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BioWorld - Thursday, April 16, 2026
Home » Topics » Science » Biomarkers

Biomarkers
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Biomarkers

Novel compound heterozygous variant in EFL1 found in Shwachman-Diamond syndrome 2

March 20, 2023
Researchers from the University of Utah and collaborators presented data on a case report of...
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Biomarkers

Novel mutation in SBDS tied to Shwachman-Diamond syndrome

March 17, 2023
Shwachman-Diamond syndrome (SDS) is a rare disease of ribosome biogenesis affecting multiple systems, with predominant manifestations being exocrine pancreatic insufficiency, bone marrow failure and leukemia predisposition, among others.
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Biomarkers

Identifying mitokines as potential biomarkers in Rett syndrome

March 17, 2023
Rett syndrome (RTT) is a severe, neurodevelopmental disorder that occurs due to pathogenic variants in the methyl-CpG-binding...
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DNA illustration
Biomarkers

New missense variant in MCF2 gene identified in Aarskog-Scott syndrome-like phenotype

March 17, 2023
Aarskog-Scott syndrome (ASS) is rare genetic disorder characterized by dysmorphic features...
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Biomarkers

TRPS1 discriminates squamous cell from basal cell cutaneous tumors

March 16, 2023
The expression of zinc finger transcription factor Trps1 (TRPS1) has been recently found to be specific for tumors of the breast. In normal skin, the expression of TRPS1 is found in outer root sheath, sebocytes and matrical cells of the hair follicle, as well as the inner luminal cells of eccrine glands. Cutaneous tumors with origin in these cell types were hypothesized to express TRPS1. Because little knowledge exists about the expression of TRPS1 in nonmelanocytic tumors of the skin; researchers from The University of Texas MD Anderson Cancer Center performed immunohistochemical (IHC) analysis of TRPS1 in different types of cutaneous tumors.
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Digestive system
Biomarkers

Trop2 identified as a new biomarker and therapeutic target for small bowel adenocarcinoma

March 15, 2023
Human trophoblastic cell surface antigen 2 (Trop2) is upregulated in cancers compared to normal tissues. Researchers from the University of Texas MD Anderson Cancer Center recently aimed to assess the clinical significance of Trop2 in small bowel adenocarcinoma (SBA).
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Bladder cancer illustration
Biomarkers

PLCG2 has prognostic significance in bladder neuroendocrine carcinoma

March 15, 2023
Bladder small-cell carcinoma can be divided into different subtypes depending on the expression of neuroendocrine (NE) markers such as POU2F3, NEUROD1 and ASCL1. Single-cell RNA sequencing previously found a distinct subpopulation with high expression of 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 (PLCG2) with pro-metastatic features and poor prognosis. The aim of a newer study was to evaluate the expression of PLCG2 in bladder NE tumors and correlate it with prognostic utility.
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Biomarkers

Validation of NKX6.2 as novel marker for duodenal neuroendocrine tumors

March 15, 2023
Researchers from the University of Pittsburgh Medical Center and affiliated organizations aimed to validate a novel marker of duodenal neuroendocrine tumors (DNETs), NKK6.2.
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Biomarkers

Study reveals hypermethylated miRNAs in epithelial ovarian cancer

March 14, 2023
Epithelial ovarian cancer (EOC) is difficult to treat due to its advance stage. The study of...
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Stomach and intestine
Biomarkers

Post-acute sequelae of COVID-19 associated with increased gut permeability and oxidized lipids

March 10, 2023
Researchers from Case Western Reserve University presented data from a study that aimed to investigate gut integrity, oxidized lipids and inflammatory markers associated with the pathogenesis of post-acute sequelae of COVID-19 (PASC).
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