Results 101 to 110 of about 5,584 (206)

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

The 22q11.2 Deletion Syndrome: A Gene Dosage Perspective

The Scientific World Journal, 2006
The 22q11.2 deletion/DiGeorge syndrome is a relatively common “genomic” disorder that results from heterozygous deletion of a 3-Mbp segment of chromosome 22.
Antonio Baldini
doaj   +1 more source

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

Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus

BMC Medical Genetics, 2011
Background Conotruncal heart defects (CTDs) are present in 75-85% of patients suffering from the 22q11.2 deletion syndrome. To date, no consistent phenotype has been consistently correlated with the 22q11.2 deletions. Genetic studies have implicated TBX1
Xu Yue-Juan, Wang Jian, Xu Rang, Zhao Peng-Jun, Wang Xi-Ke, Sun Heng-Juan, Bao Li-Ming, Shen Jie, Fu Qi-Hua, Li Fen, Sun Kun   +10 more
doaj   +1 more source

TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy

The Turkish Journal of Pediatrics, 2007
Fallot tetralogy (FT) is the most frequently observed conotruncal heart defect (CTHD) and accompanies 15% of the 22q11 deletion syndromes, DiGeorge/ velocardiofacial (DGS/VCFS) syndromes.
Feryal Cabuk, Halil G Karabulut, Timur Tuncali, Selmin Karademir, Mithat Bozdayi, Ajlan Tükün   +5 more
doaj  

Vegfr3 and Tbx1 Interact in Cardiac Morphogenesis

Journal of Cardiovascular Development and Disease
Gene inactivation in model organisms has identified numerous genes and signaling pathways involved in mammalian cardiac outflow tract (OFT) development.
Stefania Martucciello, Marchesa Bilio, Sara Cioffi, Ilaria Aurigemma, Mariangela Cavallaro, Antonio Baldini, Elizabeth Illingworth   +6 more
doaj   +1 more source

Tbx1 interacts with Baf60a in mouse embryo tissues.

, 2012
(A) Co-IP experiment showing interaction of the Tbx1 and Baf60a endogenous proteins in embryo tissues. The first lane on the left contains nuclear extracts from E9.5 WT embryos.
Li Chen (5749), Rosa Ferrentino (177859), Stefania Martucciello (177865), Elizabeth A. Illingworth (177870), Antonio Baldini (177873), Filomena Gabriella Fulcoli (177854)   +5 more
core   +1 more source

Analysis of TBX1 Variation in Patients with Psychotic and Affective Disorders

Molecular Medicine, 2007
A significant portion of patients with 22q11 deletion syndrome (22q11DS) develop psychiatric disorders, including schizophrenia and other psychotic and affective symptoms, and the responsible gene/s are assumed to also play a significant role in the etiology of nonsyndromic psychiatric disease.
Birgit H, Funke, Todd, Lencz, Christine T, Finn, Pamela, DeRosse, G David, Poznik, Alex M, Plocik, John, Kane, John, Rogus, Anil K, Malhotra, Raju, Kucherlapati   +9 more
openaire   +2 more sources

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  

Regulatory effect of transcription factor TBX1 on osteogenic differentiation of human dental pulp stem cells [PDF]

Kouqiang yixue
Objective To investigate the regulatory effect of T-box transcription factor 1 (TBX1) on the osteogenic differentiation capacity of human dental pulp stem cells (hDPSCs) and its underlying mechanism.
WANG Mingxi, GAO Shan, LI Guoqing, TANG Chunbo
doaj