2005) 5-year incidence of age-related maculopathy in the Reykjavik Eye Study.

external link
17.

None (2004) Current concepts in the pathogenesis of age-related macular degeneration.

external link
18.

Klein R et al. (2004) The epidemiology of age-related macular degeneration.

external link
19.

Jonas JB et al. (2004) Intravitreal reinjection of triamcinolone for exudative age-related macular degeneration.

external link
20.

Grisanti S et al. (2004) Expression of endoglin in choroidal neovascularization.

external link
21.

Scholl HP et al. (2004) What is lost by digitizing stereoscopic fundus color slides for macular grading in age-related maculopathy and degeneration?

external link
22.

Axer-Siegel R et al. (2004) Association of neovascular age-related macular degeneration and hyperhomocysteinemia.

external link
23.

Iyengar SK et al. (2004) Dissection of genomewide-scan data in extended families reveals a major locus and oligogenic susceptibility for age-related macular degeneration.

external link
24.

Espinosa-Heidmann DG et al. (2004) Basal laminar deposit formation in APO B100 transgenic mice: complex interactions between dietary fat, blue light, and vitamin E.

external link
25.

Schultz DW et al. (2003) Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family.

external link
26.

Lotery A et al. (2007) Progress in defining the molecular biology of age related macular degeneration.

external link
27.

Meyers SM et al. (1988) Monozygotic twins with age-related macular degeneration.

external link
28.

Fowler BJ et al. (2014) Nucleoside reverse transcriptase inhibitors possess intrinsic anti-inflammatory activity.

external link
29.

Arakawa S et al. (2011) Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.

external link
30.

Kaneko H et al. (2011) DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration.

external link
31.

Kondo N et al. (2010) Additional evidence to support the role of a common variant near the complement factor I gene in susceptibility to age-related macular degeneration.

external link
32.

Takeda A et al. (2009) CCR3 is a target for age-related macular degeneration diagnosis and therapy.

external link
33.

Allikmets R et al. (2009) Geographic atrophy in age-related macular degeneration and TLR3.

external link
34.

Edwards AO et al. (2009) Geographic atrophy in age-related macular degeneration and TLR3.

external link
35.

Fujihara M et al. (2009) A human apoB100 transgenic mouse expresses human apoB100 in the RPE and develops features of early AMD.

external link
36.

Yang Z et al. (2008) Toll-like receptor 3 and geographic atrophy in age-related macular degeneration.

external link
37.

Kleinman ME et al. (2008) Sequence- and target-independent angiogenesis suppression by siRNA via TLR3.

external link
38.

Bergeron-Sawitzke J et al. (2009) Multilocus analysis of age-related macular degeneration.

external link
39.

Thompson CL et al. (2007) Genetics of pigment changes and geographic atrophy.

external link
40.

Li C et al. (2007) Biochemical alterations in the retinas of very low-density lipoprotein receptor knockout mice: an animal model of retinal angiomatous proliferation.

external link
41.

Maruko I et al. (2007) Clinical characteristics of exudative age-related macular degeneration in Japanese patients.

external link
42.

De S et al. (2007) Human retinal pigment epithelium cell changes and expression of alphaB-crystallin: a biomarker for retinal pigment epithelium cell change in age-related macular degeneration.

external link
43.

Sivaprasad S et al. (2007) Estimation of systemic complement C3 activity in age-related macular degeneration.

external link
44.

Kamei M et al. (2007) Scavenger receptors for oxidized lipoprotein in age-related macular degeneration.

external link
45.

Bhosale P et al. (2007) Identification of 3-methoxyzeaxanthin as a novel age-related carotenoid metabolite in the human macula.

external link
46.

Tan JS et al. (2007) Statins and the long-term risk of incident age-related macular degeneration: the Blue Mountains Eye Study.

external link
47.

Schaumberg DA et al. (2007) High-sensitivity C-reactive protein, other markers of inflammation, and the incidence of macular degeneration in women.

external link
48.

Chakravarthy U et al. (2007) Cigarette smoking and age-related macular degeneration in the EUREYE Study.

external link
49.

Boekhoorn SS et al. (2007) Estrogen receptor alpha gene polymorphisms associated with incident aging macula disorder.

external link
50.

Kenealy SJ et al. (2004) Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26.

external link
51.

Fritsche LG et al. (2013) Seven new loci associated with age-related macular degeneration.

external link
52.

Ho L et al. (2011) Reducing the genetic risk of age-related macular degeneration with dietary antioxidants, zinc, and ω-3 fatty acids: the Rotterdam study.

external link
53.

Francis PJ et al. (2008) Rhesus monkeys and humans share common susceptibility genes for age-related macular disease.

external link
54.

Fritsche LG et al. (2008) Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA.

external link
55.

Kanda A et al. (2007) A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.

external link
56.

