scholarly journals TBX1 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Tbx1 Gene

Genetic Variant of TBX1 Gene is Functionally Associated with Adolescent Idiopathic Scoliosis in the Chinese Population

Spine ◽  
2020 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Yang Li ◽  
Zhichong Wu ◽  
LeiLei Xu ◽  
Zhenhua Feng ◽  
Yuwen Wang ◽  
...  
Keyword(s):  
Adolescent Idiopathic Scoliosis ◽  
Idiopathic Scoliosis ◽  
Chinese Population ◽  
Genetic Variant ◽  
Tbx1 Gene

Manipulation of endogenous regulatory elements and transgenic analyses of the Tbx1 gene

2010 ◽  
Vol 21 (11-12) ◽  
pp. 556-564 ◽  
Author(s):  
Zhen Zhang ◽  
Antonio Baldini
Keyword(s):  
Regulatory Elements ◽  
Tbx1 Gene

scholarly journals Screening for Mutations in the TBX1 Gene on Chromosome 22q11.2 in Schizophrenia

Genes ◽  
2016 ◽  
Vol 7 (11) ◽  
pp. 102 ◽  
Author(s):  
Lieh-Yung Ping ◽  
Yang-An Chuang ◽  
Shih-Hsin Hsu ◽  
Hsin-Yao Tsai ◽  
Min-Chih Cheng
Keyword(s):  
Tbx1 Gene ◽  
Chromosome 22Q11.2

Genetic analysis of the TBX1 gene promoter in indirect inguinal hernia

Gene ◽  
2014 ◽  
Vol 535 (2) ◽  
pp. 290-293 ◽  
Author(s):  
Yu Zhang ◽  
Qingluan Han ◽  
Chunyu Li ◽  
Wei Li ◽  
Hongjin Fan ◽  
...  
Keyword(s):  
Inguinal Hernia ◽  
Genetic Analysis ◽  
Gene Promoter ◽  
Indirect Inguinal Hernia ◽  
Tbx1 Gene

MicroRNA-144 Regulates Cardiomyocyte Proliferation and Apoptosis by Targeting TBX1 through the JAK2/STAT1 Pathway

2019 ◽  
Vol 159 (4) ◽  
pp. 190-200 ◽  
Author(s):  
Mei-Ling Cao ◽  
Bin-Lu Zhu ◽  
Yuan-Yuan Sun ◽  
Guang-Rong Qiu ◽  
Wei-Neng Fu ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Signaling Pathway ◽  
Cell Apoptosis ◽  
Luciferase Reporter Assay ◽  
Luciferase Reporter ◽  
H9c2 Cell ◽  
Reporter Assay ◽  
Regulatory Relationship ◽  
Tbx1 Gene ◽  
Stat1 Signaling

It is currently believed that the TBX1 gene is one of the core genes of congenital heart disease (CHD). However, there are few studies on the abnormal regulation of TBX1 gene expression. The purpose of this work was to investigate the role of miR-144 and TBX1 in cardiac development by studying the regulatory relationship and mechanism of miR-144 on TBX1/JAK2/STAT1 in cardiomyocytes. Cell proliferation was detected by MTT and clone formation assay and cell cycle and apoptosis by flow cytometry. The levels of miR-144 and TBX1 in H9c2 cells were assessed by qRT-PCR. Dual luciferase reporter assay was used to validate the direct targeting of TBX1 with miR-144. The protein expression levels of TBX1 and its downstream proteins were measured by Western blot analysis. miR-144 inhibited H9c2 cell proliferation by arresting cells in G1 phase. Furthermore, miR-144 induced H9c2 cell apoptosis and activated the JAK2/STAT1 signaling pathway. Bioinformatic predictions and luciferase reporter assay showed that miR-144 directly targets TBX1. Co-overexpression of miR-144 and TBX1 upregulated cell proliferation by accelerating G1 to S phase transition and downregulated cell apoptosis through inhibiting the JAK2/STAT1 signaling pathway. miR-144 acts as a proliferation inhibitor in cardiomyocytes via the TBX1/JAK2/STAT1 axis and is therefore a potential novel therapeutic target for CHD treatment.

scholarly journals Screening for TBX1 Gene in Children With or Without Microdeletion of Chromosome 22q11 and Conotruncal Defect

2012 ◽  
Vol 43 (2) ◽  
pp. 11-13 ◽  
Author(s):  
Alka Anilkumar ◽  
Mahesh Kappanayil ◽  
Sheela Nampoothiri ◽  
M.V. Thampi ◽  
D.M. Vasudevan ◽  
...  
Keyword(s):  
Tbx1 Gene ◽  
Chromosome 22Q11

scholarly journals Generation of human iPSC line from a patient with Tetralogy of Fallot, YAHKMUi001-A, carrying a mutation in TBX1 gene

2020 ◽  
Vol 42 ◽  
pp. 101687
Author(s):  
Shen Han ◽  
Ya-yong Zhang ◽  
Ming-yao Meng ◽  
Zong-liu Hou ◽  
Ping Meng ◽  
...  
Keyword(s):  
Tetralogy Of Fallot ◽  
Ipsc Line ◽  
Tbx1 Gene ◽  
Human Ipsc

Genetic analysis of the TBX1 gene promoter in ventricular septal defects

2012 ◽  
Vol 370 (1-2) ◽  
pp. 53-58 ◽  
Author(s):  
Haihua Wang ◽  
Dongfeng Chen ◽  
Liming Ma ◽  
Haihong Meng ◽  
Yumei Liu ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Gene Promoter ◽  
Ventricular Septal Defects ◽  
Septal Defects ◽  
Tbx1 Gene

scholarly journals A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness

2019 ◽  
Vol 4 (2) ◽  
Author(s):  
Malak Alghamdi ◽  
Reem Al Khalifah ◽  
Doua K Al Homyani ◽  
Waleed H Alkhamis ◽  
Stefan T Arold ◽  
...  
Keyword(s):  
Gene Expression ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Digeorge Syndrome ◽  
Cardiac Involvement ◽  
Nuclear Localization Sequence ◽  
Whole Genome ◽  
Transactivation Domain ◽  
Tbx1 Gene ◽  
Exon 9

Abstract 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. The TBX1 gene is located within the DiGeorge syndrome region, and studies support that the TBX1gene is responsible for most of the features of the phenotype of hemizygous deletion of chromosome 22q11.2. In this study, we report a family of 4 (a father with 3 children) who presented with congenital hypoparathyroidism and hypocalcemia, facial asymmetry, deafness, normal intelligence, and no cardiac involvement. Methods We performed whole genome sequencing, computational structural analysis of the mutants, and gene expression studies for all affected family members. Results Whole genome sequencing revealed a paternal inherited novel heterozygous variant, c.1158_1159delinsT p.(Gly387Alafs*73), in the exon 9 isoform C TBX1 gene, causing a loss of nuclear localization sequence (NLS) and transactivation domain (TAD) with no change in gene expression and resulted in a DiGeorge-like phenotype. Conclusion A pathogenic variant in the TBX1 gene exon 9 C that predicted to cause a loss in the NLS region and most of TAD leads to variable features of hypoparathyroidism, distinctive facial features, deafness, and no cardiac involvement. In addition, our report and previous reports indicate the presence of a wide phenotypic spectrum of TBX1 genetic variants and the consistent absence of cardiac involvement in the case of pathogenic variants on exon 9 isoform C TBX1 gene.

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