Publications by authors named "Khoren Ponsin"
Article Synopsis
- T follicular helper (Tfh) cells, which are important for antibody production, rely heavily on the immunoreceptor PD-1, and its deficiency leads to weakened Tfh functions and impaired immune responses in mice.
- Individuals lacking PD-1 or PD-L1 demonstrate fewer memory B cells and diminished antibody responses, highlighting the critical role of these molecules in immune system functionality.
- PD-1 influences both the intrinsic and extrinsic aspects of B cell memory and antibody production, suggesting that disruptions in PD-1 signaling can lead to complications in immune responses, especially during anti-PD-1-PD-L1 therapies.
Severe defects in human IFNγ immunity predispose individuals to both Bacillus Calmette-Guérin disease and tuberculosis, whereas milder defects predispose only to tuberculosis. Here we report two adults with recurrent pulmonary tuberculosis who are homozygous for a private loss-of-function TNF variant. Neither has any other clinical phenotype and both mount normal clinical and biological inflammatory responses.
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- - The text discusses the impact of genetic variants that introduce an AG sequence in the intronic regions of protein-coding genes, which can disrupt pre-mRNA splicing and lead to various diseases.
- - A computational tool called AGAIN was developed to identify these AG-gain variants systematically, uncovering 350 variants that cause splicing alterations, with a significant portion creating new splice sites or causing exon skipping.
- - Applications of AGAIN in patient samples illustrated its efficacy, revealing a specific AG-gain variant linked to a patient's mycobacterial disease and frequent missplicing in high-risk regions of the genome, with the tool being publicly accessible for further research.
In developing embryos, specific cell populations are often removed to remodel tissue architecture for organogenesis. During urinary tract development, an epithelial duct called the common nephric duct (CND) gets shortened and eventually eliminated to remodel the entry point of the ureter into the bladder. Here we show that non-professional efferocytosis (the process in which epithelial cells engulf apoptotic bodies) is the main mechanism that contributes to CND shortening.
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