Tbx1 Regulates Proliferation and Differentiation of Multipotent Heart Progenitors [PDF]
Rationale: TBX1 encodes a T-box transcription factor implicated in DiGeorge syndrome, which affects the development of many organs, including the heart.
BALDINI, ANTONIO +7 more
core +6 more sources
Tbx1 plays a critical role in focal adhesion dynamics through paxillin regulation [PDF]
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 +5 more
doaj +2 more sources
Early thyroid development requires a Tbx1-Fgf8 pathway [PDF]
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 +12 more
core +5 more sources
Paxillin is crucial for thymus and parathyroid development by regulating the architecture of the third pharyngeal pouch endoderm [PDF]
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 +6 more
doaj +2 more sources
A novel TBX1 variant causing hypoparathyroidism and deafness [PDF]
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 +8 more
core +5 more sources
A Myocyte-Enriched Long Non-Coding RNA NRMLncR Enhances Myogenesis in Mouse. [PDF]
We identified a novel myocyte‐enriched, Notch‐repressed myogenic lncRNA, NRMLncR, that is induced by myogenic regulatory factors (MRFs) during myogenic progression in mouse. NRMLncR localizes to cytoplasmic and nuclear compartments, associates with the RNA‐binding protein CUGBP Elav‐like family member 1 (CELF1), and is linked to neighboring gene Tbx1 ...
Li Y +12 more
europepmc +2 more sources
Fgf8 expression in the Tbx1 domain causes skeletal abnormalities and modifies the aortic arch but not the outflow tract phenotype of Tbx1 mutants [PDF]
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 +11 more
core +4 more sources
Tbx1 regulation of myogenic differentiation in the limb and cranial mesoderm [PDF]
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 +29 more
core +5 more sources
Brain and behavioural anomalies caused by Tbx1 haploinsufficiency are corrected by vitamin B12 [PDF]
The study shows that mice that are a model of 22q11.2 deletion syndrome have abnormal brain metabolism, and it identifies potential biomarkers of metabolic brain disease in 22q11.2DS patients.
Marianna Caterino +15 more
doaj +2 more sources
TBX1 IS REQUIRED IN BRAIN VASCULARIZATION
The developing microvasculature has a key role in the development, maintenance and repair of the brain and several studies have linked perinatal microvascular damage to an increased risk for schizophrenia and other psychotic disorders.
Cioffi, Sara
core +3 more sources

