Defective Vagal Innervation in Murine Tbx1 Mutant Hearts [PDF]
Journal of Cardiovascular Development and Disease, 2018 Haploinsufficiency of the T-box transcription factor TBX1 is responsible for many features of 22q11.2 deletion syndrome. Tbx1 is expressed dynamically in the pharyngeal apparatus during mouse development and Tbx1 homozygous mutants display numerous ...
Amélie Calmont +2 more
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Molecular Metabolism, 2020 Objective: T-box 1 (TBX1) has been identified as a genetic marker of beige adipose tissue. TBX1 is a mesodermal development transcription factor essential for tissue patterning and cell fate determination.
Kathleen R Markan +2 more
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TBX1 Functions as a Tumor Activator in Prostate Cancer by Promoting Ribosome RNA Gene Transcription
Frontiers in Oncology, 2021 TBX1 belongs to an evolutionarily conserved family of transcription factors involved in organ development. TBX1 has been reported to have a hypermethylated cytosine guanine dinucleotide island around its second exon, which was related to prostate cancer (
Hongyi Zhang
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Tbx1 heterozygosity in the oligodendrocyte lineage shifts myelinated axon composition in the mouse fimbria without behavioral impairments [PDF]
Molecular BrainConstitutive heterozygosity of Tbx1, a T-box transcription factor gene located within the 22q11.2 deletion region, results in behavioral deficits and altered composition of myelinated axons in the fimbria, together with reduced levels of an ...
Anne Marie Wells +8 more
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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
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Tbx1 plays a critical role in focal adhesion dynamics through paxillin regulation [PDF]
Life Science AllianceTbx1 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
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Paxillin is crucial for thymus and parathyroid development by regulating the architecture of the third pharyngeal pouch endoderm [PDF]
Cellular and Molecular Life SciencesThe 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
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Brain and behavioural anomalies caused by Tbx1 haploinsufficiency are corrected by vitamin B12 [PDF]
Life Science AllianceThe 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
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Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome [PDF]
Nature CommunicationsNeurodevelopmental disorders are thought to arise from intrinsic brain abnormalities. Alternatively, they may arise from disrupted crosstalk among tissues.
Tae-Yeon Eom +21 more
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Scientific Reports, 2022 TBX1, which encodes a T-box transcription factor, is considered a candidate gene for DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome.
Noriko Funato, Hiromi Yanagisawa
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