Results 51 to 60 of about 4,765 (175)

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

Tbx1 regulation of myogenic differentiation in the limb and cranial mesoderm [PDF]

Developmental Dynamics, 2006
AbstractThe T‐box transcription factor Tbx1 has been implicated in DiGeorge syndrome, the most frequent syndrome due to a chromosomal deletion. Gene inactivation of Tbx1 in mice results in craniofacial and branchial arch defects, including myogenic defects in the first and second branchial arches. A T‐box binding site has been identified in the Xenopus
A. Dastjerdi, L. Robson, R. Walker, J. Hadley, Z. Zhang, M. Rodriguez Niedenfuhr, P. Ataliotis, BALDINI, ANTONIO, P. Scambler, P. Francis West   +9 more
openaire   +4 more sources

Tbx2a is required for specification of endodermal pouches during development of the pharyngeal arches. [PDF]

PLoS ONE, 2013
Tbx2 is a member of the T-box family of transcription factors essential for embryo- and organogenesis. A deficiency in the zebrafish paralogue tbx2a causes abnormalities of the pharyngeal arches in a p53-independent manner.
Hang Nguyen Thi Thu, Steven Fong Haw Tien, Siau Lin Loh, Jimmy So Bok Yan, Vladimir Korzh   +4 more
doaj   +1 more source

A Mechanistic Review of Environmental Stressor to Decode Their Effect on Congenital Malformations: A Developmental Toxicity

Journal of Biochemical and Molecular Toxicology, Volume 40, Issue 8, August 2026.
Environmental toxicants may disrupt developmental pathways via strong molecular docking interactions with hub FGF proteins (FGF9 and FGF4) like dibenzo‐p‐dioxin (−7.2 kcal/mol) at the ASN146 residue of FGF9, driving congenital malformations as revealed by PPI networks and toxicity profiling.
Adarsh Kumar Shukla, Rashmi Mahajan, Anuj Kumar Tyagi, Kamendra Swaroop   +3 more
wiley   +1 more source

Early thyroid development requires a Tbx1–Fgf8 pathway

Developmental Biology, 2009
The thyroid develops within the pharyngeal apparatus from endodermally-derived cells. The many derivatives of the pharyngeal apparatus develop at similar times and sometimes from common cell types, explaining why many syndromic disorders express multiple birth defects affecting different structures that share a common pharyngeal origin. Thus, different
Lania G, Zhang Z, Huynh T, Caprio C, Moon AM, Vitelli F, Baldini A   +6 more
openaire   +4 more sources

Screening for Mutations in the TBX1 Gene on Chromosome 22q11.2 in Schizophrenia [PDF]

Genes, 2016
A higher-than-expected frequency of schizophrenia in patients with 22q11.2 deletion syndrome suggests that chromosome 22q11.2 harbors the responsive genes related to the pathophysiology of schizophrenia. The TBX1 gene, which maps to the region on chromosome 22q11.2, plays a vital role in neuronal functions.
Lieh-Yung Ping, Yang-An Chuang, Shih-Hsin Hsu, Hsin-Yao Tsai, Min-Chih Cheng   +4 more
openaire   +2 more sources

Epigenetic silencing of TBX1 inactivates the Hippo pathway to potentiate chemoresistance in esophageal squamous cell carcinoma

Cell Death and Disease
Neoadjuvant chemotherapy (NAC) is a key component of the standard treatment regimen for patients with advanced esophageal squamous cell carcinoma (ESCC); however, a substantial proportion of patients fail to benefit from NAC because of intrinsic or ...
Zhong Xu, Gang Ma, Ying Shen, Li Tan, Xuejuan Sun, Lei Peng, Weiyan Peng, Lin Ye   +7 more
doaj   +1 more source

Craniofacial Phenotypes and Genetics of DiGeorge Syndrome

Journal of Developmental Biology, 2022
The 22q11.2 deletion is one of the most common genetic microdeletions, affecting approximately 1 in 4000 live births in humans. A 1.5 to 2.5 Mb hemizygous deletion of chromosome 22q11.2 causes DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS).
Noriko Funato
doaj   +1 more source

Increased Prevalence of Rare Copy Number Variants in Australian Children With Fetal Alcohol Spectrum Disorder: Experience in a State‐Wide Diagnostic Service

Alcohol, Clinical and Experimental Research, Volume 50, Issue 8, August 2026.
Of 175 Australian children with fetal alcohol spectrum disorder (FASD), 90% had genetic testing, and of those, 24% had a rare copy number variant (CNV). Genetic testing supports the FASD diagnostic process and may reveal additional diagnoses or sources of genetic vulnerability to FASD.
Suzy Byrnes, Felicity Collins, Elizabeth Elliott   +2 more
wiley   +1 more source

"Mechanisms of transcriptional regulation by Tbx1" [PDF]

, 2010
Deletion 22q11.2 syndrome (22q11DS) is the most common microdeletion syndrome in man, with an incidence of approximately 1:4000 live births (1); the major malformations include congenital heart defects such as truncus arteriosus (TA) and interrupted aortic arch type B (IAA-B), hypo/aplasia of the parathyroid and thymus glands, and craniofacial ...
openaire   +1 more source