Results 81 to 90 of about 5,428 (208)
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
From Heterogeneity to Plasticity: Endothelial Dynamics in Lung Disease
Pulmonary Circulation, Volume 16, Issue 2, June 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
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
Nature Communications, 2023 Cardiac neural crest must differentiate and migrate correctly to achieve proper cardiovascular development. Here, the authors use single cell analyses to show how these cells are altered non-autonomously by loss of Tbx1, the major gene for 22q11.2 ...
Christopher De Bono +5 more
doaj +1 more source
Deciphering the Presence of Active Interscapular Brown Adipose Tissue in Humans
Acta Physiologica, Volume 242, Issue 4, April 2026.ABSTRACT Brown adipose tissue (BAT) is increasingly recognized as a metabolically active tissue in humans, although its physiological relevance remains incompletely understood. In rodents, BAT is well characterized, with interscapular BAT (iBAT) representing the main thermogenic depot.
Joaquin Sanchez‐Gomez +8 more
wiley +1 more source
Molecular mechanisms connecting genotype and phenotype in Tbx1 deficiency
, 2012 Background: The 22q11 deletion syndrome (22q11DS), also known as DiGeorge Syndrome, affects ~1/5000 live born children. Congenital heart defects (typically outflow tract and interrupted aortic arch) are present in 75% of individuals with 22q11DS and are ...
Mesmaeker, Julie Anne Laurence Nathalie De +1 more
core +2 more sources
Clinical Genetics, Volume 109, Issue 4, Page 615-629, April 2026.This review primarily summarizes the genetic defects in Müllerian anomalies, the tools used to validate these genetic defects, and the future clinical significance of identifying the precise genetic etiology of Müllerian anomalies. ABSTRACT Müllerian anomalies are a collection of heterogeneous anatomical disorders of the female genital tract that ...
Jingfang Li +5 more
wiley +1 more source
Tbx2a and Tbx1 do not regulate expression of each other.
, 2013 Fold-change of the expression level of Tbx2a and Tbx1 relative to the control (1x change) at 30 hpf. (A) tbx2a MO2 and MO3 had no significant effect on the expression of tbx1. (B) tbx1 MO had no significant effect on the expression of tbx2a.
Vladimir Korzh (53927) +4 more
core +1 more source
Clinical Diabetes and Endocrinology, 2019 Background The heterozygous microdeletion of chromosome 22q11.2 results in a spectrum of disorders, including DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS), with phenotypic features that can include the classic triad of congenital heart ...
Raad A. Haddad +2 more
doaj +1 more source