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Spleissstellenmutationen und Atherosklerose: Mechanismen und Modelle der Prädiktion

Standard

Spleissstellenmutationen und Atherosklerose: Mechanismen und Modelle der Prädiktion. / von Kodolitsch, Y; Nienaber, C A; Fliegner, M; Rogan, P K.

In: Z Kardiol, Vol. 90, No. 2, 02.2001, p. 87-95.

Research output: SCORING: Contribution to journal › SCORING: Review article › Research

Harvard

von Kodolitsch, Y, Nienaber, CA, Fliegner, M & Rogan, PK 2001, 'Spleissstellenmutationen und Atherosklerose: Mechanismen und Modelle der Prädiktion', Z Kardiol, vol. 90, no. 2, pp. 87-95. https://doi.org/10.1007/s003920170193

APA

von Kodolitsch, Y., Nienaber, C. A., Fliegner, M., & Rogan, P. K. (2001). Spleissstellenmutationen und Atherosklerose: Mechanismen und Modelle der Prädiktion. Z Kardiol, 90(2), 87-95. https://doi.org/10.1007/s003920170193

Vancouver

von Kodolitsch Y, Nienaber CA, Fliegner M, Rogan PK. Spleissstellenmutationen und Atherosklerose: Mechanismen und Modelle der Prädiktion. Z Kardiol. 2001 Feb;90(2):87-95. https://doi.org/10.1007/s003920170193

Bibtex

@article{addc94a8f2b24e2181d6a96fcbae0489,
title = "Spleissstellenmutationen und Atherosklerose: Mechanismen und Modelle der Pr{\"a}diktion",
abstract = "Nucleotide variants in genes of the lipid metabolism influence the risk of premature atherosclerosis. Ten percent of all single nucleotide substitutions in these genes involve splice sites. The effects of these changes on mRNA splicing and phenotypic severity, however, are not inherently obvious from the nucleotide sequence. This review presents various genes of lipid metabolism with splicing mutations known to influence the risk of premature atherosclerosis. Mechanisms of pre-mRNA splicing are illustrated and different models for prediction of the effect of nucleotide substitutions on splice-site function are presented. The role of information theory-based models is emphasized along with its role for prediction of splice-site function and phenotypic severity of atherosclerosis.",
keywords = "Age Factors, Alternative Splicing, Animals, Arteriosclerosis/etiology, Drosophila/genetics, Exons/genetics, Female, Humans, Hyperlipidemias/complications, Hyperlipoproteinemia Type II/genetics, Information Theory, Lipids/blood, Male, Middle Aged, Models, Genetic, Mutation, Phenotype, Prognosis, RNA/genetics, RNA Precursors/genetics, RNA Splicing/genetics, RNA, Messenger/genetics, Risk Factors, Transcription, Genetic",
author = "{von Kodolitsch}, Y and Nienaber, {C A} and M Fliegner and Rogan, {P K}",
year = "2001",
month = feb,
doi = "10.1007/s003920170193",
language = "Deutsch",
volume = "90",
pages = "87--95",
number = "2",

}

RIS

TY - JOUR

T1 - Spleissstellenmutationen und Atherosklerose: Mechanismen und Modelle der Prädiktion

AU - von Kodolitsch, Y

AU - Nienaber, C A

AU - Fliegner, M

AU - Rogan, P K

PY - 2001/2

Y1 - 2001/2

N2 - Nucleotide variants in genes of the lipid metabolism influence the risk of premature atherosclerosis. Ten percent of all single nucleotide substitutions in these genes involve splice sites. The effects of these changes on mRNA splicing and phenotypic severity, however, are not inherently obvious from the nucleotide sequence. This review presents various genes of lipid metabolism with splicing mutations known to influence the risk of premature atherosclerosis. Mechanisms of pre-mRNA splicing are illustrated and different models for prediction of the effect of nucleotide substitutions on splice-site function are presented. The role of information theory-based models is emphasized along with its role for prediction of splice-site function and phenotypic severity of atherosclerosis.

AB - Nucleotide variants in genes of the lipid metabolism influence the risk of premature atherosclerosis. Ten percent of all single nucleotide substitutions in these genes involve splice sites. The effects of these changes on mRNA splicing and phenotypic severity, however, are not inherently obvious from the nucleotide sequence. This review presents various genes of lipid metabolism with splicing mutations known to influence the risk of premature atherosclerosis. Mechanisms of pre-mRNA splicing are illustrated and different models for prediction of the effect of nucleotide substitutions on splice-site function are presented. The role of information theory-based models is emphasized along with its role for prediction of splice-site function and phenotypic severity of atherosclerosis.

KW - Age Factors

KW - Alternative Splicing

KW - Animals

KW - Arteriosclerosis/etiology

KW - Drosophila/genetics

KW - Exons/genetics

KW - Female

KW - Humans

KW - Hyperlipidemias/complications

KW - Hyperlipoproteinemia Type II/genetics

KW - Information Theory

KW - Lipids/blood

KW - Male

KW - Middle Aged

KW - Models, Genetic

KW - Mutation

KW - Phenotype

KW - Prognosis

KW - RNA/genetics

KW - RNA Precursors/genetics

KW - RNA Splicing/genetics

KW - RNA, Messenger/genetics

KW - Risk Factors

KW - Transcription, Genetic

U2 - 10.1007/s003920170193

DO - 10.1007/s003920170193

M3 - SCORING: Review

C2 - 11263007

VL - 90

SP - 87

EP - 95

IS - 2

ER -