Results 81 to 90 of about 8,343 (220)

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

Precise Construction of an Antimicrobial Peptide Targeting Bacterial Cell Membranes Derived From Natural Peptides

Advanced Science, Volume 13, Issue 17, 23 March 2026.
An AMP (P 3‐3R‐8I) based on natural peptides, which can target bacterial cell membranes, was precisely constructed via amino acid mutation. P 3‐3R‐8I exhibits antibacterial capability which could be attributed to the ability of P 3‐3R‐8I to quickly penetrate bacterial cell membranes and then to bind to bacterial DNA.
Jiaqi Huang, Bohao Liu, Xingzhuo Zhu, Deqian Qiao, Sizhe Chen, Xiaoyan Zeng, Qingqing Yang, Zihuan Wei, Yinjuan Huang, Jizhao Wang, Guangjian Zhang, Qiuyu Gong   +11 more
wiley   +1 more source

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

Multiple Recurrent Copy Number Variations (CNVs) in Chromosome 22 Including 22q11.2 Associated with Autism Spectrum Disorder

Pharmacogenomics and Personalized Medicine, 2022
Safiah Alhazmi,1 Maryam Alzahrani,1 Reem Farsi,1 Mona Alharbi,1 Khloud Algothmi,1 Najla Alburae,1 Magdah Ganash,1 Sheren Azhari,1 Fatemah Basingab,1 Asma Almuhammadi,1 Amany Alqosaibi,2 Heba Alkhatabi,3,4 Aisha Elaimi,3,4 Mohammed Jan,5 Hesham M ...
Alhazmi S, Alzahrani M, Farsi R, Alharbi M, Algothmi K, Alburae N, Ganash M, Azhari S, Basingab F, Almuhammadi A, Alqosaibi A, Alkhatabi H, Elaimi A, Jan M, Aldhalaan HM, Alrafiah A, Alrofaidi A   +16 more
doaj  

Tbx1 and Jag1 act in concert to modulate the fate of neurosensory cells of the mouse otic vesicle

Biology Open, 2017
The domain within the otic vesicle (OV) known as the neurosensory domain (NSD), contains cells that will give rise to the hair and support cells of the otic sensory organs, as well as the neurons that form the cochleovestibular ganglion (CVG).
Stephania Macchiarulo, Bernice E. Morrow
doaj   +1 more source

A novel MMP13 frameshift variant causes short stature via enhanced MMP13–HSPA5 interaction and activated endoplasmic reticulum stress

Clinical and Translational Medicine, Volume 16, Issue 3, March 2026.
The MMP13 R458fs protein is retained in the ER and exhibits enhanced binding to HSPA5, which promotes the dissociation of IRE1α, ATF6, and PERK. This triggers ER stress, leading to increased chondrocyte apoptosis and abnormal expansion of the growth plate hypertrophic zone, ultimately impairing long bone growth and causing short stature.
Huifei Lu, Xin Feng, Suping Dai, Yilin Zhu, Ke Yuan, Yonghua Chen, Jianfang Zhu, Yanlan Fang, Qingfeng Yan, Chunlin Wang   +9 more
wiley   +1 more source

Tbx1 and Foxi3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome.

PLoS Genetics, 2019
We investigated whether Tbx1, the gene for 22q11.2 deletion syndrome (22q11.2DS) and Foxi3, both required for segmentation of the pharyngeal apparatus (PA) to individual arches, genetically interact. We found that all Tbx1+/-;Foxi3+/- double heterozygous
Erica Hasten, Bernice E Morrow
doaj   +1 more source

Transcriptional control in cardiac progenitors: Tbx1 interacts with the BAF chromatin remodeling complex and regulates Wnt5a.

PLoS Genetics, 2012
Mutations of the Wnt5a gene, encoding a ligand of the non-canonical Wnt pathway, and the Ror2 gene, encoding its receptor, have been found in patients with cardiac outflow tract defects. We found that Wnt5a is expressed in the second heart field (SHF), a
Li Chen, Filomena Gabriella Fulcoli, Rosa Ferrentino, Stefania Martucciello, Elizabeth A Illingworth, Antonio Baldini   +5 more
doaj   +1 more source

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

Stem Cell Research, 2020
The human induced pluripotent stem cell (iPSC) line YAHKMUi001-A was derived from the dermal fibroblasts of a patient with Tetralogy of Fallot (TOF), with a mutation in the TBX1 gene (c.928G > A). The skin fibroblasts were obtained from a 4-year-old boy,
Shen Han, Ya-yong Zhang, Ming-yao Meng, Zong-liu Hou, Ping Meng, Yi-yi Zhao, Hui Gao, Jian Tang, Zu Liu, Li-li Yang, Li-hong Jiang, Ya-xiong Li   +11 more
doaj   +1 more source