Results 101 to 110 of about 5,848 (206)

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

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1362-1371, June 2026.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome.

, 2010
22q11 deletion syndrome (22q11DS) is characterised by aberrant development of the pharyngeal apparatus and the heart with haploinsufficiency of the transcription factor TBX1 being considered the major underlying cause of the disease.
Pearce, K., Szumska, D., Scambler, P.J., Roberts, C., Rochais, Francesca, Papangeli, I., Bhattacharya, S., van Bueren, K.L., Kelly, R.G., Calmont, A.   +9 more
core   +1 more source

A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome

Clinical Diabetes and Endocrinology, 2019
Background The heterozygous microdeletion of chromosome 22q11.2 results in a spectrum of disorders, including DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS), with phenotypic features that can include the classic triad of congenital heart ...
Raad A. Haddad, Gregory A. Clines, Jennifer A. Wyckoff   +2 more
doaj   +1 more source

Gene expression profiling in the developing secondary palate in the absence of Tbx1 function

BMC Genomics, 2018
Background Microdeletion of chromosome 22q11 is associated with significant developmental anomalies, including disruption of the cardiac outflow tract, thymic/parathyroid aplasia and cleft palate.
Maria Zoupa, Guilherme Machado Xavier, Stephanie Bryan, Ioannis Theologidis, Matthew Arno, Martyn T. Cobourne   +5 more
doaj   +1 more source

TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome

, 2015
T-box transcription factor TBX1 is the major candidate gene for 22q11.2 deletion syndrome (22q11.2DS, DiGeorge syndrome/Velo-cardio-facial syndrome), whose phenotypes include craniofacial malformations such as dental defects and cleft palate.
BALDINI, ANTONIO, Cao, Huojun, Gao, Shan, Yu, Wenjie, Margolis, Henry C, Bidlack, Felicitas B, Amendt, Brad A., Li, Xiao, Moreno, Myriam, Eliason, Steven, Margolis HC, Bidlack FB, Cao H, Eliason S, Li X, Yu W, Baldini A, Moreno M, Amendt BA, Gao S   +19 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

Mesodermal Tbx1 is required for patterning the proximal mandible in mice

Developmental Biology, 2010
Defects in the lower jaw, or mandible, occur commonly either as isolated malformations or in association with genetic syndromes. Understanding its formation and genetic pathways required for shaping its structure in mammalian model organisms will shed light into the pathogenesis of malformations in humans.
Aggarwal, Vimla S., Carpenter, Courtney, Freyer, Laina, Liao, Jun, Petti, Marilena, Morrow, Bernice E.   +5 more
openaire   +2 more sources

A phenotypic rescue approach identifies lineage regionalization defects in a mouse model of DiGeorge syndrome

Disease Models & Mechanisms, 2022
Gabriella Lania, Monica Franzese, Noritaka Adachi, Marchesa Bilio, Gemma Flore, Annalaura Russo, Erika D'Agostino, Claudia Angelini, Robert G. Kelly, Antonio Baldini   +9 more
doaj   +1 more source