FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2046123790> ?p ?o ?g. }

• W2046123790 endingPage "19" @default.
• W2046123790 startingPage "10" @default.
• W2046123790 abstract "Congenital heart disease (CHD) is a major cause of childhood morbidity and death in the West; the incidence is approximately 1 in 145 live births. Mendelian and chromosomal syndromes account for approximately 20% of CHD. The genetic mechanisms underlying non‐chromosomal or non‐Mendelian “sporadic” CHD, which account for the remaining 80%, are poorly understood. The genetic architecture of sporadic CHD likely includes accumulation of rare nonsynonymous variants in cardiac developmental genes leading to mutational loading of cardiac developmental networks, copy number variation in cardiac developmental genes, and common variants that may not be obviously linked to cardiac development but may alter genetic buffering pathways (e.g., folate metabolism). The rare mutations typically associated with sporadic CHD likely arise from the severe decrease in reproductive fitness selecting against any CHD‐causing gene variant. The resulting allelic heterogeneity reduces the power of genome‐wide association studies for CHD. A complementary approach to the genetic analysis of CHD is to resequence candidate genes that have been shown to be necessary for mouse heart development. The number of such genes likely exceeds 1700. To identify these genes, we have developed an enabling technology (high‐throughput magnetic resonance imaging of mouse embryos), which is used in combination with N ‐ethyl‐ N ‐nitrosourea/transposon mutagenesis and knockout techniques. Key future challenges now involve translating discoveries made in mouse models to human CHD genetics and understanding the mechanisms that create and disrupt genetic buffering. A long‐term goal in CHD is to manipulate these pathways to enhance buffering and prevent disease in a manner analogous to the use of folate in preventing neural tube defects." @default.
• W2046123790 created "2016-06-24" @default.
• W2046123790 creator A5025576658 @default.
• W2046123790 creator A5086721731 @default.
• W2046123790 date "2008-03-01" @default.
• W2046123790 modified "2023-10-13" @default.
• W2046123790 title "Genetic Mechanisms Controlling Cardiovascular Development" @default.
• W2046123790 cites W1481913624 @default.
• W2046123790 cites W1501608538 @default.
• W2046123790 cites W1506409704 @default.
• W2046123790 cites W1532872348 @default.
• W2046123790 cites W1538090902 @default.
• W2046123790 cites W1590222977 @default.
• W2046123790 cites W1944778414 @default.
• W2046123790 cites W1961367983 @default.
• W2046123790 cites W1964226556 @default.
• W2046123790 cites W1964545485 @default.
• W2046123790 cites W1966383348 @default.
• W2046123790 cites W1972952083 @default.
• W2046123790 cites W1973431915 @default.
• W2046123790 cites W1973986067 @default.
• W2046123790 cites W1975027824 @default.
• W2046123790 cites W1975428685 @default.
• W2046123790 cites W1975931018 @default.
• W2046123790 cites W1980700717 @default.
• W2046123790 cites W1982113849 @default.
• W2046123790 cites W1984197569 @default.
• W2046123790 cites W1988173672 @default.
• W2046123790 cites W1988757053 @default.
• W2046123790 cites W1988825409 @default.
• W2046123790 cites W1989457690 @default.
• W2046123790 cites W1990240283 @default.
• W2046123790 cites W1992909271 @default.
• W2046123790 cites W1994134406 @default.
• W2046123790 cites W2006731903 @default.
• W2046123790 cites W2012409690 @default.
• W2046123790 cites W2012704122 @default.
• W2046123790 cites W2015849111 @default.
• W2046123790 cites W2017107244 @default.
• W2046123790 cites W2020117837 @default.
• W2046123790 cites W2021805308 @default.
• W2046123790 cites W2022265743 @default.
• W2046123790 cites W2022586696 @default.
• W2046123790 cites W2028077252 @default.
• W2046123790 cites W2031323365 @default.
• W2046123790 cites W2032986583 @default.
• W2046123790 cites W2036299862 @default.
• W2046123790 cites W2037472897 @default.
• W2046123790 cites W2037601306 @default.
• W2046123790 cites W2037665181 @default.
• W2046123790 cites W2040686597 @default.
• W2046123790 cites W2043188635 @default.
• W2046123790 cites W2052815101 @default.
• W2046123790 cites W2052992240 @default.
• W2046123790 cites W2054977633 @default.
• W2046123790 cites W2056615811 @default.
• W2046123790 cites W2057056702 @default.
• W2046123790 cites W2057129148 @default.
• W2046123790 cites W2059855369 @default.
• W2046123790 cites W2060254596 @default.
• W2046123790 cites W2061884629 @default.
• W2046123790 cites W2064818072 @default.
• W2046123790 cites W2064994526 @default.
• W2046123790 cites W2068234941 @default.
• W2046123790 cites W2071510075 @default.
• W2046123790 cites W2072924157 @default.
• W2046123790 cites W2074272859 @default.
• W2046123790 cites W2075347688 @default.
• W2046123790 cites W2075563634 @default.
• W2046123790 cites W2076890216 @default.
• W2046123790 cites W2078128181 @default.
• W2046123790 cites W2078475439 @default.
• W2046123790 cites W2084105838 @default.
• W2046123790 cites W2092609905 @default.
• W2046123790 cites W2092710299 @default.
• W2046123790 cites W2093150312 @default.
• W2046123790 cites W2093881244 @default.
• W2046123790 cites W2095635019 @default.
• W2046123790 cites W2096418253 @default.
• W2046123790 cites W2097275659 @default.
• W2046123790 cites W2097836010 @default.
• W2046123790 cites W2101446132 @default.
• W2046123790 cites W2105902279 @default.
• W2046123790 cites W2106193559 @default.
• W2046123790 cites W2106894766 @default.
• W2046123790 cites W2108285904 @default.
• W2046123790 cites W2109556518 @default.
• W2046123790 cites W2113320287 @default.
• W2046123790 cites W2114570499 @default.
• W2046123790 cites W2117348773 @default.
• W2046123790 cites W2119848173 @default.
• W2046123790 cites W2121246801 @default.
• W2046123790 cites W2123478725 @default.
• W2046123790 cites W2126352334 @default.
• W2046123790 cites W2126372052 @default.
• W2046123790 cites W2127387556 @default.
• W2046123790 cites W2128087375 @default.
• W2046123790 cites W2129559300 @default.

• next