Results 111 to 120 of about 5,428 (208)

Oculo-auriculo-vertebral spectrum with myopathy and velopharyngeal insufficiency. A case report with a non-branchiomeric muscle biopsy

La Pediatria Medica e Chirurgica, 2016
In the present paper we report on a case of oculo-auriculo-vertebral spectrum presenting fluorescence in situ hybridization and comparative genomic hybridization tests negative, hypotonia of some branchiomeric muscles (with velo-pharyngeal insufficiency,
Giovanni Murialdo, Attilia Piazzi, Giuseppe Badolati, Enrico Calcagno, Agostino Berio   +4 more
doaj   +1 more source

Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer [PDF]

, 2003
Haploinsufficiency of Tbx1 is likely a major determinant of cardiac and craniofacial birth defects associated with DiGeorge syndrome. Although mice deficient in Tbx1 exhibit pharyngeal and aortic arch defects, the developmental program and mechanisms ...
Hu, T. H., Yamagishi, C., Conway, S. J., Srivastava, D., Yamagishi, H., Kume, T., 胡天惠, Maeda, J., McAnally, J., Meyers, E. N.   +9 more
core  

Tbx1 regulates population, proliferation and cell fate determination of otic epithelial cells

, 2007
The T-box transcription factor Tbx1 is required for inner ear morphogenesis. Tbx1 null mutants have a small otocyst that fails to grow and remodel and does not give rise to the vestibular and cochlear apparata.
Viola A, ILLINGWORTH, ELISABETH ANNE, Viola, Antonella, Lindsay-Illingworth, Elizabeth A., Gerken C, Zhang, Zhen, Z. Zhang, Xu, Huansheng, Xu H, A. Viola, BALDINI, ANTONIO, Zhang Z, Baldini A., E. A. Lindsay Illingworth, Gerken, Claudia P., C. P. Gerken, H. S. Xu   +16 more
core   +1 more source

Bulbous arteriosus defects in tbx1^−/− embryos.

, 2013
Dissected hearts from 72 hpf embryos showing the BA region (A, D) outlined in white, with the bidirectional arrowheads in black and red showing the length and width of BA, respectively. (B, E) The corresponding images showing staining for Alcama antibody
Priya Choudhry (393639), Nikolaus S. Trede (393640)   +1 more
core   +1 more source

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

Tbx1 regulates progenitor cell proliferation in the dental epithelium by modulating Pitx2 activation of p21

, 2010
Tbx1(-/-) mice present with phenotypic effects observed in DiGeorge syndrome patients however, the molecular mechanisms of Tbx1 regulating craniofacial and tooth development are unclear.
S. Florez, Amen, Melanie, Melanie Amen, Z. Skobe, T. Huynh, B. A. Amendt, BALDINI, ANTONIO, Cao, Huojun, Skobe, Ziedonis, H. J. Cao, M. Amen, Huynh, Tuong, Amendt, Brad A., Huojun Cao, Ziedonis Skobe, Antonio Baldini, Brad A. Amendt, Sergio Florez, Florez, Sergio, Tuong Huynh   +19 more
core   +1 more source

Regulation of Sema3c and the Interaction between Cardiac Neural Crest and Second Heart Field during Outflow Tract Development

Scientific Reports, 2017
The cardiac neural crest cells (cNCCs) and the second heart field (SHF) play key roles in development of the cardiac outflow tract (OFT) for establishment of completely separated pulmonary and systemic circulations in vertebrates. A neurovascular guiding
Kazuki Kodo, Shinsuke Shibata, Sachiko Miyagawa-Tomita, Sang-Ging Ong, Hiroshi Takahashi, Tsutomu Kume, Hideyuki Okano, Rumiko Matsuoka, Hiroyuki Yamagishi   +8 more
doaj   +1 more source

A fate map of Tbx1 expressing cells reveals heterogeneity in the second cardiac field

, 2007
Tbx1 is required for the expansion of second heart field (SHF) cardiac progenitors destined to the outflow tract of the heart. Loss of Tbx1 causes heart defects in humans and mice.
BALDINI, ANTONIO, L. Chen, P. Terrell, T. Huynh   +3 more
core   +1 more source

Identification of downstream genetic pathways of Tbx1 in the second heart field

, 2008
Tbx1, a T-box transcription factor, and an important gene for velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) in humans, causes outflow tract (OFT) heart defects when inactivated in the mouse.
Nowotschin, Sonja, Lipner, Shari, Bondarev, Alexei, Liao, Jun, Aggarwal, Vimla S., Morrow, Bernice E.   +5 more
core   +1 more source

Tbx1 and Wnt5a interact genetically.

, 2012
(A–A′) Extracardiac phenotypes in Wnt5a−/− embryos included cleft palate, cleft lip, small thymus, truncated tail and truncated limbs at E18.5 (A, n = 5).
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