Results 121 to 130 of about 5,848 (206)

Partial rescue of the Tbx1 mutant heart phenotype by Fgf8: Genetic evidence of impaired tissue response to Fgf8

open access: yes, 2010
Tbx1 is the candidate gene of DiGeorge syndrome and is required in humans and mice for the development of the cardiac outflow tract (OFT) and aortic arch arteries.
F. Vitelli   +11 more
core   +1 more source

SELEX-Selection of specific oligonucleotides bound to GST-TBX1.

open access: yes, 2014
A: A pipeline illustrating the SELEX method is shown. The dsDNA was generated by PCR of the selected oligonucleotides at each found and incubated with GST-TBX1. A total of 6 rounds of selection was performed.
Raquel Castellanos (559734)   +4 more
core   +1 more source

Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome

open access: yesNature Communications
Neurodevelopmental disorders are thought to arise from intrinsic brain abnormalities. Alternatively, they may arise from disrupted crosstalk among tissues.
Tae-Yeon Eom   +21 more
doaj   +1 more source

Generation of the ES cell line inducible system mES-Tbx1TetOFF.

open access: yes, 2015
A: top, docking site at the Rosa-Tet locus of the EBRTc cell line [17]; middle: exchange vector (PTHC-Tbx1-myc) carrying a Tbx1 cDNA; bottom: recombinant allele after Cre-induced recombination.
Rosa Ferrentino (177859)   +2 more
core   +1 more source

Tbx1 and Foxi3 genetically interact for thymus and parathyroid gland development.

open access: yes, 2019
(A-B) Whole mount in situ hybridization (WMISH) using an antisense Foxi3 probe on wildtype (WT; A) and Tbx1-/- mouse embryos at E9.5 (B); n = 3 for each genotype.
Erica Hasten (3863032)   +1 more
core   +1 more source

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

open access: yes, 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   +20 more
core   +1 more source

In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS.

open access: yesPLoS ONE
The TBX1 gene plays a critical role in the development of 22q11.2 deletion syndrome (22q11.2DS), a complex genetic disorder associated with various phenotypic manifestations.
Maitha Almakhari   +7 more
doaj   +1 more source

Differentiation assay of the mES-Tbx1TetOFF cell line.

open access: yes, 2015
A: Scheme of experimental protocol. B: qRT-PCR assay of Tbx1 expression in uninduced (+Tet) mES-Tbx1Tet OFF cells. A peak of expression is evident at day 6. C: Schematic representation of the experimental strategy used for pulse Tbx1 expression.
Rosa Ferrentino (177859)   +2 more
core   +1 more source

A novel frameshift mutation in the TBX1 gene

open access: yes
A novel heterozygous frameshift mutation, c.3_27dup (p.Met10Alafs*167), in exon 2 of the TBX1 ...
Hu, Jilin
core   +1 more source

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