Matches in SemOpenAlex for { <https://semopenalex.org/work/W3215087151> ?p ?o ?g. }
- W3215087151 abstract "The term fibrillinopathies gathers various diseases with a wide spectrum of clinical features and severity but all share mutations in the fibrillin genes. The first described fibrillinopathy, Marfan syndrome (MFS), is a multisystem disease with a unique combination of skeletal, thoracic aortic aneurysm (TAA) and ocular features. The numerous FBN1 mutations identified in MFS are located all along the gene, leading to the same pathogenic mechanism. The geleophysic/acromicric dysplasias (GD/AD), characterized by short stature, short extremities, and joint limitation are described as the mirror image of MFS. Previously, in GD/AD patients, we identified heterozygous FBN1 mutations all affecting TGFβ-binding protein-like domain 5 (TB5). ADAMTS10, ADAMTS17 and, ADAMTSL2 are also involved in the pathogenic mechanism of acromelic dysplasia. More recently, in TAA patients, we identified mutations in THSD4, encoding ADAMTSL6, a protein belonging to the ADAMTSL family suggesting that ADAMTSL proteins are also involved in the Marfanoid spectrum. Together with human genetic data and generated knockout mouse models targeting the involved genes, we provide herein an overview of the role of fibrillin-1 in opposite phenotypes. Finally, we will decipher the potential biological cooperation of ADAMTS-fibrillin-1 involved in these opposite phenotypes." @default.
- W3215087151 created "2021-12-06" @default.
- W3215087151 creator A5043127129 @default.
- W3215087151 creator A5055519983 @default.
- W3215087151 creator A5057464877 @default.
- W3215087151 creator A5014678896 @default.
- W3215087151 date "2021-11-29" @default.
- W3215087151 modified "2023-10-18" @default.
- W3215087151 title "Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias" @default.
- W3215087151 cites W1503541616 @default.
- W3215087151 cites W1554260368 @default.
- W3215087151 cites W1832522511 @default.
- W3215087151 cites W1865635829 @default.
- W3215087151 cites W1922955182 @default.
- W3215087151 cites W1966910567 @default.
- W3215087151 cites W1967348039 @default.
- W3215087151 cites W1971165796 @default.
- W3215087151 cites W1972978465 @default.
- W3215087151 cites W1974537190 @default.
- W3215087151 cites W1977915729 @default.
- W3215087151 cites W1982265133 @default.
- W3215087151 cites W1983313606 @default.
- W3215087151 cites W1987891430 @default.
- W3215087151 cites W1988037954 @default.
- W3215087151 cites W1993394765 @default.
- W3215087151 cites W1994185723 @default.
- W3215087151 cites W1996427377 @default.
- W3215087151 cites W2001637781 @default.
- W3215087151 cites W2002491526 @default.
- W3215087151 cites W2005776119 @default.
- W3215087151 cites W2007502006 @default.
- W3215087151 cites W2008486246 @default.
- W3215087151 cites W2017081359 @default.
- W3215087151 cites W2017216268 @default.
- W3215087151 cites W2017879166 @default.
- W3215087151 cites W2023130151 @default.
- W3215087151 cites W2023937945 @default.
- W3215087151 cites W2025073474 @default.
- W3215087151 cites W2025442574 @default.
- W3215087151 cites W2030095794 @default.
- W3215087151 cites W2032712201 @default.
- W3215087151 cites W2033610825 @default.
- W3215087151 cites W2034221155 @default.
- W3215087151 cites W2038627469 @default.
- W3215087151 cites W2040263753 @default.
- W3215087151 cites W2048283079 @default.
- W3215087151 cites W2049423709 @default.
- W3215087151 cites W2061847367 @default.
- W3215087151 cites W2063176933 @default.
- W3215087151 cites W2066157162 @default.
- W3215087151 cites W2066748421 @default.
- W3215087151 cites W2066766358 @default.
- W3215087151 cites W2081737308 @default.
- W3215087151 cites W2085250537 @default.
- W3215087151 cites W2090518780 @default.
- W3215087151 cites W2093791495 @default.
- W3215087151 cites W2094026338 @default.
- W3215087151 cites W2105892139 @default.
- W3215087151 cites W2111180594 @default.
- W3215087151 cites W2111376852 @default.
- W3215087151 cites W2114232003 @default.
- W3215087151 cites W2116626773 @default.
- W3215087151 cites W2120874298 @default.
- W3215087151 cites W2125633197 @default.
- W3215087151 cites W2135156264 @default.
- W3215087151 cites W2138879560 @default.
- W3215087151 cites W2139377494 @default.
- W3215087151 cites W2142049423 @default.
- W3215087151 cites W2144812035 @default.
- W3215087151 cites W2146096836 @default.
- W3215087151 cites W2151234457 @default.
- W3215087151 cites W2155163477 @default.
- W3215087151 cites W2155609819 @default.
- W3215087151 cites W2167083760 @default.
- W3215087151 cites W2167966527 @default.
- W3215087151 cites W2217657055 @default.
- W3215087151 cites W228783596 @default.
- W3215087151 cites W2295813815 @default.
- W3215087151 cites W2299078557 @default.
- W3215087151 cites W2339771213 @default.
- W3215087151 cites W2514123856 @default.
- W3215087151 cites W2538108884 @default.
- W3215087151 cites W2554879519 @default.
- W3215087151 cites W2581491203 @default.
- W3215087151 cites W2587304416 @default.
- W3215087151 cites W2592177633 @default.
- W3215087151 cites W2734784372 @default.
- W3215087151 cites W2735898722 @default.
- W3215087151 cites W2770217842 @default.
- W3215087151 cites W2787170837 @default.
- W3215087151 cites W2796274876 @default.
- W3215087151 cites W2809941970 @default.
- W3215087151 cites W2884043390 @default.
- W3215087151 cites W2884060324 @default.
- W3215087151 cites W2890962223 @default.
- W3215087151 cites W2896157299 @default.
- W3215087151 cites W2911364918 @default.
- W3215087151 cites W2913052717 @default.
- W3215087151 cites W2915753741 @default.
- W3215087151 cites W2950337825 @default.