The prevailing paradigm for common disease emphasizes the role of common variants predisposing to various rampant health problems, and these genetic risk profiles interact with environmental and life style risk factors triggering the disease process and modifying its progress. However, most of what we know about the molecular background of common diseases is in fact based on what we have learned from rare familial forms of these traits. Further, often the mutations identified in even more rare monogenic diseases sharing some trait components with common diseases have exposed critical new pathways involved in the molecular pathogenesis of common health problems. In this review, we aim to exemplify some of the lessons learned from rare Mendelian forms of diseases that have significantly contributed to our understanding of the genetic background of common diseases and their trait components.
机构:
Univ Texas, SW Med Ctr, Donald W Reynolds Cardiovasc Clin Res Ctr, Dallas, TX 75390 USAUniv Texas, SW Med Ctr, Donald W Reynolds Cardiovasc Clin Res Ctr, Dallas, TX 75390 USA
Cohen, JC
Kiss, RS
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机构:Univ Texas, SW Med Ctr, Donald W Reynolds Cardiovasc Clin Res Ctr, Dallas, TX 75390 USA
Kiss, RS
Pertsemlidis, A
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机构:Univ Texas, SW Med Ctr, Donald W Reynolds Cardiovasc Clin Res Ctr, Dallas, TX 75390 USA
Pertsemlidis, A
Marcel, YL
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机构:Univ Texas, SW Med Ctr, Donald W Reynolds Cardiovasc Clin Res Ctr, Dallas, TX 75390 USA
Marcel, YL
McPherson, R
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机构:Univ Texas, SW Med Ctr, Donald W Reynolds Cardiovasc Clin Res Ctr, Dallas, TX 75390 USA
McPherson, R
Hobbs, HH
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机构:Univ Texas, SW Med Ctr, Donald W Reynolds Cardiovasc Clin Res Ctr, Dallas, TX 75390 USA
机构:
Univ Utah, Dept Psychiat, Neurodev Genet Project, Salt Lake City, UT 84108 USAUniv Utah, Dept Psychiat, Neurodev Genet Project, Salt Lake City, UT 84108 USA
Coon, H
Xin, YP
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机构:Univ Utah, Dept Psychiat, Neurodev Genet Project, Salt Lake City, UT 84108 USA
Xin, YP
Hopkins, PN
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机构:Univ Utah, Dept Psychiat, Neurodev Genet Project, Salt Lake City, UT 84108 USA
Hopkins, PN
Cawthon, RM
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机构:Univ Utah, Dept Psychiat, Neurodev Genet Project, Salt Lake City, UT 84108 USA
Cawthon, RM
Hasstedt, SJ
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机构:Univ Utah, Dept Psychiat, Neurodev Genet Project, Salt Lake City, UT 84108 USA
Hasstedt, SJ
Hunt, SC
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机构:Univ Utah, Dept Psychiat, Neurodev Genet Project, Salt Lake City, UT 84108 USA
机构:
Univ Texas, SW Med Ctr, Donald W Reynolds Cardiovasc Clin Res Ctr, Dallas, TX 75390 USAUniv Texas, SW Med Ctr, Donald W Reynolds Cardiovasc Clin Res Ctr, Dallas, TX 75390 USA
Cohen, JC
Kiss, RS
论文数: 0引用数: 0
h-index: 0
机构:Univ Texas, SW Med Ctr, Donald W Reynolds Cardiovasc Clin Res Ctr, Dallas, TX 75390 USA
Kiss, RS
Pertsemlidis, A
论文数: 0引用数: 0
h-index: 0
机构:Univ Texas, SW Med Ctr, Donald W Reynolds Cardiovasc Clin Res Ctr, Dallas, TX 75390 USA
Pertsemlidis, A
Marcel, YL
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h-index: 0
机构:Univ Texas, SW Med Ctr, Donald W Reynolds Cardiovasc Clin Res Ctr, Dallas, TX 75390 USA
Marcel, YL
McPherson, R
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h-index: 0
机构:Univ Texas, SW Med Ctr, Donald W Reynolds Cardiovasc Clin Res Ctr, Dallas, TX 75390 USA
McPherson, R
Hobbs, HH
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h-index: 0
机构:Univ Texas, SW Med Ctr, Donald W Reynolds Cardiovasc Clin Res Ctr, Dallas, TX 75390 USA
机构:
Univ Utah, Dept Psychiat, Neurodev Genet Project, Salt Lake City, UT 84108 USAUniv Utah, Dept Psychiat, Neurodev Genet Project, Salt Lake City, UT 84108 USA
Coon, H
Xin, YP
论文数: 0引用数: 0
h-index: 0
机构:Univ Utah, Dept Psychiat, Neurodev Genet Project, Salt Lake City, UT 84108 USA
Xin, YP
Hopkins, PN
论文数: 0引用数: 0
h-index: 0
机构:Univ Utah, Dept Psychiat, Neurodev Genet Project, Salt Lake City, UT 84108 USA
Hopkins, PN
Cawthon, RM
论文数: 0引用数: 0
h-index: 0
机构:Univ Utah, Dept Psychiat, Neurodev Genet Project, Salt Lake City, UT 84108 USA
Cawthon, RM
Hasstedt, SJ
论文数: 0引用数: 0
h-index: 0
机构:Univ Utah, Dept Psychiat, Neurodev Genet Project, Salt Lake City, UT 84108 USA
Hasstedt, SJ
Hunt, SC
论文数: 0引用数: 0
h-index: 0
机构:Univ Utah, Dept Psychiat, Neurodev Genet Project, Salt Lake City, UT 84108 USA