Motivation: Disrupted gene expression causes an intractable congenital diarrhoea in infants. However, this gene's molecular mechanism is unknown and no homologous proteins have been reported.
Results: Our detailed evolutionary analysis of PERCC1 sequence reveals it to be a previously unappreciated member of the YAP/TAZ/FAM181 family of homologous transcriptional regulators. Like YAP and TAZ, PERCC1 likely interacts with DNA via binding to TEA/ATTS domain transcription factors (TEADs) using its conserved interface-2 and -3 sequences. We compare the expression patterns of with those of . Our report provides the identification and first in-depth bioinformatic analysis of a YAP/TAZ homologue, and a likely new regulator of the YAP/TAZ-TEAD transcriptional complex.
Availability And Implementation: The data underlying this article are available in UniProt Database.
Supplementary Information: Supplementary data are available at online.
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http://dx.doi.org/10.1093/bioadv/vbac008 | DOI Listing |
Sci Transl Med
January 2025
First Department of Medicine, Cardiology, TUM University Hospital, Technical University of Munich, School of Medicine and Health, Munich 81675, Germany.
In patients with cystic fibrosis (CF), repeated cycles of infection and inflammation eventually lead to fatal lung damage. Although diminished mucus clearance can be restored by highly effective CFTR modulator therapy, inflammation and infection often persist. To elucidate the role of the innate immune system in CF etiology, we investigated a CF pig model and compared these results with those for preschool children with CF.
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January 2025
Human Molecular Genetics Research Unit, Institute of Molecular Biology and Biotechnology, Faculty of Biology, Adam Mickiewicz University, Poznan, Poland.
Cardiovascular diseases (CVDs) include atherosclerosis, which is an inflammatory disease of large and medium vessels that leads to atherosclerotic plaque formation. The key factors contributing to the onset and progression of atherosclerosis include the pro-inflammatory cytokines interferon (IFN)α and IFNγ and the pattern recognition receptor (PRR) Toll-like receptor 4 (TLR4). Together, they trigger the activation of IFN regulatory factors (IRFs) and signal transducer and activator of transcription (STAT)s.
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Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, Hong Kong SAR, China.
Signal transducer and activator of transcription 1 (STAT1) gene mutations have broad clinical phenotypes, classified by the inheritance pattern and functional state. Individuals with autosomal dominant STAT1 deficiency are more susceptible to intracellular bacteria, the hallmark of which is Mendelian susceptibility to mycobacterial diseases (MSMDs) that are associated with increased risks of invasive disease by weakly virulent mycobacteria. We report a novel heterozygous missense mutation in exon 23 of the STAT1 gene (NM_007315.
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February 2025
Department of Ophthalmology, Harvard Medical School, Schepens Eye Research Institute of Massachusetts Eye and Ear, Boston, MA, USA.
Introduction: Ocular pain is a common complaint to eye care providers, associated with a variety of ocular conditions, among which dry eye disease (DED) is affecting millions of people worldwide. Despite being highly prevalent, ocular pain is not managed adequately in the clinic.
Objectives: The aim of this study was to investigate the analgesic potential of neurokinin-1 receptor (NK1R) antagonism in DED.
Oncol Lett
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Department of Pathology, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, P.R. China.
Neoadjuvant chemoradiotherapy (nCRT) is the standard treatment for locally advanced rectal cancer (LARC). Pathological complete regression is closely linked to disease outcomes. However, biomarkers predicting nCRT response and patient survival are lacking for LARC.
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