163 related articles for article (PubMed ID: 24748541)
1. HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region.
Dykes IM; van Bueren KL; Ashmore RJ; Floss T; Wurst W; Szumska D; Bhattacharya S; Scambler PJ
Circ Res; 2014 Jun; 115(1):23-31. PubMed ID: 24748541
[TBL] [Abstract][Full Text] [Related]
2. Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field.
Nowotschin S; Liao J; Gage PJ; Epstein JA; Campione M; Morrow BE
Development; 2006 Apr; 133(8):1565-73. PubMed ID: 16556915
[TBL] [Abstract][Full Text] [Related]
3. Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome.
Hasten E; McDonald-McGinn DM; Crowley TB; Zackai E; Emanuel BS; Morrow BE; Racedo SE
Hum Mol Genet; 2018 Jun; 27(11):1847-1857. PubMed ID: 29509905
[TBL] [Abstract][Full Text] [Related]
4. Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.
Racedo SE; McDonald-McGinn DM; Chung JH; Goldmuntz E; Zackai E; Emanuel BS; Zhou B; Funke B; Morrow BE
Am J Hum Genet; 2015 Feb; 96(2):235-44. PubMed ID: 25658046
[TBL] [Abstract][Full Text] [Related]
5. Setd5 is required in cardiopharyngeal mesoderm for heart development and its haploinsufficiency is associated with outflow tract defects in mouse.
Cheung MY; Roberts C; Scambler P; Stathopoulou A
Genesis; 2021 Aug; 59(7-8):e23421. PubMed ID: 34050709
[TBL] [Abstract][Full Text] [Related]
6. Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.
Mastromoro G; Calcagni G; Versacci P; Putotto C; Chinali M; Lambiase C; Unolt M; Pelliccione E; Anaclerio S; Caprio C; Cioffi S; Bilio M; Baban A; Drago F; Digilio MC; Marino B; Baldini A
PLoS One; 2019; 14(4):e0211170. PubMed ID: 30933971
[TBL] [Abstract][Full Text] [Related]
7. The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1.
Papangeli I; Scambler P
Wiley Interdiscip Rev Dev Biol; 2013; 2(3):393-403. PubMed ID: 23799583
[TBL] [Abstract][Full Text] [Related]
8. 22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.
Scambler PJ
Pediatr Cardiol; 2010 Apr; 31(3):378-90. PubMed ID: 20054531
[TBL] [Abstract][Full Text] [Related]
9. Tbx1 coordinates addition of posterior second heart field progenitor cells to the arterial and venous poles of the heart.
Rana MS; Théveniau-Ruissy M; De Bono C; Mesbah K; Francou A; Rammah M; Domínguez JN; Roux M; Laforest B; Anderson RH; Mohun T; Zaffran S; Christoffels VM; Kelly RG
Circ Res; 2014 Oct; 115(9):790-9. PubMed ID: 25190705
[TBL] [Abstract][Full Text] [Related]
10. Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.
Breckpot J; Thienpont B; Bauters M; Tranchevent LC; Gewillig M; Allegaert K; Vermeesch JR; Moreau Y; Devriendt K
Am J Med Genet A; 2012 Mar; 158A(3):574-80. PubMed ID: 22318985
[TBL] [Abstract][Full Text] [Related]
11. Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review.
Spineli-Silva S; Bispo LM; Gil-da-Silva-Lopes VL; Vieira TP
Eur J Med Genet; 2018 May; 61(5):262-268. PubMed ID: 29288792
[TBL] [Abstract][Full Text] [Related]
12. Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.
Xu YJ; Chen S; Zhang J; Fang SH; Guo QQ; Wang J; Fu QH; Li F; Xu R; Sun K
BMC Med Genet; 2014 Jul; 15():78. PubMed ID: 24998776
[TBL] [Abstract][Full Text] [Related]
13. Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome.
Guner-Ataman B; González-Rosa JM; Shah HN; Butty VL; Jeffrey S; Abrial M; Boyer LA; Burns CG; Burns CE
Cell Rep; 2018 Jul; 24(5):1342-1354.e5. PubMed ID: 30067987
[TBL] [Abstract][Full Text] [Related]
14. Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome.
van Bueren KL; Papangeli I; Rochais F; Pearce K; Roberts C; Calmont A; Szumska D; Kelly RG; Bhattacharya S; Scambler PJ
Dev Biol; 2010 Apr; 340(2):369-80. PubMed ID: 20122914
[TBL] [Abstract][Full Text] [Related]
15. Reduced dosage of β-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome.
Racedo SE; Hasten E; Lin M; Devakanmalai GS; Guo T; Ozbudak EM; Cai CL; Zheng D; Morrow BE
PLoS Genet; 2017 Mar; 13(3):e1006687. PubMed ID: 28346476
[TBL] [Abstract][Full Text] [Related]
16. Identification of a Tbx1/Tbx2/Tbx3 genetic pathway governing pharyngeal and arterial pole morphogenesis.
Mesbah K; Rana MS; Francou A; van Duijvenboden K; Papaioannou VE; Moorman AF; Kelly RG; Christoffels VM
Hum Mol Genet; 2012 Mar; 21(6):1217-29. PubMed ID: 22116936
[TBL] [Abstract][Full Text] [Related]
17. Epiblastic Cited2 deficiency results in cardiac phenotypic heterogeneity and provides a mechanism for haploinsufficiency.
MacDonald ST; Bamforth SD; Chen CM; Farthing CR; Franklyn A; Broadbent C; Schneider JE; Saga Y; Lewandoski M; Bhattacharya S
Cardiovasc Res; 2008 Aug; 79(3):448-57. PubMed ID: 18440989
[TBL] [Abstract][Full Text] [Related]
18. Pharyngeal epithelial deletion of Tbx1 causes caudal pharyngeal arch defect but not cardiac conotruncal anomaly.
Wei L; Wang W; Yang J; Huang X; Baldini A; Zhang Z
Biochem Biophys Res Commun; 2020 Dec; 533(4):1315-1322. PubMed ID: 33066956
[TBL] [Abstract][Full Text] [Related]
19. Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
Verhagen JM; Diderich KE; Oudesluijs G; Mancini GM; Eggink AJ; Verkleij-Hagoort AC; Groenenberg IA; Willems PJ; du Plessis FA; de Man SA; Srebniak MI; van Opstal D; Hulsman LO; van Zutven LJ; Wessels MW
Am J Med Genet A; 2012 Oct; 158A(10):2412-20. PubMed ID: 22893440
[TBL] [Abstract][Full Text] [Related]
20. Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice.
Lindsay EA; Vitelli F; Su H; Morishima M; Huynh T; Pramparo T; Jurecic V; Ogunrinu G; Sutherland HF; Scambler PJ; Bradley A; Baldini A
Nature; 2001 Mar; 410(6824):97-101. PubMed ID: 11242049
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]