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Home » Topics » Biomarkers, BioWorld Science

Biomarkers, BioWorld Science
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Tau protein in Alzheimer's disease
Biomarkers

Enigma Biomedical selects 4R tau PET imaging biomarkers to advance into clinic

March 21, 2025
Enigma Biomedical USA Inc. has selected two four-repeat tau (4R tau) protein PET imaging biomarkers to advance into phase I studies. These imaging biomarkers show promise as important new tools in advancing understanding of neurodegenerative diseases in which the misfolded 4R tau protein is implicated.
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Biomarkers

New findings relate MAD1L1 gene with mosaic variegated aneuploidy syndrome

March 21, 2025
Mosaic variegated aneuploidy syndrome (MVAS) is an autosomal recessive disorder characterized by mosaic aneuploidy. Its clinical manifestations include growth and developmental delay, congenital malformations and increased cancer risk. Genetic variants involved in MVAS affect the chromosomal segregation during mitosis, where individuals often show mosaicism and chromosomal instability.
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Melanoma cells stained with an H & E stain and magnified to 320x.
Biomarkers

New data link SELENOO expression with melanoma metastasis

March 14, 2025
Selenoprotein O (SELENOO) is an antioxidant mitochondrial enzyme that transfers AMP from ATP to protein substrates in a post-translational process known as AMPylation.
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Silhouette made of crumpled paper illustrating depression
Biomarkers

Recent published data link miR-708-5p with bipolar disorder

March 14, 2025
Mood disorders include major depressive disorder and bipolar disorder, and they affect mood and cognition. It is known that mood disorders share a genetic heritable background, but the environmental factors also play a key role here. Recent data had highlighted the potential role of micro RNAs (miRNAs) in the pathogenesis of mood disorders.
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Biomarkers

HMCN1 variants aggravate severe phenotype in KRT14-associated EBS

March 13, 2025
To identify new genetic modifiers for epidermolysis bullosa simplex (EBS), a team led by scientists at Tel Aviv Medical Center performed exome sequencing of 195 patients with EBS from 90 different families, followed by screening for pathogenic variants in selected individuals, which resulted in identification of 3 variants in HMCN1 (codes for hemicentin-1) that co-segregated with the disease phenotype severity in 4 families.
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Brain and DNA
Biomarkers

De novo mutations in PPP2R5C cause neurodevelopmental disorder

March 10, 2025
Neurodevelopmental disorders related to protein phosphatase 2A (PP2A) have been recently renamed as Houge-Janssens syndrome and they are caused by heterozygous, de novo pathogenic genetic variants in the PPP2R5D, PPP2R1A or PPP2CA genes. The syndrome is characterized by features such as intellectual disability, autism, developmental delay, seizures or brain abnormalities, among others.
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Justin Rubio working in the lab
Inflammatory

Inflammation appears to cause mutations linked to MS progression

March 10, 2025
By Tamra Sami
For the first time, researchers have identified that inflammation – long associated with multiple sclerosis (MS) – appears to cause increased mutations that damage neurons linked to MS progression. Researchers at the Florey Institute and the University of Melbourne studied MS brain lesions, which are areas of past or ongoing brain inflammation that are visible as spots on MRI scans.
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Immuno-oncology

TTK-related gene index predicts prognosis and immunotherapy response in ESCC

March 6, 2025
Esophageal cancer, particularly esophageal squamous cell carcinoma (ESCC), is one of the most prevalent digestive malignancies, with a 5-year survival rate of only 20%. Although some cancer immunotherapies based on immune checkpoint inhibitors (ICIs) have shown promise for ESCC, only a minority of patients actually benefit from ICI therapy.
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Biomarkers

Modulation of miRNAs has therapeutic efficacy in models of fibrosis and HCC

Feb. 27, 2025
Researchers from Medizinische Hochschule Hannover and affiliated organizations reported data from studies aimed to identify non-coding microRNAs (miRNAs) with therapeutic potential against liver fibrosis in hepatocellular carcinoma (HCC). Functional screening of patient-derived primary human hepatic myofibroblasts, followed by in vivo validation in mouse models of fibrosis, were performed in search of antifibrotic miRNAs.
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Microscope
Biomarkers

TROP2 is a prognostic factor in urachal carcinoma

Feb. 18, 2025
Urachal carcinoma is a rare cancer which lacks a standard drug therapy, and for which knowledge regarding its immunohistochemical features remains unclear. The aim of a recently reported investigation was finding potential markers and targets for urachal carcinoma based on antibody-drug conjugate targets, as well as its association with prognosis.
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