Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Vaskuläre Demenz

Die Neigung zur vaskulären Demenz ist zum Teil auch durch genetische Faktoren mitbedingt.

Gliederung

Erbliche Nervenerkrankungen
Alzheimer Erkrankung
Arts-Syndrom
Autismus
Autosomal dominante zerebelläre Ataxie mit Schwerhörigkeit und Narkolepsie
Autosomal rezessive spastische Paraplegie 44
Brunner-Syndrom
Charcot-Marie-Tooth-Hoffmann-Krankheit
Erbliche Erkrankungen der Muskeln
Gliom-Neigung
Hereditäre benigne Chorea
Hereditäre distale Motorneuronen-Neuropathie Typ 5A
Hereditäre sensorisch-autonome Neuropathie Typ 2A
Hereditäre sensorische Neuropathie Typ 1E
Hirnmalformation mit Urogenitaldefekten
Hypokalämische periodische Paralyse 1
Hypomyelinisierte Leukodystrophy 2
Idiopathische Kalzifikation der Basalganglien 1
Kongenitale Schmerzunempfindlichkeit mit Anhidrose
Migräne
Nemaline-Myopathy 5
Neonatale Enzephalopathie mit Mikrozephalie
Porenzephalie
Rett-Syndrom
Spastische Paraplegie 17 mit Amyotrophie der Hände und Füße
Syndrom der Intelligenzminderung mit stark verzögerter Sprachentwicklung und milden Dysmorphien
Vaskuläre Demenz
TNF
X-chromosomale syndromale mentale Retardierung 13
Zerebrale Mikroangiopathie mit Blutung

Referenzen:

1.

Szalai C et. al. (2002) Association of polymorphisms and allelic combinations in the tumour necrosis factor-alpha-complement MHC region with coronary artery disease.

[^]
2.

Buranawuti K et. al. (2007) Variants in mannose-binding lectin and tumour necrosis factor alpha affect survival in cystic fibrosis.

[^]
3.

Wilson AG et. al. (1992) Single base polymorphism in the human tumour necrosis factor alpha (TNF alpha) gene detectable by NcoI restriction of PCR product.

[^]
4.

Barnes PF et. al. (1990) Local production of tumor necrosis factor and IFN-gamma in tuberculous pleuritis.

[^]
5.

None (1985) Tumor necrosis factor (TNF).

[^]
6.

Brenner DA et. al. (1989) Prolonged activation of jun and collagenase genes by tumour necrosis factor-alpha.

[^]
7.

Carroll MC et. al. (1987) Linkage map of the human major histocompatibility complex including the tumor necrosis factor genes.

[^]
8.

Nedwin GE et. al. (1985) Human lymphotoxin and tumor necrosis factor genes: structure, homology and chromosomal localization.

[^]
9.

Aggarwal BB et. al. () Characterization of receptors for human tumour necrosis factor and their regulation by gamma-interferon.

[^]
10.

Müller U et. al. () Tumour necrosis factor and lymphotoxin genes map close to H-2D in the mouse major histocompatibility complex.

[^]
11.

Ragoussis J et. al. (1988) Localization of the genes for tumor necrosis factor and lymphotoxin between the HLA class I and III regions by field inversion gel electrophoresis.

[^]
12.

Spies T et. al. (1986) Genes for the tumor necrosis factors alpha and beta are linked to the human major histocompatibility complex.

[^]
13.

Inoko H et. al. (1987) Linkage of TNF genes to the HLA-B locus.

[^]
14.

Broudy VC et. al. (1986) Tumor necrosis factor type alpha stimulates human endothelial cells to produce granulocyte/macrophage colony-stimulating factor.

[^]
15.

Nedospasov SA et. al. (1986) The genes for tumor necrosis factor (TNF-alpha) and lymphotoxin (TNF-beta) are tandemly arranged on chromosome 17 of the mouse.

[^]
16.

Davis JM et. al. (1987) Structure of human tumor necrosis factor alpha derived from recombinant DNA.

[^]
17.

Beutler B et. al. (1986) Control of cachectin (tumor necrosis factor) synthesis: mechanisms of endotoxin resistance.

[^]
18.

Wang AM et. al. (1985) Molecular cloning of the complementary DNA for human tumor necrosis factor.

[^]
19.

Shirai T et. al. () Cloning and expression in Escherichia coli of the gene for human tumour necrosis factor.

[^]
20.

Pennica D et. al. () Human tumour necrosis factor: precursor structure, expression and homology to lymphotoxin.

[^]
21.

Flynn JL et. al. (1995) Tumor necrosis factor-alpha is required in the protective immune response against Mycobacterium tuberculosis in mice.

