Results 71 to 80 of about 4,765 (175)

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

An Outflow Tract Myocardium‐Specific Enhancer at the Sema3c Locus During Heart Development

Genes to Cells, Volume 31, Issue 4, July 2026.
Focusing on an OFT‐specific differentially accessible region, in the present study, we defined a distal OFT myocardial enhancer whose activity depends on GATA binding sites. This enhancer provides insight into the mechanisms underlying spatially restricted Sema3c expression involved in OFT development.
Yunce Wang, Yukihiro Harada, Tomoe Ueyama, Daiki Seya, Osamu Nakagawa, Teruhisa Kawamura   +5 more
wiley   +1 more source

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, Haosen Yang, Xiaokai Li, Tingting Jiang, Siyuan Zhan, Tao Zhong, Jiazhong Guo, Yan Wang, Li Li, Hongping Zhang, Linjie Wang   +10 more
wiley   +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

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

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, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
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

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

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

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, Guilherme Machado Xavier, Stephanie Bryan, Ioannis Theologidis, Matthew Arno, Martyn T. Cobourne   +5 more
doaj   +1 more source