FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1543418979> ?p ?o ?g. }

• W1543418979 abstract "Genetic mutations are becoming more deleterious day by day. Mutations of Genes named FBN1, AKT1, LMNA result specific protein malfunction that in turn commonly cause Marfan syndrome, Proteus syndrome, and Progeria, respectively. Articles about these conditions have been reviewed in PubMed and Google scholar with a view to finding relevant clinical features. Precise keywords have been used in search for systemic involvement of FBN1, AKT1, and LMNA gene mutations. It has been found that Marfan syndrome, Proteus syndrome, and Progeria commonly affected musculo-skeletal system, cardiovascular system, eye, and nervous system. Not only all of them shared identical systemic involvement, but also caused several very specific anomalies in various parts of the body. In spite of having some individual signs and symptoms, the mutual manifestations were worth mentioning. Moreover, all the features of the mutations of all three responsible genes had been co-related and systemically mentioned in this review. There can be some mutual properties of the genes FBN1, AKT1, and LMNA or in their corresponding proteins that result in the same presentations. This study may progress vision of knowledge regarding risk factors, patho-physiology, and management of these conditions, and relation to other mutations." @default.
• W1543418979 created "2016-06-24" @default.
• W1543418979 creator A5077798117 @default.
• W1543418979 date "2015-03-19" @default.
• W1543418979 modified "2023-09-26" @default.
• W1543418979 title "Mutation in Genes FBN1, AKT1, and LMNA: Marfan Syndrome, Proteus Syndrome, and Progeria Share Common Systemic Involvement" @default.
• W1543418979 cites W133688652 @default.
• W1543418979 cites W145701564 @default.
• W1543418979 cites W1561778054 @default.
• W1543418979 cites W1566331449 @default.
• W1543418979 cites W1891037876 @default.
• W1543418979 cites W1963912235 @default.
• W1543418979 cites W1964712615 @default.
• W1543418979 cites W1965361623 @default.
• W1543418979 cites W1966277161 @default.
• W1543418979 cites W1968920418 @default.
• W1543418979 cites W1969250547 @default.
• W1543418979 cites W1970328743 @default.
• W1543418979 cites W1975228867 @default.
• W1543418979 cites W1975569628 @default.
• W1543418979 cites W1975927363 @default.
• W1543418979 cites W1979373450 @default.
• W1543418979 cites W1983732573 @default.
• W1543418979 cites W1984282933 @default.
• W1543418979 cites W1987519999 @default.
• W1543418979 cites W1987891430 @default.
• W1543418979 cites W1988244271 @default.
• W1543418979 cites W1988335766 @default.
• W1543418979 cites W1990962061 @default.
• W1543418979 cites W1993166172 @default.
• W1543418979 cites W1994575781 @default.
• W1543418979 cites W1998713552 @default.
• W1543418979 cites W1999932869 @default.
• W1543418979 cites W2002886248 @default.
• W1543418979 cites W2003406618 @default.
• W1543418979 cites W2006148253 @default.
• W1543418979 cites W2006924954 @default.
• W1543418979 cites W2012957486 @default.
• W1543418979 cites W2014867326 @default.
• W1543418979 cites W2023569444 @default.
• W1543418979 cites W2023759757 @default.
• W1543418979 cites W2027284603 @default.
• W1543418979 cites W2028143715 @default.
• W1543418979 cites W2032595730 @default.
• W1543418979 cites W2035769766 @default.
• W1543418979 cites W2037466055 @default.
• W1543418979 cites W2045215451 @default.
• W1543418979 cites W2045791858 @default.
• W1543418979 cites W2046650956 @default.
• W1543418979 cites W2047444297 @default.
• W1543418979 cites W2059695486 @default.
• W1543418979 cites W2061360035 @default.
• W1543418979 cites W2062210712 @default.
• W1543418979 cites W2063816661 @default.
• W1543418979 cites W2068359353 @default.
• W1543418979 cites W2068654281 @default.
• W1543418979 cites W2068812442 @default.
• W1543418979 cites W2070572605 @default.
• W1543418979 cites W2071407034 @default.
• W1543418979 cites W2073460054 @default.
• W1543418979 cites W2074146886 @default.
• W1543418979 cites W2075193667 @default.
• W1543418979 cites W2079448565 @default.
• W1543418979 cites W2086979102 @default.
• W1543418979 cites W2091807839 @default.
• W1543418979 cites W2092619648 @default.
• W1543418979 cites W2094646896 @default.
• W1543418979 cites W2094806530 @default.
• W1543418979 cites W2097470178 @default.
• W1543418979 cites W2097555073 @default.
• W1543418979 cites W2098708820 @default.
• W1543418979 cites W2100050598 @default.
• W1543418979 cites W2105980425 @default.
• W1543418979 cites W2112668512 @default.
• W1543418979 cites W2114127952 @default.
• W1543418979 cites W2116793650 @default.
• W1543418979 cites W2117821616 @default.
• W1543418979 cites W2118062424 @default.
• W1543418979 cites W2123299380 @default.
• W1543418979 cites W2127608128 @default.
• W1543418979 cites W2128168840 @default.
• W1543418979 cites W2128353741 @default.
• W1543418979 cites W2128865876 @default.
• W1543418979 cites W2134232338 @default.
• W1543418979 cites W2135662698 @default.
• W1543418979 cites W2138625957 @default.
• W1543418979 cites W2140583029 @default.
• W1543418979 cites W2143325704 @default.
• W1543418979 cites W2144628055 @default.
• W1543418979 cites W2144890804 @default.
• W1543418979 cites W2145323835 @default.
• W1543418979 cites W2145569694 @default.
• W1543418979 cites W2149195137 @default.
• W1543418979 cites W2157768843 @default.
• W1543418979 cites W2159234812 @default.
• W1543418979 cites W2161564366 @default.
• W1543418979 cites W2162903272 @default.
• W1543418979 cites W2165473341 @default.
• W1543418979 cites W2165510732 @default.
• W1543418979 cites W2167790003 @default.

• next