Results 71 to 80 of about 4,652 (175)

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

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

Multiple Recurrent Copy Number Variations (CNVs) in Chromosome 22 Including 22q11.2 Associated with Autism Spectrum Disorder

Pharmacogenomics and Personalized Medicine, 2022
Safiah Alhazmi,1 Maryam Alzahrani,1 Reem Farsi,1 Mona Alharbi,1 Khloud Algothmi,1 Najla Alburae,1 Magdah Ganash,1 Sheren Azhari,1 Fatemah Basingab,1 Asma Almuhammadi,1 Amany Alqosaibi,2 Heba Alkhatabi,3,4 Aisha Elaimi,3,4 Mohammed Jan,5 Hesham M ...
Alhazmi S, Alzahrani M, Farsi R, Alharbi M, Algothmi K, Alburae N, Ganash M, Azhari S, Basingab F, Almuhammadi A, Alqosaibi A, Alkhatabi H, Elaimi A, Jan M, Aldhalaan HM, Alrafiah A, Alrofaidi A   +16 more
doaj  

Tbx1 and Jag1 act in concert to modulate the fate of neurosensory cells of the mouse otic vesicle

Biology Open, 2017
The domain within the otic vesicle (OV) known as the neurosensory domain (NSD), contains cells that will give rise to the hair and support cells of the otic sensory organs, as well as the neurons that form the cochleovestibular ganglion (CVG).
Stephania Macchiarulo, Bernice E. Morrow
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

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

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 regulates Vegfr3 and is required for lymphatic vessel development [PDF]

Journal of Cell Biology, 2010
Lymphatic dysfunction causes several human diseases, and tumor lymphangiogenesis is implicated in cancer spreading. TBX1 is the major gene for DiGeorge syndrome, which is associated with multiple congenital anomalies. Mutation of Tbx1 in mice recapitulates the human disease phenotype. In this study, we use molecular, cellular, and genetic approaches to
Li Chen, Annalisa Mupo, Tuong Huynh, Sara Cioffi, Matthew Woods, Chengliu Jin, Wallace McKeehan, LuAnn ThompsonSnipes, Antonio Baldini, Elizabeth Illingworth   +9 more
openaire   +6 more sources