Results 1 to 10 of about 8,293 (176)

Adipose TBX1 regulates β-adrenergic sensitivity in subcutaneous adipose tissue and thermogenic capacity in vivo

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, Abdul Qaadir King-Mcalpin, James A Ankrum   +2 more
exaly   +3 more sources

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 (
Yamin Zhang
exaly   +3 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

Defective Vagal Innervation in Murine Tbx1 Mutant Hearts

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, Jenifer P Suntharalingham, Andrew Tinker   +2 more
exaly   +3 more sources

Mexican Patients With Suspected 22q11.2 Deletion Syndrome: Clinical Characterization and Molecular Findings by Fluorescence In Situ Hybridization and Multiplex Ligation-Dependent Probe Amplification. [PDF]

Mol Genet Genomic Med
Evaluation of 80 Mexican patients with suspected 22q11.2 deletion syndrome, including detailed phenotypic characterization. Multiplex ligation‐dependent probe amplification identified both typical and atypical deletions, underscoring the need for complementary approaches to fluorescence in situ hybridization.
Aguayo-Orozco TA, Rivera H, Figuera LE, Esparza-García E, Perea-Díaz FJ, Jaloma-Cruz AR, Rizo-de la Torre LDC, Domínguez-Quezada MG.   +7 more
europepmc   +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

Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus [PDF]

BMC Medical Genetics, 2011
Background Conotruncal heart defects (CTDs) are present in 75-85% of patients suffering from the 22q11.2 deletion syndrome. To date, no consistent phenotype has been consistently correlated with the 22q11.2 deletions. Genetic studies have implicated TBX1
Xu Yue-Juan, Wang Jian, Xu Rang, Zhao Peng-Jun, Wang Xi-Ke, Sun Heng-Juan, Bao Li-Ming, Shen Jie, Fu Qi-Hua, Li Fen, Sun Kun   +10 more
doaj   +2 more sources

Brain and behavioural anomalies caused by Tbx1 haploinsufficiency are corrected by vitamin B12 [PDF]

Life Science Alliance
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, Debora Paris, Giulia Torromino, Michele Costanzo, Gemma Flore, Annabella Tramice, Elisabetta Golini, Silvia Mandillo, Diletta Cavezza, Claudia Angelini, Margherita Ruoppolo, Andrea Motta, Elvira De Leonibus, Antonio Baldini, Elizabeth Illingworth, Gabriella Lania   +15 more
doaj   +2 more sources

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

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   +2 more sources

Regulating Retinoic Acid Availability during Development and Regeneration: The Role of the CYP26 Enzymes. [PDF]

, 2020
This review focuses on the role of the Cytochrome p450 subfamily 26 (CYP26) retinoic acid (RA) degrading enzymes during development and regeneration. Cyp26 enzymes, along with retinoic acid synthesising enzymes, are absolutely required for RA homeostasis
Roberts, C
core   +4 more sources