Results 21 to 30 of about 5,757 (204)

Transposisi Arteri Besar dan mutasi gen TBX1

Sari Pediatri, 2016
Latar belakang. Transposisi arteri besar (TAB) adalah suatu penyakit jantung bawaan (PJB) yang termasuk dalam malformasi konotrunkal. Kelainan terasebut ditemukan sekitar 5% dari seluruh PJB.
Sri Endah Rahayuningsih
doaj   +2 more sources

DiGeorge syndrome gene tbx1 functions through wnt11r to regulate heart looping and differentiation. [PDF]

PLoS ONE, 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.
Priya Choudhry, Nikolaus S Trede
doaj   +2 more sources

Tbx1 regulates the BMP-Smad1 pathway in a transcription independent manner.

PLoS ONE, 2009
Tbx1 is a T-box transcription factor implicated in DiGeorge syndrome. The molecular function of Tbx1 is unclear although it can transactivate reporters with T-box binding elements.
F Gabriella Fulcoli, Tuong Huynh, Peter J Scambler, Antonio Baldini   +3 more
doaj   +2 more sources

Tbx1 Regulates Proliferation and Differentiation of Multipotent Heart Progenitors [PDF]

Circulation Research, 2009
Rationale: TBX1 encodes a T-box transcription factor implicated in DiGeorge syndrome, which affects the development of many organs, including the heart.
BALDINI, ANTONIO, Filomena Gabriella Fulcoli, Susan Tang, F. G. Fulcoli, S. Tang, L. Chen, Li Chen, Antonio Baldini   +7 more
core   +6 more sources

Early thyroid development requires a Tbx1-Fgf8 pathway [PDF]

Developmental Biology, 2009
The thyroid develops within the pharyngeal apparatus from endodermally-derived cells. The many derivatives of the pharyngeal apparatus develop at similar times and sometimes from common cell types, explaining why many syndromic disorders express multiple
Lania, Gabriella, Vitelli, Francesca, Zhang, Zhen, Z. Zhang, T. Huynh, A. M. Moon, F. Vitelli, BALDINI, ANTONIO, G. Lania, Huynh, Tuong, Caprio, Cinzia, C. Caprio, Moon, Anne M.   +12 more
core   +5 more sources

Tbx1 plays a critical role in focal adhesion dynamics through paxillin regulation [PDF]

Life Science Alliance
Tbx1 is essential for cell adhesion by regulating focal adhesion dynamics, primarily through influencing the disassembly process. Tbx1 modulates cell spreading via the paxillin signalling pathway and integrin trafficking control.
Olimpia Iacolare, Rosa Ferrentino, Alessandra Altomonte, Christopher E Turner, Antonio Baldini, Daniela Alfano   +5 more
doaj   +2 more sources

Paxillin is crucial for thymus and parathyroid development by regulating the architecture of the third pharyngeal pouch endoderm [PDF]

Cellular and Molecular Life Sciences
The paxillin (PXN) protein is a key component of focal adhesions in which it primarily functions as a molecular scaffold to spatiotemporally integrate diverse signalling networks to transduce intracellular responses. In this study, using loss-of-function
O. Iacolare, M. Bilio, A. Altomonte, O. Lanzetta, C. Turner, A. Baldini, D. Alfano   +6 more
doaj   +2 more sources

A novel TBX1 variant causing hypoparathyroidism and deafness [PDF]

Journal of the Endocrine Society, 2019
Background. The TBX1 gene encodes the T-box 1 protein that is a transcription factor involved in development. Haploinsufficiency of the TBX1 gene is reported to cause features similar to DiGeorge syndrome.
El-Wetidy, Mohammed, Kashour, Tarek, Alghamdi, Malak, Al Khalifah, Reem, Alkhamis, Waleed H., Arold, Stefan T., Halwani, Rabih, Ekhzaimy, Aishah, Al Homyani, Doua K.   +8 more
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Fgf8 expression in the Tbx1 domain causes skeletal abnormalities and modifies the aortic arch but not the outflow tract phenotype of Tbx1 mutants [PDF]

Developmental Biology, 2006
Fgf8 and Tbx1 have been shown to interact in patterning the aortic arch, and both genes are required in formation and growth of the outflow tract of the heart. However, the nature of the interaction of the two genes is unclear.
Zhen Zhang, Baldini, Antonio, Vitelli, Francesca, Huynh, Tuong, Zhang, Zhen, Sobotka, Angela, Mupo, Annalisa, Angela Sobotka, Antonio Baldini, Annalisa Mupo, Francesca Vitelli, Tuong Huynh   +11 more
core   +4 more sources

Tbx1 regulation of myogenic differentiation in the limb and cranial mesoderm [PDF]

Developmental Dynamics, 2007
The T-box transcription factor Tbx1 has been implicated in DiGeorge syndrome, the most frequent syndrome due to a chromosomal deletion. Gene inactivation of Tbx1 in mice results in craniofacial and branchial arch defects, including myogenic defects in ...
Zhen Zhang, P. Francis West, Rebecca Walker, Walker, R, Z. Zhang, Dastjerdi, A, L. Robson, Akbar Dastjerdi, P. Ataliotis, A. Dastjerdi, Rodriguez-Niedenfuhr, M, Robson, L, M. Rodriguez Niedenfuhr, P. Scambler, Paris Ataliotis, Scambler, P, Lesley Robson, Marc Rodriguez‐Niedenführ, Ataliotis, P, Zhang, Z, BALDINI, ANTONIO, R. Walker, Hadley, J, Julia Hadley, Baldini, A, Francis-West, P, Philippa Francis‐West, J. Hadley, Antonio Baldini, Peter Scambler   +29 more
core   +5 more sources