Cargando…

Identification of TBX2 and TBX3 variants in patients with conotruncal heart defects by target sequencing

BACKGROUND: Conotruncal heart defects (CTDs) are heterogeneous congenital heart malformations that result from outflow tract dysplasia; however, the genetic determinants underlying CTDs remain unclear. Increasing evidence demonstrates that dysfunctional TBX2 and TBX3 result in outflow tract malforma...

Descripción completa

Detalles Bibliográficos
Autores principales:	Xie, Huilin, Zhang, Erge, Hong, Nanchao, Fu, Qihua, Li, Fen, Chen, Sun, Yu, Yu, Sun, Kun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Primary Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142335/ https://www.ncbi.nlm.nih.gov/pubmed/30223900 http://dx.doi.org/10.1186/s40246-018-0176-0

Ejemplares similares

Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation
por: Jiang, Xuechao, et al.
Publicado: (2021)

Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal Defect
por: Xie, Huilin, et al.
Publicado: (2019)

Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus
por: Xu, Yue-Juan, et al.
Publicado: (2011)

Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion
por: Xu, Yue-Juan, et al.
Publicado: (2014)

A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication
por: Hong, Nanchao, et al.
Publicado: (2018)

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
por: Zhao, Yingjie, et al.
Publicado: (2023)

A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity
por: Xu, Yuejuan, et al.
Publicado: (2017)

Tbx2 and Tbx3 Regulate the Dynamics of Cell Proliferation during Heart Remodeling
por: Ribeiro, Inês, et al.
Publicado: (2007)

Lack of Genetic Interaction between Tbx18 and Tbx2/Tbx20 in Mouse Epicardial Development
por: Greulich, Franziska, et al.
Publicado: (2016)

TBX2 and TBX3: The special value for anticancer drug targets
por: Lu, Juan, et al.
Publicado: (2010)

Defective Vagal Innervation in Murine Tbx1 Mutant Hearts
por: Calmont, Amélie, et al.
Publicado: (2018)

Lack of Genetic Interaction between Tbx20 and Tbx3 in Early Mouse Heart Development
por: Gavrilov, Svetlana, et al.
Publicado: (2013)

Novel mutations of the SRF gene in Chinese sporadic conotruncal heart defect patients
por: Mengmeng, Xu, et al.
Publicado: (2020)

Multiple Roles and Interactions of Tbx4 and Tbx5 in Development of the Respiratory System
por: Arora, Ripla, et al.
Publicado: (2012)

Tbx2 and Tbx3 induce atrioventricular myocardial development and endocardial cushion formation
por: Singh, Reena, et al.
Publicado: (2011)

Tbx4 and Tbx5 acting in connective tissue are required for limb muscle and tendon patterning
por: Hasson, Peleg, et al.
Publicado: (2010)

Establishment of the TBX-code reveals aberrantly activated T-box gene TBX3 in Hodgkin lymphoma
por: Nagel, Stefan, et al.
Publicado: (2021)

Identification of a novel non-sense mutation in TBX5 gene in pediatric patients with congenital heart defects
por: Khatami, Mehri, et al.
Publicado: (2018)

TBX15/miR-152/KIF2C pathway regulates breast cancer doxorubicin resistance via promoting PKM2 ubiquitination
por: Jiang, Cheng-Fei, et al.
Publicado: (2021)

TBX3 represses TBX2 under the control of the PRC2 complex in skeletal muscle and rhabdomyosarcoma
por: Oh, Teak-Jung, et al.
Publicado: (2019)

A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness
por: Alghamdi, Malak, et al.
Publicado: (2019)

TBX4 variants and pulmonary diseases: getting out of the ‘Box’
por: Haarman, Meindina G., et al.
Publicado: (2020)

The overexpression and clinical significance of TBX15 in human gliomas
por: Yan, Dongming, et al.
Publicado: (2023)

Tbx20 Is an Essential Regulator of Embryonic Heart Growth in Zebrafish
por: Just, Steffen, et al.
Publicado: (2016)

Tbx Protein Level Critical for Clock-Mediated Somite Positioning Is Regulated through Interaction between Tbx and Ripply
por: Wanglar, Chimwar, et al.
Publicado: (2014)

Cell lineage of timed cohorts of Tbx6-expressing cells in wild-type and Tbx6 mutant embryos
por: Concepcion, Daniel, et al.
Publicado: (2017)

Genome Sequencing of the Japanese Eel (Anguilla japonica) for Comparative Genomic Studies on tbx4 and a tbx4 Gene Cluster in Teleost Fishes
por: Chen, Weiwei, et al.
Publicado: (2019)

Placental DNA Methylation Abnormalities in Prenatal Conotruncal Heart Defects
por: Liu, Jingjing, et al.
Publicado: (2022)

CORRIGENDUM FOR “A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness”
Publicado: (2020)

Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4
por: Hernandez-Gonzalez, Ignacio, et al.
Publicado: (2020)

Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein
por: Böhm, Johann, et al.
Publicado: (2008)

TBX21 predicts prognosis of patients and drives cancer stem cell maintenance via the TBX21–IL-4 pathway in lung adenocarcinoma
por: Zhao, Shuangtao, et al.
Publicado: (2018)

Mild decrease in TBX20 promoter activity is a potentially protective factor against congenital heart defects in the Han Chinese population
por: Yu, Li-Wei, et al.
Publicado: (2016)

The Tbx20-TLE interaction is essential for the maintenance of the second heart field
por: Edwards, Whitney, et al.
Publicado: (2023)

Discovery of TBX20 as a Novel Gene Underlying Atrial Fibrillation
por: Li, Ning, et al.
Publicado: (2023)

Dorsoventral Patterning of the Mouse Coat by Tbx15
por: Candille, Sophie I, et al.
Publicado: (2004)

TBX2, a Novel Regulator of Labour
por: Fernando, Febilla, et al.
Publicado: (2021)

The Role of Tbx20 in Cardiovascular Development and Function
por: Chen, Yuwen, et al.
Publicado: (2021)

Development and transdifferentiation into inner hair cells require Tbx2
por: Bi, Zhenghong, et al.
Publicado: (2022)

A divergent Tbx6-related gene and Tbx6 are both required for neural crest and intermediate mesoderm development in Xenopus
por: Callery, Elizabeth M., et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_q71068o8jreb3bdp21hqmdpum0