Results 51 to 60 of about 4,724 (130)
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
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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
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A Functionally Conserved Enhancer is Critical for PGC1A Expression and Thermogenesis in Brown Fat
Advanced Science, Volume 13, Issue 31, 4 June 2026.An evolutionarily conserved enhancer controls PGC1A expression and thermogenic activation in brown adipose tissue. Integrative multi‐omics analyses identify two BAT‐specific enhancers, with PGC1A‐En1 functioning as the dominant regulatory element that maintains thermogenic capacity across species.
Duo Su +10 more
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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
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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
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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, 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
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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
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
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Gene expression profiling in the developing secondary palate in the absence of Tbx1 function
BMC Genomics, 2018 Background Microdeletion of chromosome 22q11 is associated with significant developmental anomalies, including disruption of the cardiac outflow tract, thymic/parathyroid aplasia and cleft palate.
Maria Zoupa +5 more
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