Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Epigenetische Dyslipidämie

Epigenetische Dyslipidämien sind Fettstoffwechselstörungen, bei denen die Ursache in epigenetischen Veränderungen liegen. Diese Veränderungen können sich im Laufe des Lebens ändern und vererbt werden. Es handelt sich dabei vor allem um Methylierungen in regulatorischen Bereichen.

Gliederung

Dyslipidämie
Apolipoprotein-Mangel
Betalipoprotein-Mangel
Epigenetische Dyslipidämie
ABCG1
CPT1A
MIR33B
SREBF1
TNIP1
TNNT1
Hyperalphalipoproteinämie 1
Hyperalphalipoproteinämie 2
Hyperlipämie
Hypoalphalipoproteinämie
Hypobetalipoproteinemie

Referenzen:

1.

Trask B et al. (1993) Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA markers.

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2.

Lloyd DJ et. al. (2002) A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies.

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3.

Nagata R et. al. (2004) Single nucleotide polymorphism (-468 Gly to A) at the promoter region of SREBP-1c associates with genetic defect of fructose-induced hepatic lipogenesis [corrected].

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4.

Lin J et. al. (2005) Hyperlipidemic effects of dietary saturated fats mediated through PGC-1beta coactivation of SREBP.

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5.

Bengoechea-Alonso MT et. al. (2005) Hyperphosphorylation regulates the activity of SREBP1 during mitosis.

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6.

Yang F et. al. (2006) An ARC/Mediator subunit required for SREBP control of cholesterol and lipid homeostasis.

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7.

Taghibiglou C et. al. (2009) Role of NMDA receptor-dependent activation of SREBP1 in excitotoxic and ischemic neuronal injuries.

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8.

Najafi-Shoushtari SH et. al. (2010) MicroRNA-33 and the SREBP host genes cooperate to control cholesterol homeostasis.

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9.

Cui G et. al. (2011) Liver X receptor (LXR) mediates negative regulation of mouse and human Th17 differentiation.

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10.

Han J et. al. (2015) The CREB coactivator CRTC2 controls hepatic lipid metabolism by regulating SREBP1.

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11.

Samson F et. al. (1992) Assignment of the human slow skeletal troponin T gene to 19q13.4 using somatic cell hybrids and fluorescence in situ hybridization analysis.

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12.

Novelli G et. al. (1992) Assignment of the slow troponin T (TNNT1) gene to chromosome 19 using polymerase chain reaction.

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13.

Samson F et. al. (1990) Isolation and localization of a slow troponin (TnT) gene on chromosome 19 by subtraction hybridization of a cDNA muscle library using myotonic dystrophy muscle cDNA.

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14.

Nadal-Ginard B et. al. (1989) Molecular basis of cardiac performance. Plasticity of the myocardium generated through protein isoform switches.

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15.

Samson F et. al. (1994) A new human slow skeletal troponin T (TnTs) mRNA isoform derived from alternative splicing of a single gene.

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16.

Barton PJ et. al. (1999) Close physical linkage of human troponin genes: organization, sequence, and expression of the locus encoding cardiac troponin I and slow skeletal troponin T.

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17.

Johnston JJ et. al. (2000) A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.

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18.

Jin JP et. al. (2003) Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy.

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19.

Wang X et. al. (2005) Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy.

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