Results 61 to 70 of about 5,781 (202)
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
npj Genomic Medicine, 2023 Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40–50% of patients with 22q11.2 deletion syndrome (22q11.2DS). This syndrome is a rare disorder with relative genetic homogeneity that can facilitate identification ...
Yingjie Zhao +52 more
doaj +1 more source
The Journal of Physiology, EarlyView.Abstract figure legend THC and extract administered to diet‐induced obese mice reduced body weight and fat storage. Extract, but not THC, improved glucose clearance by a mechanism that may include restoring adipoinsular function. Abstract Diet‐induced obesity (DIO) is associated with dysregulated adipoinsular axis and endocannabinoid system (eCBS ...
Bryant Avalos +7 more
wiley +1 more source
Tbx1 functions in pharyngeal arch and cardiovascular development [PDF]
, 2014 Tbx1, a gene encoding a T-box transcription factor, is required for embryonic development in humans and mice. Half dosage of this gene causes most of the features of the DiGeorge or Velocardiofacial syndrome phenotypes, including aortic arch and cardiac ...
Caprio, Cinzia
core +1 more source
Ash2l interacts with Tbx1 and is required during early embryogenesis [PDF]
Experimental Biology and Medicine, 2010 TBX1 encodes a DNA binding transcription factor that is commonly deleted in human DiGeorge syndrome and plays an important role in heart development. Mechanisms of Tbx1 function, such as Tbx1 interacting regulatory proteins and transcriptional target specificity, are largely unknown.
Jason Z, Stoller +7 more
openaire +2 more sources
MedComm, Volume 7, Issue 10, October 2026.This review systematically covers three core dimensions of brown adipose tissue (BAT): multilayered regulatory mechanisms governing brown adipocyte differentiation and phenotypic identity, physiological functions and signaling pathways in mediating thermogenesis and systemic metabolic crosstalk between BAT and multiple organs, and emerging clinical in ...
Xiaoli Deng +4 more
wiley +1 more source
Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome
Neural Plasticity, 2016 The patients with DiGeorge syndrome (DGS), caused by deletion containing dozens of genes in chromosome 22, often carry cardiovascular problem and hearing loss associated with chronic otitis media.
Jiaofeng Chen +5 more
doaj +1 more source
A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome [PDF]
, 2014 Otitis media (OM), the inflammation of the middle ear, is the most common disease and cause for surgery in infants worldwide. Chronic Otitis media with effusion (OME) often leads to conductive hearing loss and is a common feature of a number of ...
Fuchs, JC +3 more
core
Frontiers in Immunology, 2022 Congenital athymia can present with severe T cell lymphopenia (TCL) in the newborn period, which can be detected by decreased T cell receptor excision circles (TRECs) on newborn screening (NBS). The most common thymic stromal defect causing selective TCL
Maria Chitty-Lopez +13 more
doaj +1 more source
Advanced Science, Volume 13, Issue 50, 7 September 2026.ABSTRACT Brown and beige adipocytes dissipate energy as heat, yet effective strategies to enhance their mitochondrial efficiency remain limited. Here, we identify Agnuside (AGN) as a selective stabilizer of the complex I assembly factor NDUFAF6. AGN directly binds cytosolic NDUFAF6, suppresses its ubiquitination, prolongs its half‐life, and facilitates
Qingwen Zhao +7 more
wiley +1 more source
Loss of Tbx1 induces bone phenotypes similar to cleidocranial dysplasia
, 2015 T-box transcription factor, TBX1, is the major candidate gene for 22q11.2 deletion syndrome (DiGeorge/ Velo-cardio-facial syndrome) characterized by facial defects, thymus hypoplasia, cardiovascular anomalies and cleft palates.
Funato, Noriko +4 more
core +1 more source