Matches in SemOpenAlex for { <https://semopenalex.org/work/W4280625111> ?p ?o ?g. }
- W4280625111 endingPage "18" @default.
- W4280625111 startingPage "18" @default.
- W4280625111 abstract "The 22q11.2 deletion is one of the most common genetic microdeletions, affecting approximately 1 in 4000 live births in humans. A 1.5 to 2.5 Mb hemizygous deletion of chromosome 22q11.2 causes DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). DGS/VCFS are associated with prevalent cardiac malformations, thymic and parathyroid hypoplasia, and craniofacial defects. Patients with DGS/VCFS manifest craniofacial anomalies involving the cranium, cranial base, jaws, pharyngeal muscles, ear-nose-throat, palate, teeth, and cervical spine. Most craniofacial phenotypes of DGS/VCFS are caused by proximal 1.5 Mb microdeletions, resulting in a hemizygosity of coding genes, microRNAs, and long noncoding RNAs. TBX1, located on chromosome 22q11.21, encodes a T-box transcription factor and is a candidate gene for DGS/VCFS. TBX1 regulates the fate of progenitor cells in the cranial and pharyngeal apparatus during embryogenesis. Tbx1-null mice exhibit the most clinical features of DGS/VCFS, including craniofacial phenotypes. Despite the frequency of DGS/VCFS, there has been a limited review of the craniofacial phenotypes of DGC/VCFS. This review focuses on these phenotypes and summarizes the current understanding of the genetic factors that impact DGS/VCFS-related phenotypes. We also review DGS/VCFS mouse models that have been designed to better understand the pathogenic processes of DGS/VCFS." @default.
- W4280625111 created "2022-05-22" @default.
- W4280625111 creator A5026535536 @default.
- W4280625111 date "2022-05-13" @default.
- W4280625111 modified "2023-10-01" @default.
- W4280625111 title "Craniofacial Phenotypes and Genetics of DiGeorge Syndrome" @default.
- W4280625111 cites W1482498530 @default.
- W4280625111 cites W1501608538 @default.
- W4280625111 cites W1506409704 @default.
- W4280625111 cites W1573772505 @default.
- W4280625111 cites W1895311395 @default.
- W4280625111 cites W1910466034 @default.
- W4280625111 cites W1955467086 @default.
- W4280625111 cites W1971446727 @default.
- W4280625111 cites W1971624220 @default.
- W4280625111 cites W1976658982 @default.
- W4280625111 cites W1980062177 @default.
- W4280625111 cites W1984934800 @default.
- W4280625111 cites W1985049886 @default.
- W4280625111 cites W1989003609 @default.
- W4280625111 cites W1991375522 @default.
- W4280625111 cites W1993950966 @default.
- W4280625111 cites W1997812904 @default.
- W4280625111 cites W1998066648 @default.
- W4280625111 cites W1998271775 @default.
- W4280625111 cites W2000058087 @default.
- W4280625111 cites W2001243412 @default.
- W4280625111 cites W2003898883 @default.
- W4280625111 cites W2006366674 @default.
- W4280625111 cites W2011715165 @default.
- W4280625111 cites W2013714561 @default.
- W4280625111 cites W2016109992 @default.
- W4280625111 cites W2019349956 @default.
- W4280625111 cites W2021171153 @default.
- W4280625111 cites W2022265743 @default.
- W4280625111 cites W2025046506 @default.
- W4280625111 cites W2029294928 @default.
- W4280625111 cites W2029870449 @default.
- W4280625111 cites W2034488322 @default.
- W4280625111 cites W2043208986 @default.
- W4280625111 cites W2047620648 @default.
- W4280625111 cites W2048488265 @default.
- W4280625111 cites W2050531362 @default.
- W4280625111 cites W2050880646 @default.
- W4280625111 cites W2053737560 @default.
- W4280625111 cites W2055104213 @default.
- W4280625111 cites W2055149470 @default.
- W4280625111 cites W2058605847 @default.
- W4280625111 cites W2061093976 @default.
- W4280625111 cites W2062291304 @default.
- W4280625111 cites W2063177042 @default.
- W4280625111 cites W2063854633 @default.
- W4280625111 cites W2065204423 @default.
- W4280625111 cites W2068142536 @default.
- W4280625111 cites W2068281991 @default.
- W4280625111 cites W2075039045 @default.
- W4280625111 cites W2075718352 @default.
- W4280625111 cites W2079384917 @default.
- W4280625111 cites W2080374649 @default.
- W4280625111 cites W2081135344 @default.
- W4280625111 cites W2081372952 @default.
- W4280625111 cites W2082590458 @default.
- W4280625111 cites W2087539267 @default.
- W4280625111 cites W2091644785 @default.
- W4280625111 cites W2093814700 @default.
- W4280625111 cites W2094748739 @default.
- W4280625111 cites W2096340328 @default.
- W4280625111 cites W2100387761 @default.
- W4280625111 cites W2101797804 @default.
- W4280625111 cites W2104746754 @default.
- W4280625111 cites W2105147128 @default.
- W4280625111 cites W2105985098 @default.
- W4280625111 cites W2108019645 @default.
- W4280625111 cites W2109517621 @default.
- W4280625111 cites W2113198452 @default.
- W4280625111 cites W2113521816 @default.
- W4280625111 cites W2115653214 @default.
- W4280625111 cites W2115833670 @default.
- W4280625111 cites W2120550563 @default.
- W4280625111 cites W2122457483 @default.
- W4280625111 cites W2125253114 @default.
- W4280625111 cites W2127396558 @default.
- W4280625111 cites W2128345721 @default.
- W4280625111 cites W2132189464 @default.
- W4280625111 cites W2133607541 @default.
- W4280625111 cites W2135258063 @default.
- W4280625111 cites W2135934912 @default.
- W4280625111 cites W2138071615 @default.
- W4280625111 cites W2139196540 @default.
- W4280625111 cites W2139639100 @default.
- W4280625111 cites W2140146453 @default.
- W4280625111 cites W2140279570 @default.
- W4280625111 cites W2141328836 @default.
- W4280625111 cites W2143481531 @default.
- W4280625111 cites W2148011592 @default.
- W4280625111 cites W2148680251 @default.
- W4280625111 cites W2151504171 @default.
- W4280625111 cites W2155466172 @default.