Results 91 to 100 of about 30,416 (203)
Epigenetic and Brain Structure Covariation Patterns in Typical and Atypical Development
We present a map linking DNA methylation to brain structure in childhood. Genes in which methylation was linked to brain anatomy are highly enriched for those implicated in psychiatric and neurodevelopmental disorders, highlighting potential epigenetic targets for understanding both typical and atypical brain development.
Valentine Chirokoff +5 more
wiley +1 more source
Across 43 human post‐mortem cortical transcriptomic studies, ASD shows recurrent but non‐uniform convergence on reduced synaptic‐neuronal signalling, increased immune‐glial activity and RNA‐regulatory dysregulation. Metabolic and mitochondrial changes are less consistently supported and appear more conditional within the current cortical evidence base.
Ruslan Kurmashev
wiley +1 more source
MITF Regulates CFTR Expression to Participate in Myocardial Ischemia–Reperfusion Injury
MITF regulates CFTR expression in MIRI, and disruption of the MITF‐CFTR axis is associated with aggravated injury in cellular and animal models. Restoring CFTR partially mitigates MITF deficiency‐related damage. These findings support the involvement of MITF‐CFTR regulation in MIRI and provide a basis for further mechanistic investigation.
Baoxin Tang +4 more
wiley +1 more source
The study found that SARS‐CoV‐2 Omicron infection causes region‐specific inflammatory, immune, synaptic, and signaling disorders in the brain, and the predicted kinases and differentially expressed proteins may serve as potential targets for COVID‐19‐related drug discovery.
Qiaochu Wang +8 more
wiley +1 more source
A Novel N‐Terminal PRPF6 Variant in Autosomal Dominant Retinitis Pigmentosa
This report identifies the first N‐terminal PRPF6 variant (c.514C>T) as a cause of autosomal dominant Retinitis Pigmentosa. This novel variant is associated with progressive peripheral vision loss but notably preserved central visual acuity, suggesting a
Na Li, Yalong Dang
doaj +1 more source
Genetic analysis of primary lung interdigitating dendritic cell sarcomas
Abstract Interdigitating dendritic cell sarcomas (IDCSs) are rare tumors that commonly arise in the hematopoietic system and rarely outside. The genetic drivers of IDCS carcinogenesis are unknown; therefore, therapeutic options are limited. We investigated somatic gene mutations and copy‐number alterations (CNAs) in nine IDCSs arising in the lung by ...
Mikhail S Ermakov +6 more
wiley +1 more source
Workflow for BICC1 interactome characterization in HEK293T cells. Cells expressing FLAG‐tagged BICC1 (full‐length or ΔSAM) were subjected to co‐immunoprecipitation under RNA‐preserved (−) or RNase‐treated (+) conditions (1). Interacting proteins were identified by LC–MS/MS (2) and analyzed through protein–protein interaction networks and functional ...
Heloísa Monteiro do Amaral‐Prado +7 more
wiley +1 more source
MTAP Deficiency as a Metabolic Vulnerability in Cancer: Implications for Synthetic Lethal Therapy
MTAP deletion creates a therapeutically actionable metabolic vulnerability through MTA accumulation and PRMT5 dependency. This review summarizes the biochemical basis of MTAP‐directed synthetic lethality, emerging PRMT5/MAT2A inhibitors, clinicogenomic features of MTAP‐deleted tumors, and future strategies for precision oncology.
Hiroaki Ikushima, Hidenori Kage
wiley +1 more source
Precursor RNA structural patterns at SF3B1 mutation sensitive cryptic 3’ splice sites
SF3B1 is a core component of the spliceosome involved in branch point recognition and 3’ splice site selection. The SF3B1 K700E mutation (lysine to glutamic acid) is common in myelodysplastic syndrome and other blood disorders.
Austin Herbert +5 more
doaj +1 more source
ABSTRACT Background and Aims Prognostic biomarkers that link disease progression and/or responses to therapeutic interventions in patients with primary biliary cholangitis (PBC) remain undefined. In this study, we used a machine learning (ML) approach with whole‐blood transcriptomic data to predict clinical outcomes in response to obeticholic acid (OCA)
Hussain Syed +10 more
wiley +1 more source

