Results 91 to 100 of about 4,659 (176)

Essential role of the Crk family-dosage in DiGeorge-like anomaly and metabolic homeostasis

Life Science Alliance, 2020
This study presents evidence that CRK/CRKL and TBX1 may share pathways that participate in organogenesis affected in DiGeorge syndrome (22q11.2DS) via global control of gene expression and metabolism CRK and CRKL ( CRK-like ) encode adapter proteins with
Akira Imamoto, Sewon Ki, Leiming Li, Kazunari Iwamoto, Venkat Maruthamuthu, John Devany, Ocean Lu, Tomomi Kanazawa, Suxiang Zhang, Takuji Yamada, Akiyoshi Hirayama, Shinji Fukuda, Yutaka Suzuki, Mariko Okada   +13 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

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

Modification of Cardiac Phenotype in Tbx1 Hypomorphic Mice [PDF]

, 2016
Congenital heart disease is still the leading cause of death within the first year of life. Our lab forces on understanding the morphology of congenital heart disease. Outflow tract anomalies, including abnormal alignment or septation, account for 30 % of all congenital heart disease.
Takatoshi Tsuchihashi, Reina Ishizaki, Jun Maeda, Akimichi Shibata, Keiko Uchida, Deepak Srivastava, Hiroyuki Yamagishi   +6 more
openaire   +1 more source

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

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

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

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

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  

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