Schaumberg DA et al. (2007) A prospective study of 2 major age-related macular degeneration susceptibility alleles and interactions with modifiable risk factors.

external link
57.

Dewan A et al. (2006) HTRA1 promoter polymorphism in wet age-related macular degeneration.

external link
58.

Conley YP et al. (2006) CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses.

external link
59.

Schmidt S et al. (2006) Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.

external link
60.

Rivera A et al. (2005) Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.

external link
61.

Fisher SA et al. (2005) Meta-analysis of genome scans of age-related macular degeneration.

external link
62.

Hahn P et al. (2003) Maculas affected by age-related macular degeneration contain increased chelatable iron in the retinal pigment epithelium and Bruch's membrane.

external link
63.

Bhattacharjee A et al. (2003) Slick (Slo2.1), a rapidly-gating sodium-activated potassium channel inhibited by ATP.

external link
64.

Jakobsdottir J et al. (2005) Susceptibility genes for age-related maculopathy on chromosome 10q26.

external link
65.

Weeks DE et al. (2004) Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions.

external link
66.

Seddon JM et al. (2003) A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions.

external link
67.

Majewski J et al. (2003) Age-related macular degeneration--a genome scan in extended families.

external link
68.

Tarallo V et al. (2012) DICER1 loss and Alu RNA induce age-related macular degeneration via the NLRP3 inflammasome and MyD88.

external link
69.

Doyle SL et al. (2012) NLRP3 has a protective role in age-related macular degeneration through the induction of IL-18 by drusen components.

external link
70.

Seddon JM et al. (2005) Progression of age-related macular degeneration: prospective assessment of C-reactive protein, interleukin 6, and other cardiovascular biomarkers.

external link
71.

Lambooij AC et al. (2003) Insulin-like growth factor-I and its receptor in neovascular age-related macular degeneration.

external link
72.

Goverdhan SV et al. (2005) Association of HLA class I and class II polymorphisms with age-related macular degeneration.

external link
73.

Maller J et al. (2006) Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.

external link
74.

None (1966) Dystrophy of the macula.

external link
75.

Heckenlively JR et al. (2003) Mouse model of subretinal neovascularization with choroidal anastomosis.

external link
76.

Danciger M et al. (2003) A strong and highly significant QTL on chromosome 6 that protects the mouse from age-related retinal degeneration.

external link
77.

Klein R et al. (2003) Association of emphysema, gout, and inflammatory markers with long-term incidence of age-related maculopathy.

external link
78.

Phipps JA et al. (2003) Loss of cone function in age-related maculopathy.

external link
79.

Borrillo JL et al. (2003) Surgical ablation of retinal angiomatous proliferation.

external link
80.

Jonasson F et al. (2003) The prevalence of age-related maculopathy in iceland: Reykjavik eye study.

external link
81.

Cousins SW et al. (2003) Female gender, estrogen loss, and Sub-RPE deposit formation in aged mice.

external link
82.

Malek G et al. (2003) Apolipoprotein B in cholesterol-containing drusen and basal deposits of human eyes with age-related maculopathy.

external link
83.

None (2002) New insights and new approaches toward the study of age-related macular degeneration.

external link
84.

Crabb JW et al. (2002) Drusen proteome analysis: an approach to the etiology of age-related macular degeneration.

external link
85.

None (2002) Retinal angiomatous proliferation in age-related macular degeneration.

external link
86.

Krzystolik MG et al. (2002) Prevention of experimental choroidal neovascularization with intravitreal anti-vascular endothelial growth factor antibody fragment.

external link
87.

Dithmar S et al. (2001) Murine high-fat diet and laser photochemical model of basal deposits in Bruch membrane.

external link
88.

Weeks DE et al. (2001) Age-related maculopathy: an expanded genome-wide scan with evidence of susceptibility loci within the 1q31 and 17q25 regions.

external link
89.

Yannuzzi LA et al. (2001) Retinal angiomatous proliferation in age-related macular degeneration.

external link
90.

Beatty S et al. () The role of oxidative stress in the pathogenesis of age-related macular degeneration.

external link
91.

Weeks DE et al. (2000) A full genome scan for age-related maculopathy.

external link
92.

Smith RS et al. (2000) The bst locus on mouse chromosome 16 is associated with age-related subretinal neovascularization.

external link
93.

Klein ML et al. (1998) Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q.

external link
94.

Allikmets R et al. (1997) Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

external link
95.

Seddon JM et al. (1997) Familial aggregation of age-related maculopathy.

external link
96.

Heiba IM et al. (1994) Sibling correlations and segregation analysis of age-related maculopathy: the Beaver Dam Eye Study.

external link
97.

Malek G et al. (2005) Apolipoprotein E allele-dependent pathogenesis: a model for age-related retinal degeneration.

external link
98.

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Update: 14. August 2020
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