Results 171 to 180 of about 5,428 (208)

Logic-based modeling of biological networks with Netflux. [PDF]

PLoS Comput Biol
Clark AP, Chowkwale M, Paap A, Dang S, Saucerman JJ.   +4 more
europepmc   +1 more source

Case Report: From imaging to genetics: a case of congenital restrictive strabismus with SEOM expands the 22q11.2 duplication syndrome phenotype. [PDF]

Front Med (Lausanne)
Wei X, Gao R, Xie R.
europepmc   +1 more source

Ccar1 prevents β-catenin nuclear translocation to sustain ground-state pluripotency in mouse ESCs under R2i. [PDF]

Biochem Biophys Rep
Taleahmad S, Abbasinia H, Samadian A, Molamohammadi S, Baharvand H.   +4 more
europepmc   +1 more source

Spectrum of Copy Number Variants in Fetal Congenital Heart Disease and Their Clinical Implications: A Retrospective Study from a Tertiary Care Center. [PDF]

Diagnostics (Basel)
Cai M, Lin N, Fu M, Que Y, Zheng M, Xu L, Huang H.   +6 more
europepmc   +1 more source

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Role of TBX1 in human del22q11.2 syndrome

Lancet, The, 2003
Del22q11.2 syndrome is the most frequent known chromosomal microdeletion syndrome, with an incidence of 1 in 4000-5000 livebirths. It is characterised by a 3-Mb deletion on chromosome 22q11.2, cardiac abnormalities, T-cell deficits, cleft palate facial anomalies, and hypocalcaemia. At least 30 genes have been mapped to the deleted region.
Hisato Yagi, Yoshiyuki Furutani, Takashi Sasaki   +2 more
exaly   +3 more sources

Cloning and characterization of zebrafish tbx1

Gene Expression Patterns, 2003
Tbx1 is one of the genes within the DiGeorge Critical Region (DGCR) and has been recently identified as the critical gene for the cardiovascular anomalies in the DiGeorge mouse models. We have cloned, sequenced and analyzed the zebrafish (Danio rerio) tbx1 cDNA.
Lazaros K, Kochilas, Vijaya, Potluri, Aaron, Gitler, Krithika, Balasubramanian, Alvin J, Chin   +4 more
openaire   +2 more sources

Absence of the vagus nerve in the stomach of Tbx1−/− mutant mice

Neurogastroenterology and Motility, 2011
Tbx1 is a member of the Tbox family of binding domain transcription factors. TBX1 maps within the region of chromosome 22q11 deleted in humans with DiGeorge syndrome (DGS), a common genetic disorder characterized by numerous physical manifestations including craniofacial and cardiac anomalies.
Amélie Calmont, N Thapar, Peter J Scambler   +2 more
exaly   +3 more sources

Tbx1 antagonizes thymus organogenesis (86.4)

The Journal of Immunology, 2009
Abstract The thymus and parathyroids originate from organ-specific domains in endoderm of the 3rd pharyngeal pouch (PP), identified by Foxn1 and Gcm2 expression respectively at embryonic day 11 (E11). The molecular mechanisms regulating fate determination in the 3rd PP are not clear.
Kim T Cardenas, Zhijie Liu, Micheline Laurent, Carla Carter, Nancy Manley, Ellen Richie   +5 more
openaire   +1 more source