[^]
22.

Galbraith GM et. al. (1995) Tumor necrosis factor alpha (TNF-alpha) gene polymorphism in alopecia areata.

[^]
23.

Cabrera M et. al. (1995) Polymorphism in tumor necrosis factor genes associated with mucocutaneous leishmaniasis.

[^]
24.

Norman RA et. al. (1995) Linkage between obesity and a marker near the tumor necrosis factor-alpha locus in Pima Indians.

[^]
25.

D'Alfonso S et. al. (1994) A polymorphic variation in a putative regulation box of the TNFA promoter region.

[^]
26.

McGuire W et. al. (1994) Variation in the TNF-alpha promoter region associated with susceptibility to cerebral malaria.

[^]
27.

Cox A et. al. (1994) Comparative analysis of the genetic associations of HLA-DR3 and tumour necrosis factor alpha with human IDDM.

[^]
28.

Van Ostade X et. al. (1993) Human TNF mutants with selective activity on the p55 receptor.

[^]
29.

Spielman RS et. al. (1993) Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM).

[^]
30.

Obeid LM et. al. (1993) Programmed cell death induced by ceramide.

[^]
31.

Bruce AJ et. al. (1996) Altered neuronal and microglial responses to excitotoxic and ischemic brain injury in mice lacking TNF receptors.

[^]
32.

Mulcahy B et. al. (1996) Genetic variability in the tumor necrosis factor-lymphotoxin region influences susceptibility to rheumatoid arthritis.

[^]
33.

Nadel S et. al. (1996) Variation in the tumor necrosis factor-alpha gene promoter region may be associated with death from meningococcal disease.

[^]
34.

van Hensbroek MB et. al. (1996) The effect of a monoclonal antibody to tumor necrosis factor on survival from childhood cerebral malaria.

[^]
35.

Black RA et. al. (1997) A metalloproteinase disintegrin that releases tumour-necrosis factor-alpha from cells.

[^]
36.

Conway DJ et. al. (1997) Scarring trachoma is associated with polymorphism in the tumor necrosis factor alpha (TNF-alpha) gene promoter and with elevated TNF-alpha levels in tear fluid.

[^]
37.

Wilson AG et. al. (1997) Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation.

[^]
38.

Moffatt MF et. al. (1997) Tumour necrosis factor haplotypes and asthma.

[^]
39.

Marino MW et. al. (1997) Characterization of tumor necrosis factor-deficient mice.

[^]
40.

Roy S et. al. (1997) Tumor necrosis factor promoter polymorphism and susceptibility to lepromatous leprosy.

[^]
41.

Uysal KT et. al. (1997) Protection from obesity-induced insulin resistance in mice lacking TNF-alpha function.

[^]
42.

Herrmann SM et. al. (1998) Polymorphisms of the tumour necrosis factor-alpha gene, coronary heart disease and obesity.

[^]
43.

Ma JJ et. al. (1998) Genetic contribution of the tumor necrosis factor region in Guillain-Barré syndrome.

[^]
44.

Zinman B et. al. (1999) Circulating tumor necrosis factor-alpha concentrations in a native Canadian population with high rates of type 2 diabetes mellitus.

[^]
45.

Bonifati C et. al. (1999) Cytokines in psoriasis.

[^]
46.

Knight JC et. al. (1999) A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with severe malaria.

[^]
47.

Skoog T et. al. (1999) A common functional polymorphism (C-->A substitution at position -863) in the promoter region of the tumour necrosis factor-alpha (TNF-alpha) gene associated with reduced circulating levels of TNF-alpha.

[^]
48.

Ruuls SR et. al. (1999) Unlinking tumor necrosis factor biology from the major histocompatibility complex: lessons from human genetics and animal models.

[^]
49.

None () The immunogenetics of resistance to malaria.

[^]
50.

Franchimont D et. al. (1999) Tumor necrosis factor alpha decreases, and interleukin-10 increases, the sensitivity of human monocytes to dexamethasone: potential regulation of the glucocorticoid receptor.

[^]
51.

Mira JP et. al. (1999) Association of TNF2, a TNF-alpha promoter polymorphism, with septic shock susceptibility and mortality: a multicenter study.

[^]
52.

Rasmussen SK et. al. (2000) The -238 and -308 G-->A polymorphisms of the tumor necrosis factor alpha gene promoter are not associated with features of the insulin resistance syndrome or altered birth weight in Danish Caucasians.

[^]
53.

Obayashi H et. al. (2000) Tumor necrosis factor microsatellite polymorphism influences the development of insulin dependency in adult-onset diabetes patients with the DRB1*1502-DQB1*0601 allele and anti-glutamic acid decarboxylase antibodies.

