Results 81 to 90 of about 5,584 (206)
Human Mutations in Mouse Tbx1.
, 2014 A: The position of the three known mutations in TBX1 in human patients are shown with respect to its domain structure [19]–[21]. The three mutations lie within the region that was cloned to generate the GST-TBX1 fusion protein.
Raquel Castellanos (559734) +4 more
core +1 more source
PLoS Genetics, 2012 Mutations of the Wnt5a gene, encoding a ligand of the non-canonical Wnt pathway, and the Ror2 gene, encoding its receptor, have been found in patients with cardiac outflow tract defects. We found that Wnt5a is expressed in the second heart field (SHF), a
Li Chen +5 more
doaj +1 more source
From a developmental atlas to maps of disease origin
Clinical and Translational Medicine, Volume 16, Issue 9, September 2026.
Jiexue Pan +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1362-1371, June 2026.ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang +6 more
wiley +1 more source
Stem Cell Research, 2020 The human induced pluripotent stem cell (iPSC) line YAHKMUi001-A was derived from the dermal fibroblasts of a patient with Tetralogy of Fallot (TOF), with a mutation in the TBX1 gene (c.928G > A). The skin fibroblasts were obtained from a 4-year-old boy,
Shen Han +11 more
doaj +1 more source
Recent Polygenic Adaptation in Heavily Fished Malawi Cichlids
Molecular Ecology, Volume 35, Issue 12, June 2026.ABSTRACT Intense fishing pressure can drive rapid evolution in wild populations, yet the underlying genomic mechanisms often remain elusive. Here, we investigate the genomic consequences of five decades of intense harvesting on the cichlid fish Copadichromis mloto in Lake Malombe, Malawi.
Alexander Hooft van Huysduynen +5 more
wiley +1 more source
PLoS Genetics, 2019 We investigated whether Tbx1, the gene for 22q11.2 deletion syndrome (22q11.2DS) and Foxi3, both required for segmentation of the pharyngeal apparatus (PA) to individual arches, genetically interact. We found that all Tbx1+/-;Foxi3+/- double heterozygous
Erica Hasten, Bernice E Morrow
doaj +1 more source
From Heterogeneity to Plasticity: Endothelial Dynamics in Lung Disease
Pulmonary Circulation, Volume 16, Issue 2, April 2026.ABSTRACT Endothelial heterogeneity and plasticity play an important role in lung development, homeostasis, and pathology. In recent years, increasing evidence has demonstrated that endothelial dysfunction contributes to the progression of various lung diseases, such as ADRS, PF, PH, and lung developmental disorders.
Van Dung Nguyen, Bisheng Zhou
wiley +1 more source
tbx1 expression and heart looping defects in tbx1−/− embryos.
, 2013 (A) cmlc2 ISH in tbx1−/− mutants and WT siblings at specification (14 somites), fusion (21 somites), linear heart tube (24 hpf), jogging (30–36 hpf) stages.
Priya Choudhry (393639) +1 more
core +1 more source
Familial hypertrophic cardiomyopathy associated with TBX1 variation
European Journal of Medical GeneticsHypertrophic cardiomyopathy (HCM) is a common genetic cardiovascular disease characterized by significant genetic heterogeneity. While the T-box transcription factor 1 (TBX1) gene is known to cause congenital cardiovascular defects, it has not been previously associated with HCM.Whole-exome sequencing (WES) was performed to identify causative gene ...
Jie Zhang +9 more
openaire +2 more sources