Results 91 to 100 of about 5,781 (202)

An Outflow Tract Myocardium‐Specific Enhancer at the Sema3c Locus During Heart Development

Genes to Cells, Volume 31, Issue 4, July 2026.
Focusing on an OFT‐specific differentially accessible region, in the present study, we defined a distal OFT myocardial enhancer whose activity depends on GATA binding sites. This enhancer provides insight into the mechanisms underlying spatially restricted Sema3c expression involved in OFT development.
Yunce Wang, Yukihiro Harada, Tomoe Ueyama, Daiki Seya, Osamu Nakagawa, Teruhisa Kawamura   +5 more
wiley   +1 more source

Human Mutations in Mouse Tbx1.

, 2014
A: The position of the three known mutations in TBX1 in human patients are shown with respect to its domain structure [19]–[21]. The three mutations lie within the region that was cloned to generate the GST-TBX1 fusion protein.
Raquel Castellanos (559734), Ales Cvekl (104250), Bernice E. Morrow (509741), Qing Xie (104232), Deyou Zheng (7943)   +4 more
core   +1 more source

tbx1 expression and heart looping defects in tbx1^−/− embryos.

, 2013
(A) cmlc2 ISH in tbx1−/− mutants and WT siblings at specification (14 somites), fusion (21 somites), linear heart tube (24 hpf), jogging (30–36 hpf) stages.
Priya Choudhry (393639), Nikolaus S. Trede (393640)   +1 more
core   +1 more source

Investigating a Tbx1 and Pax9 genetic interaction during cardiovascular development [PDF]

, 2015
PHD ThesisCongenital cardiovascular malformations (CCVM) are the most common type of birth defect in humans and can be life threatening for the newborn. 22q11 deletion syndrome (22q11DS) is one of the most common CCVM in humans, with patients presenting ...
Briones Leon, Jose Alberto
core   +1 more source

Familial hypertrophic cardiomyopathy associated with TBX1 variation

European Journal of Medical Genetics
Hypertrophic cardiomyopathy (HCM) is a common genetic cardiovascular disease characterized by significant genetic heterogeneity. While the T-box transcription factor 1 (TBX1) gene is known to cause congenital cardiovascular defects, it has not been previously associated with HCM.Whole-exome sequencing (WES) was performed to identify causative gene ...
Jie Zhang, Yafei Deng, Yaxin Huang, Daoheng Hu, Haiyan Wu, Tao Lv, Weng Yang, Lilan Wan, Fang Liu, Jilin Hu   +9 more
openaire   +2 more sources

Tbx1 regulates population, proliferation and cell fate determination of otic epithelial cells [PDF]

, 2007
The T-box transcription factor Tbx1 is required for inner ear morphogenesis. Tbx1 null mutants have a small otocyst that fails to grow and remodel and does not give rise to the vestibular and cochlear apparata.
Viola A, ILLINGWORTH, ELISABETH ANNE, Viola, Antonella, Lindsay-Illingworth, Elizabeth A., Gerken C, Zhang, Zhen, Z. Zhang, Xu, Huansheng, Xu H, A. Viola, BALDINI, ANTONIO, Zhang Z, Baldini A., E. A. Lindsay Illingworth, Gerken, Claudia P., C. P. Gerken, H. S. Xu   +16 more
core   +1 more source

The TBX1 Transcription Factor in Cardiac Remodeling After Myocardial Infarction [PDF]

, 2016
Introduction and objectives: The transcription factor TBX1 plays an important role in the embryonic development of the heart. Nothing is known about its involvement in myocardial remodeling after acute myocardial infarction (AMI) and whether its ...
Fernandez del Palacio, Maria J, Pascual Figal, Domingo A., Navarro-Peñalver, Marina, Lax Pérez, Antonio Manuel, Asensio Lopez, Maria del Carmen, Perez Martinez, Maria T, Caballero, Luis, Gimeno Blanes, Juan R, Sanchez Mas, Jesus   +8 more
core   +1 more source

A regulatory relationship between Tbx1 and FGF signaling during tooth morphogenesis and ameloblast lineage determination [PDF]

, 2008
The Tbx1 gene is a transcriptional regulator involved in the DiGeorge syndrome, which affects normal facial and tooth development. Several clinical reports point to a common enamel defect in the teeth of patients with DiGeorge syndrome.
Rice, David P.C., Tucker, A S, Rice, D P C, De Bari, C, Cobourne, M T, Rice, David P. C., De Bari, Cosimo, Tucker, Abigail S., Cobourne, Martyn T., Cobourne, Martyn T.; id_orcid, Mitsiadis, Thimios A., Tucker, Abigail S.; id_orcid, Mitsiadis, T A   +12 more
core   +1 more source

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

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   +1 more source

Expression, function, and regulation of the embryonic transcription factor TBX1 in parathyroid tumors

, 2017
Transcription factors active in embryonic parathyroid cells can be maintained in adult parathyroids and be involved in tumorigenesis. TBX1, the candidate gene of 22q11.2-DiGeorge syndrome, which includes congenital hypoparathyroidism, is involved in ...
Filomena Cetani, Valentina Vaira, Leonardo Vicentini, V. Guarnieri, L. Vicentini, Sabrina Corbetta, G. Bulfamante, V. Vaira, Vito Guarnieri, Stefano Ferrero, F. Cetani, P. Creo, E. Beretta, C. Verdelli, S. Ferrero, Laura Avagliano, S. Corbetta, Chiara Verdelli, A. Scillitani, Pasquale Creo, L. Avagliano, Edoardo Beretta, Gaetano Pietro Bulfamante, Alfredo Scillitani   +23 more
core   +1 more source