Deficiency in several of the classical human RAD51 paralogs [RAD51B, RAD51C, RAD51D, XRCC2 and XRCC3] is associated with cancer predisposition and Fanconi anemia.
Real-time quantitative PCR showed that FA significantly increased the mRNA abundances of myosin heavy chain (MyHC) I, MyHC IIa, sirtuin1 (Sirt1), peroxisome proliferator-activated receptor gamma coactivator-1-α (PGC-1α) and myocyte enhancer factor 2C (MEF2C), but decreased the mRNA abundance of MyHC IIb.
Real-time quantitative PCR showed that FA significantly increased the mRNA abundances of myosin heavy chain (MyHC) I, MyHC IIa, sirtuin1 (Sirt1), peroxisome proliferator-activated receptor gamma coactivator-1-α (PGC-1α) and myocyte enhancer factor 2C (MEF2C), but decreased the mRNA abundance of MyHC IIb.
Furthermore, FA treatment has shown mitigation in intracerebral-ventricular streptozocin (ICV-STZ) induced bioenergetics loss and dynamic changes by regulating peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1alpha) protein levels in nucleus and hence, mitigating exacerbation of Drp-1 dependent mitochondrial fission and apoptosis by alleviating loss of mitochondrial membrane potential (ΔΨm), downregulating cytochrome-c release into the cytosol by limiting mitochondrial permeability transition pore (mPTP) opening concomitant increase in caspase3 activation, BAX expression and DNA fragmentation along with downregulating glial fibrillary acidic protein (GFAP) expression.
Furthermore, FA treatment has shown mitigation in intracerebral-ventricular streptozocin (ICV-STZ) induced bioenergetics loss and dynamic changes by regulating peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1alpha) protein levels in nucleus and hence, mitigating exacerbation of Drp-1 dependent mitochondrial fission and apoptosis by alleviating loss of mitochondrial membrane potential (ΔΨm), downregulating cytochrome-c release into the cytosol by limiting mitochondrial permeability transition pore (mPTP) opening concomitant increase in caspase3 activation, BAX expression and DNA fragmentation along with downregulating glial fibrillary acidic protein (GFAP) expression.
Finally, ectopic expression of the glycolytic rate-limiting enzyme PFKFB3 specifically antagonized p53-TIGAR-mediated metabolic reprogramming in FA HSCs.
Finally, ectopic expression of the glycolytic rate-limiting enzyme PFKFB3 specifically antagonized p53-TIGAR-mediated metabolic reprogramming in FA HSCs.
We identified a functional interaction of TRAF2 with focal adhesion (FA) signaling involving the focal adhesion kinase (FAK) in the regulation of cell susceptibility to anoikis.
Furthermore, FA treatment has shown mitigation in intracerebral-ventricular streptozocin (ICV-STZ) induced bioenergetics loss and dynamic changes by regulating peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1alpha) protein levels in nucleus and hence, mitigating exacerbation of Drp-1 dependent mitochondrial fission and apoptosis by alleviating loss of mitochondrial membrane potential (ΔΨm), downregulating cytochrome-c release into the cytosol by limiting mitochondrial permeability transition pore (mPTP) opening concomitant increase in caspase3 activation, BAX expression and DNA fragmentation along with downregulating glial fibrillary acidic protein (GFAP) expression.
Deficiency of the Fanconi anemia E2 ubiqitin conjugase UBE2T only partially abrogates Alu-mediated recombination in a new model of homology dependent recombination.
A marked increase in the expression levels of nuclear factor‑erythroid 2‑related factor 2 (Nrf2), NAD(P)H quinone dehydrogenase 1 and glutathione‑s‑transferase was detected in FA‑treated rats.
Western blot analysis showed that FA significantly increased the protein level of slow-MyHC, but significantly decreased the protein level of fast-MyHC, which were attenuated by AMP-activated protein kinase (AMPK) inhibitor Compound C, AMPKα2 siRNA or Sirt1 inhibitor EX527.
In this study, peripheral CD4<sup>+</sup> T cells were isolated from food allergy (FA) patients and healthy subjects; A mouse FA model was developed to test the role of Bcl2L12 in induction of allergic response in the intestine.
Gene variants in the DNA helicase RECQL4 (n = 2) and components of the Fanconi anemia complementation group (FANCD2, FANCF, FANCG) (n = 1) were identified in two alternative lenghtening of telomere-positive/ATRX-intact cases.
In addition, CPNE3 interacted with phosphorylated erb-b2 receptor tyrosine kinase 2 (pErbB2) and receptor of activated protein C kinase 1 (RACK1) and activated the focal adhesion (FA) signaling pathway in NSCLC cells.
Using whole-exome sequencing, we identified two novel, compound heterozygous DONSON variants in a pair of siblings, one of whom was previously diagnosed with Fanconi anemia.
FANCM/CeFNCM-1 relocalizes upon hydroxyurea exposure and colocalizes with FANCD2/CeFCD-2 and LSD1/CeSPR-5, suggesting coordination between this histone demethylase and FA components to resolve replication stress.
The tumor suppressors RUNX1 and RUNX3 were shown to regulate the FA pathway independent of their canonical transcription activities, by controlling the DNA damage-dependent chromatin association of FANCD2.
Gene variants in the DNA helicase RECQL4 (n = 2) and components of the Fanconi anemia complementation group (FANCD2, FANCF, FANCG) (n = 1) were identified in two alternative lenghtening of telomere-positive/ATRX-intact cases.