Results 51 to 60 of about 8,343 (220)

NK4 antagonizes Tbx1/10 to promote cardiac versus pharyngeal muscle fate in the ascidian second heart field. [PDF]

PLoS Biology, 2013
The heart and head muscles share common developmental origins and genetic underpinnings in vertebrates, including humans. Parts of the heart and cranio-facial musculature derive from common mesodermal progenitors that express NKX2-5, ISL1, and TBX1. This
Wei Wang, Florian Razy-Krajka, Eric Siu, Alexandra Ketcham, Lionel Christiaen   +4 more
doaj   +1 more source

Mutation Analysis of TBX1 in Children with Conotruncal Heart Anomalies [PDF]

The Indian Journal of Pediatrics, 2015
To the Editor: Conotruncal heart anomalies (CTA) are structural malformations involving the outflow tract. While the exact incidence of CTA in India is not known, it remains the most common type of structural birth defect with a major impact on pediatric morbidity and mortality.
Teena, Koshy, Vettriselvi, Venkatesan, Kalpana, Gowrishankar, Venkatachalam, Perumal, Shruthi, Mohan, Solomon Franklin Durairaj, Paul   +5 more
openaire   +2 more sources

Rebalancing gene haploinsufficiency in vivo by targeting chromatin

Nature Communications, 2016
Deficit in transcription factor Tbx1 causes heart defects in humans and mice. Here the authors show that Tbx1 regulates gene expression by recruiting histone methyltransferases that affect chromatin marks, and that a drug inhibiting histone demethylation
Filomena Gabriella Fulcoli, Monica Franzese, Xiangyang Liu, Zhen Zhang, Claudia Angelini, Antonio Baldini   +5 more
doaj   +1 more source

Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population [PDF]

, 2013
Background and Objective: Nonsyndromic cleft lip and/or palate (NSCL/P) is a complex disease associated with both genetic and environmental factors. One strategy for identifying of possible NSCL/P genetic causes is to evaluate polymorphic variants in ...
Aquino, Sibele Nascimento de, Brito, Luciano Abreu, Bufalino, Andreia, Della Coletta, Ricardo, Graner, Edgard, Martelli Júnior, Hercílio, Paranaíba, Lívia M. R., Passos Bueno e, Maria Rita dos Santos, Swerts, Mário Sérgio Oliveira   +8 more
core   +1 more source

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot [PDF]

, 2010
Tetralogy of Fallot (TOF), the most frequent cyanotic congenital heart disease, is associated with a wide range of intra- and extracardiac phenotypes. We investigated genotype-phenotype correlation in a large cohort of 230 unselected patients with TOF ...
Hofbeck, M, Hoyer, J, Kaulitz, R, Koch, A, Rauch, A, Rauch, R, Singer, H, Trautmann, U, Zink, S, Zweier, C   +9 more
core   +1 more source

Case Report: Unmanipulated Matched Sibling Donor Hematopoietic Cell Transplantation In TBX1 Congenital Athymia: A Lifesaving Therapeutic Approach When Facing a Systemic Viral Infection

Frontiers in Immunology, 2022
Congenital athymia can present with severe T cell lymphopenia (TCL) in the newborn period, which can be detected by decreased T cell receptor excision circles (TRECs) on newborn screening (NBS). The most common thymic stromal defect causing selective TCL
Maria Chitty-Lopez, Carla Duff, Gretchen Vaughn, Jessica Trotter, Hector Monforte, Hector Monforte, David Lindsay, David Lindsay, Elie Haddad, Elie Haddad, Michael D. Keller, Benjamin R. Oshrine, Jennifer W. Leiding, Jennifer W. Leiding   +13 more
doaj   +1 more source

A Functionally Conserved Enhancer is Critical for PGC1A Expression and Thermogenesis in Brown Fat

Advanced Science, EarlyView.
An evolutionarily conserved enhancer controls PGC1A expression and thermogenic activation in brown adipose tissue. Integrative multi‐omics analyses identify two BAT‐specific enhancers, with PGC1A‐En1 functioning as the dominant regulatory element that maintains thermogenic capacity across species.
Duo Su, Haosen Yang, Xiaokai Li, Tingting Jiang, Siyuan Zhan, Tao Zhong, Jiazhong Guo, Yan Wang, Li Li, Hongping Zhang, Linjie Wang   +10 more
wiley   +1 more source

Ash2l interacts with Tbx1 and is required during early embryogenesis [PDF]

Experimental Biology and Medicine, 2010
TBX1 encodes a DNA binding transcription factor that is commonly deleted in human DiGeorge syndrome and plays an important role in heart development. Mechanisms of Tbx1 function, such as Tbx1 interacting regulatory proteins and transcriptional target specificity, are largely unknown.
Jason Z, Stoller, Li, Huang, Cheryl C, Tan, Facan, Huang, Diane D, Zhou, Jifu, Yang, Bruce D, Gelb, Jonathan A, Epstein   +7 more
openaire   +2 more sources

Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome

Neural Plasticity, 2016
The patients with DiGeorge syndrome (DGS), caused by deletion containing dozens of genes in chromosome 22, often carry cardiovascular problem and hearing loss associated with chronic otitis media.
Jiaofeng Chen, Xue Zhang, Jie Li, Chenmeng Song, Yichang Jia, Wei Xiong   +5 more
doaj   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source