[^]
54.

Winchester EC et. al. (2000) Association of the TNF-alpha-308 (G-->A) polymorphism with self-reported history of childhood asthma.

[^]
55.

Ota N et. al. (2000) Linkage of human tumor necrosis factor-alpha to human osteoporosis by sib pair analysis.

[^]
56.

Koss K et. al. (2000) Cytokine (TNF alpha, LT alpha and IL-10) polymorphisms in inflammatory bowel diseases and normal controls: differential effects on production and allele frequencies.

[^]
57.

Moraes MO et. al. (2001) Tumor necrosis factor-alpha promoter polymorphism TNF2 is associated with a stronger delayed-type hypersensitivity reaction in the skin of borderline tuberculoid leprosy patients.

[^]
58.

McCusker SM et. al. (2001) Association between polymorphism in regulatory region of gene encoding tumour necrosis factor alpha and risk of Alzheimer's disease and vascular dementia: a case-control study.

[^]
59.

Rosmond R et. al. (2001) G-308A polymorphism of the tumor necrosis factor alpha gene promoter and salivary cortisol secretion.

[^]
60.

Escobar-Morreale HF et. al. (2001) TNF-alpha and hyperandrogenism: a clinical, biochemical, and molecular genetic study.

[^]
61.

Quasney MW et. al. (2001) Increased frequency of the tumor necrosis factor-alpha-308 A allele in adults with human immunodeficiency virus dementia.

[^]
62.

Keane J et. al. (2001) Tuberculosis associated with infliximab, a tumor necrosis factor alpha-neutralizing agent.

[^]
63.

Witte JS et. al. (2002) Relation between tumour necrosis factor polymorphism TNFalpha-308 and risk of asthma.

[^]
64.

Beattie EC et. al. (2002) Control of synaptic strength by glial TNFalpha.

[^]
65.

Roach DR et. al. (2002) TNF regulates chemokine induction essential for cell recruitment, granuloma formation, and clearance of mycobacterial infection.

[^]
66.

Gorman JD et. al. (2002) Treatment of ankylosing spondylitis by inhibition of tumor necrosis factor alpha.

[^]
67.

van Heel DA et. al. (2002) Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors.

[^]
68.

de Groof F et. al. (2002) Acute stress response in children with meningococcal sepsis: important differences in the growth hormone/insulin-like growth factor I axis between nonsurvivors and survivors.

[^]
69.

Janssen R et. al. (2002) Divergent role for TNF-alpha in IFN-gamma-induced killing of Toxoplasma gondii and Salmonella typhimurium contributes to selective susceptibility of patients with partial IFN-gamma receptor 1 deficiency.

[^]
70.

Krikovszky D et. al. (2002) Association between G-308A polymorphism of the tumor necrosis factor-alpha gene and 24-hour ambulatory blood pressure values in type 1 diabetic adolescents.

[^]
71.

García-Ruiz C et. al. (2003) Defective TNF-alpha-mediated hepatocellular apoptosis and liver damage in acidic sphingomyelinase knockout mice.

[^]
72.

Flori L et. al. (2003) Linkage of mild malaria to the major histocompatibility complex in families living in Burkina Faso.

[^]
73.

Takahashi JL et. al. (2003) Interleukin-1beta promotes oligodendrocyte death through glutamate excitotoxicity.

[^]
74.

Balding J et. al. (2003) Cytokine gene polymorphisms: association with psoriatic arthritis susceptibility and severity.

[^]
75.

Shbaklo H et. al. (2003) No association between the -1031 polymorphism in the TNF-alpha promoter region and type 1 diabetes.

[^]
76.

Li H et. al. (2003) A combination of human leukocyte antigen DQB1*02 and the tumor necrosis factor alpha promoter G308A polymorphism predisposes to an insulin-deficient phenotype in patients with type 2 diabetes.

[^]
77.

Kim YJ et. al. (2003) Association of TNF-alpha promoter polymorphisms with the clearance of hepatitis B virus infection.

[^]
78.

Steed PM et. al. (2003) Inactivation of TNF signaling by rationally designed dominant-negative TNF variants.

[^]
79.

Leonardi CL et. al. (2003) Etanercept as monotherapy in patients with psoriasis.

[^]
80.

Shin HD et. al. (2004) Association of tumor necrosis factor polymorphisms with asthma and serum total IgE.

[^]
81.

Diwan A et. al. (2004) Targeted overexpression of noncleavable and secreted forms of tumor necrosis factor provokes disparate cardiac phenotypes.

[^]
82.

Rainero I et. al. (2004) Association between the tumor necrosis factor-alpha -308 G/A gene polymorphism and migraine.

