Results 121 to 130 of about 1,193,020 (266)
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy
npj Genomic MedicineNeurodevelopmental disorders (NDDs) have a strong but largely unexplained genetic basis. Moreover, the genetic architecture of these complex disorders in under-represented communities is poorly studied.
Giovanni Spirito +30 more
doaj +1 more source
Molecular Oncology, EarlyView.Matched spatial transcriptomics and single‐nuclei RNA‐seq were generated for anaplastic and BRAFV600E papillary thyroid cancers revealing generic and tumor‐specific states occurring in cancer cells and in the tumor microenvironment. In this context, cancer dedifferentiation mirrored organoid maturation through ordered thyroid marker gain/loss ...
Adrien Tourneur +11 more
wiley +1 more source
Beyond Coding Variants: RNA-Level Mechanisms in Human Disease and Precision Therapeutics
Clinical genomics has traditionally focused on protein-coding variation, yet many pathogenic mechanisms arise through alterations in RNA processing, stability, localisation, translation, and surveillance.
Himanshu Goel
core +1 more source
Communications MedicineAntisense oligonucleotides (ASOs) are incredibly versatile molecules that can be designed to specifically target and modify RNA transcripts to slow down or halt rare genetic disease progression.
Marlen C. Lauffer +3 more
doaj +1 more source
Molecular Oncology, EarlyView.The proposed mechanism of action for the CDK12/13 inhibitor and cyclin K degrader, CT7439. CDK12/13 inhibition interrupts transcription elongation, leading to increased DNA damage that results in cell death. This agent is a potentially novel treatment option for patients with colorectal cancer. Created in BioRender. Cyclin‐dependent kinase (CDK) 12 and
Wylie K. Watlington +10 more
wiley +1 more source
Multispecies-targeting siRNAs for the modulation of JAK1 in the skin
Molecular Therapy: Nucleic AcidsIdentifying therapeutic oligonucleotides that are cross-reactive to experimental animal species can dramatically accelerate the process of preclinical development and clinical translation.
Qi Tang +11 more
doaj +1 more source
Molecular Oncology, EarlyView.Circulating microRNAs as biomarkers of cachexia and sex‐specific cancer in senior dogs. In 25 client‐owned dogs, four circulating miRNAs (miR‐15a, miR‐15b, miR‐16, miR‐140) were downregulated in cachexia, with miR‐16 the strongest individual biomarker (AUC = 0.899).
Soon‐Seok Park +6 more
wiley +1 more source
Cancer‐associated mutations in endometriosis reframe a benign disease through molecular oncology
Molecular Oncology, EarlyView.This review aims to comprehensively analyse cancer‐associated somatic mutations (CAMs) present in endometriotic lesions, emphasizing their biological roles, spatial distribution and implications for translational applications in medicine. By contextualizing a benign state within a genomic framework, this analysis seeks to establish its value as a ...
Clarissa Mujacic +15 more
wiley +1 more source
Identification of Splicing Regulatory Activity of ATXN1 and Its Associated Domains
BiomoleculesThe expansion of the polyglutamine tract in ATXN1 contributes to the pathogenesis of SCA1. ATXN1 functions as a transcriptional regulator that interacts with multiple transcription factors, and transcriptional dysregulation has been observed in SCA1.
Ai Ohki +5 more
doaj +1 more source
Molecular Oncology, EarlyView.LUNAR is a liver‐specific long noncoding RNA (lncRNA) that is highly expressed in normal liver but becomes epigenetically silenced in hepatocellular carcinoma through promoter hypermethylation. Loss of LUNAR is associated with NOTCH activation, epithelial–mesenchymal transition, and metastasis, whereas restoring LUNAR restrains metastatic progression ...
Se Ha Jang +9 more
wiley +1 more source