Results 81 to 90 of about 4,659 (176)

Tbx1 and Foxi3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome.

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

Transcriptional control in cardiac progenitors: Tbx1 interacts with the BAF chromatin remodeling complex and regulates Wnt5a.

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, Filomena Gabriella Fulcoli, Rosa Ferrentino, Stefania Martucciello, Elizabeth A Illingworth, Antonio Baldini   +5 more
doaj   +1 more source

Generation of human iPSC line from a patient with Tetralogy of Fallot, YAHKMUi001-A, carrying a mutation in TBX1 gene

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, Ya-yong Zhang, Ming-yao Meng, Zong-liu Hou, Ping Meng, Yi-yi Zhao, Hui Gao, Jian Tang, Zu Liu, Li-li Yang, Li-hong Jiang, Ya-xiong Li   +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, Francisco Campuzano Jiménez, Julia Camacho Garcia, Gudrun De Boeck, Bosco Rusuwa, Hannes Svardal   +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
wiley   +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, Samuel Ruiz‐Campos, Anabel Chica‐Perez, Andrés Baena‐Raya, Francisco M. Acosta, Christian Wolfrum, Patrick C. N. Rensen, Tania Romacho, Borja Martinez‐Tellez   +8 more
wiley   +1 more source

Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance

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, Xin Hou, Xiangyu Wang, Juan Li, Li Li, Xiangyi Ma   +5 more
wiley   +1 more source

A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome

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, Gregory A. Clines, Jennifer A. Wyckoff   +2 more
doaj   +1 more source

Antipsychotic Use Among Intellectually Disabled Individuals With Rare Genetic Variants That Confer Risk for Schizophrenia

Journal of Intellectual Disability Research, Volume 70, Issue 4, Page 440-445, April 2026.
ABSTRACT Background Rare genetic variation can predispose individuals to the development of schizophrenia, with certain genes and copy number variants (CNVs) conferring risk at the exome/genome‐wide level. Despite this strong association, little is known about antipsychotic effectiveness and tolerability among individuals with most of these disorders ...
Mark Ainsley Colijn
wiley   +1 more source

Familial hypertrophic cardiomyopathy associated with TBX1 variation

European Journal of Medical Genetics
Hypertrophic 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, Yafei Deng, Yaxin Huang, Daoheng Hu, Haiyan Wu, Tao Lv, Weng Yang, Lilan Wan, Fang Liu, Jilin Hu   +9 more
openaire   +2 more sources