[^]
83.

Bouwmeester T et. al. (2004) A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway.

[^]
84.

Boyman O et. al. (2004) Spontaneous development of psoriasis in a new animal model shows an essential role for resident T cells and tumor necrosis factor-alpha.

[^]
85.

Allcock RJ et. al. (2004) High-Density SNP genotyping defines 17 distinct haplotypes of the TNF block in the Caucasian population: implications for haplotype tagging.

[^]
86.

Funayama T et. al. (2004) Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma.

[^]
87.

Kamata H et. al. (2005) Reactive oxygen species promote TNFalpha-induced death and sustained JNK activation by inhibiting MAP kinase phosphatases.

[^]
88.

Vielhauer V et. al. (2005) Renal cell-expressed TNF receptor 2, not receptor 1, is essential for the development of glomerulonephritis.

[^]
89.

Balosso S et. al. (2005) Tumor necrosis factor-alpha inhibits seizures in mice via p75 receptors.

[^]
90.

Kim JY et. al. (2005) Identification of regulatory polymorphisms in the TNF-TNF receptor superfamily.

[^]
91.

Laws SM et. al. (2005) TNF polymorphisms in Alzheimer disease and functional implications on CSF beta-amyloid levels.

[^]
92.

Fowler EV et. al. (2005) TNFalpha and IL10 SNPs act together to predict disease behaviour in Crohn's disease.

[^]
93.

Stein CM et. al. (2005) Evidence for a major gene influence on tumor necrosis factor-alpha expression in tuberculosis: path and segregation analysis.

[^]
94.

Murray RZ et. al. (2005) A role for the phagosome in cytokine secretion.

[^]
95.

Lee YH et. al. (2006) Meta-analysis of TNF-alpha promoter -308 A/G polymorphism and SLE susceptibility.

[^]
96.

Stellwagen D et. al. (2006) Synaptic scaling mediated by glial TNF-alpha.

[^]
97.

El-Shabrawi Y et. al. (2006) Polymorphisms within the tumor necrosis factor-alpha promoter region in patients with HLA-B27-associated uveitis: association with susceptibility and clinical manifestations.

[^]
98.

Aoki T et. al. (2006) An association between asthma and TNF-308G/A polymorphism: meta-analysis.

[^]
99.

Ramos EM et. al. (2006) Tumor necrosis factor alpha and interleukin 10 promoter region polymorphisms and risk of late-onset Alzheimer disease.

[^]
100.

Hase H et. al. (2006) TNFalpha mediates the skeletal effects of thyroid-stimulating hormone.

[^]
101.

Kawane K et. al. (2006) Chronic polyarthritis caused by mammalian DNA that escapes from degradation in macrophages.

[^]
102.

Nadkarni S et. al. (2007) Anti-TNF-alpha therapy induces a distinct regulatory T cell population in patients with rheumatoid arthritis via TGF-beta.

[^]
103.

Soller JT et. al. (2007) Comparison of the human and canine cytokines IL-1(alpha/beta) and TNF-alpha to orthologous other mammalians.

[^]
104.

Lieu ZZ et. al. (2008) A trans-Golgi network golgin is required for the regulated secretion of TNF in activated macrophages in vivo.

[^]
105.

Li X et. al. (2008) A tumor necrosis factor-alpha-mediated pathway promoting autosomal dominant polycystic kidney disease.

[^]
106.

Guo R et. al. (2008) Ubiquitin ligase Smurf1 mediates tumor necrosis factor-induced systemic bone loss by promoting proteasomal degradation of bone morphogenetic signaling proteins.

[^]
107.

Tay S et. al. (2010) Single-cell NF-kappaB dynamics reveal digital activation and analogue information processing.

[^]
108.

Feldmann M et. al. (2010) Anti-TNF therapy, from rationale to standard of care: what lessons has it taught us?

[^]
109.

Huang MT et. al. (2010) Deletion of ripA alleviates suppression of the inflammasome and MAPK by Francisella tularensis.

[^]
110.

Günther C et. al. (2011) Caspase-8 regulates TNF-α-induced epithelial necroptosis and terminal ileitis.

[^]
111.

Braumüller H et. al. (2013) T-helper-1-cell cytokines drive cancer into senescence.

[^]
112.

Li Z et. al. (2014) The long noncoding RNA THRIL regulates TNFα expression through its interaction with hnRNPL.

[^]
Update: 26. September 2018

 

Die Seite verwendet Cookies, um Ihnen den bestmöglichen Service zu gewährleisten. Bitte bestätigen Sie uns kurz per Klick, dass Sie mit der Nutzung von Cookies einverstanden sind: