Results 111 to 120 of about 5,757 (204)

DiGeorge syndrome gene tbx1 functions through wnt11r to regulate heart morphology and function [PDF]

, 2013
DiGeorge syndrome (DGS) is the most common microdeletion syndrome, and is characterized by congenital cardiac, craniofacial and immune system abnormalities. The cardiac defects in DGS patients include conotruncal and ventricular septal defects.
Choudhry, Priya, Trede, Nikolaus S.
core  

Ece1 and Tbx1 define distinct pathways to aortic arch morphogenesis

, 2003
Pharyngeal arch artery (PAA) remodeling defects account for several cases of congenital heart disease. Mutations in the Endothelin-1 genetic pathway or Tbx1, a candidate gene for DiGeorge syndrome, cause similar aortic arch defects.
BALDINI, ANTONIO, M. Morishima, M. Yanagisawa, H. Yanagisawa   +3 more
core   +1 more source

Bulbous arteriosus defects in tbx1^−/− embryos.

, 2013
Dissected hearts from 72 hpf embryos showing the BA region (A, D) outlined in white, with the bidirectional arrowheads in black and red showing the length and width of BA, respectively. (B, E) The corresponding images showing staining for Alcama antibody
Priya Choudhry (393639), Nikolaus S. Trede (393640)   +1 more
core   +1 more source

Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome

Nature Communications
Neurodevelopmental disorders are thought to arise from intrinsic brain abnormalities. Alternatively, they may arise from disrupted crosstalk among tissues.
Tae-Yeon Eom, J. Eric Schmitt, Yiran Li, Christopher M. Davenport, Jeffrey Steinberg, Audrey Bonnan, Shahinur Alam, Young Sang Ryu, Leena Paul, Baranda S. Hansen, Khaled Khairy, Stephane Pelletier, Shondra M. Pruett-Miller, David R. Roalf, Raquel E. Gur, Beverly S. Emanuel, Donna M. McDonald-McGinn, Jesse N. Smith, Cai Li, Jason M. Christie, Paul A. Northcott, Stanislav S. Zakharenko   +21 more
doaj   +1 more source

Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer [PDF]

, 2003
Haploinsufficiency of Tbx1 is likely a major determinant of cardiac and craniofacial birth defects associated with DiGeorge syndrome. Although mice deficient in Tbx1 exhibit pharyngeal and aortic arch defects, the developmental program and mechanisms ...
Hu, T. H., Yamagishi, C., Conway, S. J., Srivastava, D., Yamagishi, H., Kume, T., 胡天惠, Maeda, J., McAnally, J., Meyers, E. N.   +9 more
core  

Tbx1regulates extracellular matrix-cell interactions in the second heart field

, 2018
SUMMARYTbx1,the major candidate gene for DiGeorge or 22q11.2 deletion syndrome, is required for efficient incorporation of cardiac progenitors (CPs) of the second heart field (SHF) into the heart.
Marchesa Bilio, Daniela Alfano, Claudio Cortes, Antonio Baldini, Alessandra Altomonte, Robert G. Kelly   +5 more
core   +1 more source

TBX1 Gene [PDF]

, 2020
openaire   +1 more source

NK4 contributes to restricting Tbx1/10 expression to the ASM precursors.

, 2013
(A–D, I–K and Q–S) Tbx1/10 mRNAs (green), (E–H, M–P) Tbx1/10 nascent transcripts (green) and (Q–S) COE mRNA (blue). Larvae electroporated with Mesp>nls:lacZ (red), FoxF>mCherry (I, M and O), FoxF>dnNK4 (J, N and P), and FoxF>NK4 (K).
Alexandra Ketcham (492291), Wei Wang (17594), Eric Siu (318570), Florian Razy-Krajka (492290), Lionel Christiaen (250348)   +4 more
core   +1 more source

In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS.

PLoS ONE
The TBX1 gene plays a critical role in the development of 22q11.2 deletion syndrome (22q11.2DS), a complex genetic disorder associated with various phenotypic manifestations.
Maitha Almakhari, Yan Chen, Amanda Shen-Yee Kong, Danesh Moradigaravand, Kok-Song Lai, Swee-Hua Erin Lim, Jiun-Yan Loh, Sathiya Maran   +7 more
doaj   +1 more source

TBX1 wt Allele [PDF]

, 2020
openaire   +1 more source