Results 71 to 80 of about 5,848 (206)
Tbx1 regulation of myogenic differentiation in the limb and cranial mesoderm [PDF]
Developmental Dynamics, 2006 AbstractThe T‐box transcription factor Tbx1 has been implicated in DiGeorge syndrome, the most frequent syndrome due to a chromosomal deletion. Gene inactivation of Tbx1 in mice results in craniofacial and branchial arch defects, including myogenic defects in the first and second branchial arches. A T‐box binding site has been identified in the Xenopus
A. Dastjerdi +9 more
openaire +4 more sources
Tbx2a is required for specification of endodermal pouches during development of the pharyngeal arches. [PDF]
PLoS ONE, 2013 Tbx2 is a member of the T-box family of transcription factors essential for embryo- and organogenesis. A deficiency in the zebrafish paralogue tbx2a causes abnormalities of the pharyngeal arches in a p53-independent manner.
Hang Nguyen Thi Thu +4 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
Screening for Mutations in the TBX1 Gene on Chromosome 22q11.2 in Schizophrenia [PDF]
Genes, 2016 A higher-than-expected frequency of schizophrenia in patients with 22q11.2 deletion syndrome suggests that chromosome 22q11.2 harbors the responsive genes related to the pathophysiology of schizophrenia. The TBX1 gene, which maps to the region on chromosome 22q11.2, plays a vital role in neuronal functions.
Lieh-Yung Ping +4 more
openaire +2 more sources
Craniofacial Phenotypes and Genetics of DiGeorge Syndrome
Journal of Developmental Biology, 2022 The 22q11.2 deletion is one of the most common genetic microdeletions, affecting approximately 1 in 4000 live births in humans. A 1.5 to 2.5 Mb hemizygous deletion of chromosome 22q11.2 causes DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS).
Noriko Funato
doaj +1 more source
Journal of Biochemical and Molecular Toxicology, Volume 40, Issue 8, August 2026.Environmental toxicants may disrupt developmental pathways via strong molecular docking interactions with hub FGF proteins (FGF9 and FGF4) like dibenzo‐p‐dioxin (−7.2 kcal/mol) at the ASN146 residue of FGF9, driving congenital malformations as revealed by PPI networks and toxicity profiling.
Adarsh Kumar Shukla +3 more
wiley +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
Alcohol, Clinical and Experimental Research, Volume 50, Issue 8, August 2026.Of 175 Australian children with fetal alcohol spectrum disorder (FASD), 90% had genetic testing, and of those, 24% had a rare copy number variant (CNV). Genetic testing supports the FASD diagnostic process and may reveal additional diagnoses or sources of genetic vulnerability to FASD.
Suzy Byrnes +2 more
wiley +1 more source
Tbx1 interacts with Baf60a in mouse embryo tissues.
, 2012 (A) Co-IP experiment showing interaction of the Tbx1 and Baf60a endogenous proteins in embryo tissues. The first lane on the left contains nuclear extracts from E9.5 WT embryos.
Li Chen (5749) +5 more
core +1 more source
Tbx1 regulates Smad signaling.
, 2009 To have insight into the molecular mechanisms governing the function of Tbx1, a transcription factor involved in DiGeorge syndrome (DGS) and cardiovascular development, we searched for proteins interacting with it. Using an affinity purification protocol
Fulcoli, Filomena Gabriella
core +1 more source