Matches in SemOpenAlex for { <https://semopenalex.org/work/W1930606009> ?p ?o ?g. }
- W1930606009 endingPage "232" @default.
- W1930606009 startingPage "220" @default.
- W1930606009 abstract "Orofacial clefting is a common birth defect with significant morbidity. A panoply of candidate genes have been discovered through synergy of animal models and human genetics. Among these, variants in interferon regulatory factor 6 (IRF6) cause syndromic orofacial clefting and contribute risk toward isolated cleft lip and palate (1/700 live births). Rare variants in IRF6 can lead to Van der Woude syndrome (1/35,000 live births) and popliteal pterygium syndrome (1/300,000 live births). Furthermore, IRF6 regulates GRHL3 and rare variants in this downstream target can also lead to Van der Woude syndrome. In addition, a common variant (rs642961) in the IRF6 locus is found in 30% of the world's population and contributes risk for isolated orofacial clefting. Biochemical studies revealed that rs642961 abrogates one of four AP-2alpha binding sites. Like IRF6 and GRHL3, rare variants in TFAP2A can also lead to syndromic orofacial clefting with lip pits (branchio-oculo-facial syndrome). The literature suggests that AP-2alpha, IRF6 and GRHL3 are part of a pathway that is essential for lip and palate development. In addition to updating the pathways, players and pursuits, this review will highlight some of the current questions in the study of orofacial clefting." @default.
- W1930606009 created "2016-06-24" @default.
- W1930606009 creator A5047151480 @default.
- W1930606009 creator A5071759530 @default.
- W1930606009 date "2015-09-17" @default.
- W1930606009 modified "2023-10-14" @default.
- W1930606009 title "Toward an orofacial gene regulatory network" @default.
- W1930606009 cites W106870315 @default.
- W1930606009 cites W126487324 @default.
- W1930606009 cites W1522354953 @default.
- W1930606009 cites W1540177878 @default.
- W1930606009 cites W1546520882 @default.
- W1930606009 cites W1561172134 @default.
- W1930606009 cites W1568067102 @default.
- W1930606009 cites W1589967043 @default.
- W1930606009 cites W1821917045 @default.
- W1930606009 cites W187597364 @default.
- W1930606009 cites W1940945741 @default.
- W1930606009 cites W1964690949 @default.
- W1930606009 cites W1967164347 @default.
- W1930606009 cites W1968344288 @default.
- W1930606009 cites W1968467468 @default.
- W1930606009 cites W1969622783 @default.
- W1930606009 cites W1971349031 @default.
- W1930606009 cites W1971404858 @default.
- W1930606009 cites W1973100391 @default.
- W1930606009 cites W1977275507 @default.
- W1930606009 cites W1978406914 @default.
- W1930606009 cites W1980232160 @default.
- W1930606009 cites W1981726745 @default.
- W1930606009 cites W1984496419 @default.
- W1930606009 cites W1985928359 @default.
- W1930606009 cites W1985999273 @default.
- W1930606009 cites W1988674102 @default.
- W1930606009 cites W1991716136 @default.
- W1930606009 cites W1992160822 @default.
- W1930606009 cites W1992708752 @default.
- W1930606009 cites W1997822371 @default.
- W1930606009 cites W1997948808 @default.
- W1930606009 cites W1998143354 @default.
- W1930606009 cites W1999785123 @default.
- W1930606009 cites W2000752011 @default.
- W1930606009 cites W2002328158 @default.
- W1930606009 cites W2003757491 @default.
- W1930606009 cites W2005717095 @default.
- W1930606009 cites W2007116888 @default.
- W1930606009 cites W2007840090 @default.
- W1930606009 cites W2011163865 @default.
- W1930606009 cites W2012048902 @default.
- W1930606009 cites W2012592125 @default.
- W1930606009 cites W2013871874 @default.
- W1930606009 cites W2015721248 @default.
- W1930606009 cites W2015920673 @default.
- W1930606009 cites W2016473180 @default.
- W1930606009 cites W2016887743 @default.
- W1930606009 cites W2017561865 @default.
- W1930606009 cites W2023867333 @default.
- W1930606009 cites W2023898808 @default.
- W1930606009 cites W2024222584 @default.
- W1930606009 cites W2026600417 @default.
- W1930606009 cites W2028012788 @default.
- W1930606009 cites W2028689768 @default.
- W1930606009 cites W2029787649 @default.
- W1930606009 cites W2035757354 @default.
- W1930606009 cites W2036077838 @default.
- W1930606009 cites W2036096121 @default.
- W1930606009 cites W2036403224 @default.
- W1930606009 cites W2036957298 @default.
- W1930606009 cites W2037178132 @default.
- W1930606009 cites W2037705608 @default.
- W1930606009 cites W2038304423 @default.
- W1930606009 cites W2042433986 @default.
- W1930606009 cites W2042570767 @default.
- W1930606009 cites W2042681354 @default.
- W1930606009 cites W2043401409 @default.
- W1930606009 cites W2045641614 @default.
- W1930606009 cites W2046895384 @default.
- W1930606009 cites W2047792151 @default.
- W1930606009 cites W2048776474 @default.
- W1930606009 cites W2055442389 @default.
- W1930606009 cites W2055468921 @default.
- W1930606009 cites W2057129148 @default.
- W1930606009 cites W2057868161 @default.
- W1930606009 cites W2060154076 @default.
- W1930606009 cites W2060975519 @default.
- W1930606009 cites W2061818678 @default.
- W1930606009 cites W2062312459 @default.
- W1930606009 cites W2063046626 @default.
- W1930606009 cites W2064994597 @default.
- W1930606009 cites W2067040769 @default.
- W1930606009 cites W2067144299 @default.
- W1930606009 cites W2071075259 @default.
- W1930606009 cites W2076320536 @default.
- W1930606009 cites W2076989026 @default.
- W1930606009 cites W2077665047 @default.
- W1930606009 cites W2077895194 @default.
- W1930606009 cites W2078129053 @default.
- W1930606009 cites W2078289292 @default.