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Optimal genome mapping offers high-resolution method to better see, then target cancer-causing gene variants

A new study standardizes the use of optical genome mapping (OGM) for patients with blood cancers, demonstrating its potential as a frontline test for diagnosing hematologic malignancies. OGM outperforms existing tests in detecting cancer-causing gene variants and identifying additional information that can improve patient outcomes.

SourceMedical College of Georgia at Augusta University·JournalJournal of Molecular Diagnostics·DateJan 17, 2023

Weiss-Kruszka syndrome and the failure to establish neuronal identity

Researchers identified the molecular mechanism underlying Weiss-Kruszka syndrome, a rare neurodevelopmental disorder characterized by craniofacial anomalies and autistic features. The study reveals that the ZFP462 gene mutation leads to a failure to safeguard neural lineage specification during early embryonic development.

SourceIMBA- Institute of Molecular Biotechnology of the Austrian Academy of Sciences·JournalNature Cell Biology·TypeExperimental study·DateJan 5, 2023

A CNIC study shows that cells possess 2 mechanisms to allow them to respond to different force ranges

The CNIC study reveals two distinct mechanisms by which cells detect and respond to forces of varying strength, one mediated by caveolae and the other by newly discovered dolines. This finding has significant implications for understanding pathological processes such as atherosclerosis and neurodegenerative diseases.

SourceCentro Nacional de Investigaciones Cardiovasculares Carlos III (F.S.P.)·JournalNature Cell Biology·TypeExperimental study·DateJan 2, 2023

A checkerboard pattern of inner ear cells enables us to hear

A recent study published in Frontiers in Cell and Developmental Biology has found that the unique checkerboard pattern of cells in the organ of Corti is essential for proper hearing. The researchers discovered that when hair cells adhere to each other abnormally, it leads to apoptosis and a decrease in hair cell numbers, resulting in h...

SourceKobe University·JournalFrontiers in Cell and Developmental Biology·TypeExperimental study·DateDec 27, 2022

Chinese Medical Journal editorial probes into the role of blood vessels in treating obesity-related disorders

Researchers explore the interactions between adipose tissues and surrounding blood vessels in connection with lipid metabolism and associated diseases. Targeting angiogenesis may provide a gateway for treating obesity, while its inhibition or promotion depends on the specific disease context.

SourceCactus Communications·JournalChinese Medical Journal·TypeLiterature review·DateNov 22, 2022

Aging | Lamin A to Z in normal aging

A new study suggests that prelamin A, a precursor of lamin A, accumulates with age and may drive normal aging. Researchers propose this protein as a target for intervention strategies to extend healthspan and lifespan.

SourceImpact Journals LLC·JournalAging-US·TypeCommentary/editorial·DateNov 9, 2022

High risk/high reward federal grant funds effort to develop a smart drug delivery system to treat multiple Alzheimer’s pathologies all at once

Researchers have designed a smart cell-based delivery system to treat Alzheimer's disease by targeting multiple pathologies, reducing the risk of side effects. The system uses bio-synthesizable drugs and immune cells to deliver combination therapy that addresses all pathologies in a targeted manner.

Mount Sinai researchers use artificial intelligence to uncover the cellular origins of Alzheimer’s disease and other cognitive disorders

The study used a weakly supervised deep learning algorithm to analyze human brain autopsy tissues and predict the presence or absence of cognitive impairment. The model identified a signal associated with decreasing myelin staining, which was linked to cognitive impairment in the white matter.

SourceThe Mount Sinai Hospital / Mount Sinai School of Medicine·JournalActa Neuropathologica Communications·DateSep 20, 2022

Regulation is the name of the game

A new study by Kyoto University found that Regnase-1 gene expression is low in patients with pulmonary arterial hypertension (PAH), mirroring the pathology of humans. The protein's mRNA degradation leads to PAH inhibition, offering a potential new treatment for heart failure and premature death.

SourceKyoto University·JournalCirculation·TypeExperimental study·DateSep 6, 2022

Taste sensors keep proteins in order in flies

A set of genes promoting sweet taste sensation also regulate protein management in flies, according to a new study. The finding suggests a connection between taste-related genes and disorders of protein aggregation.

SourcePLOS·JournalPLOS Biology·TypeExperimental study·DateJul 21, 2022

Simple skin biopsy can assess tissue damage related to COVID-19

Researchers found clots in small venous and arterial blood vessels in normal-looking skin from patients with severe COVID-19, distinguishable from other forms of respiratory illness. Antiviral proteins and interferon-induced inflammatory proteins were also detected, associated with disease severity.

SourceElsevier·JournalAmerican Journal Of Pathology·TypeExperimental study·DateJul 14, 2022

Time-reversal asymmetry surpasses conversion efficiency limit for solar cells

Researchers have developed a single-cell PV design integrated with nonreciprocal optical components to provide 100-percent reuse of emitted radiation, breaking the Shockley–Queisser limit. This breakthrough enables a quasimonochromatic radiation converter to reach the theoretically maximum Carnot efficiency.

SourceSPIE--International Society for Optics and Photonics·JournalJournal of Photonics for Energy·DateJun 1, 2022

Double agents: How stomach stem cells change allegiance upon injury

A molecular switch, p57, enables stomach stem cells to change allegiance from normal digestion to injury response, potentially leading to new treatments for gastric pathologies. The study's findings suggest that p57 is a key regulator of reserve stem cell state in gastric chief cells.

New study discovers novel inhibitory roles of hnRNPK in skeletal muscle cell differentiation

Researchers uncover the pleiotropic functions of hnRNPK in regulating skeletal muscle cell differentiation, including inhibition of myoblast differentiation and suppression of genes involved in endoplasmic reticulum stress. The study suggests that targeting hnRNPK could be a potential therapeutic strategy for treating human disorders.

SourceFujita Health University·JournalInternational Journal of Molecular Sciences·TypeExperimental study·DateMar 7, 2022

Study of Penn patients with decade-long leukemia remissions after Car T cell therapy reveals new details about persistence of personalized “living drug” cells

Researchers discovered two patients with CAR T cell therapy achieved the longest-known remission to date, providing new details about treatment effects and outcomes. The study shows that the infused CAR T cells remained detectable for at least a decade, with sustained remission in both patients.

SourceUniversity of Pennsylvania School of Medicine·JournalNature·TypeData/statistical analysis·DateFeb 2, 2022

Microglial methylation “landscape” in human brain

A new study reveals distinct DNA methylation profiles of human microglia cells across different age groups, disease states, and brain regions. The researchers found that interindividual differences in methylation variability had a larger impact than regional or diagnostic differences.

SourceElsevier·JournalBiological Psychiatry·TypeExperimental study·DateDec 28, 2021

Cystic fibrosis faithfully modeled in a human Lung Airway Chip

Researchers at Harvard's Wyss Institute have developed a microfluidic Organ Chip device that accurately models cystic fibrosis lung airway pathology. The model replicates key pathological hallmarks, including mucus layer changes and inflammatory responses, providing a comprehensive preclinical human model for investigating new therapies.

SourceWyss Institute for Biologically Inspired Engineering at Harvard·JournalJournal of Cystic Fibrosis·TypeExperimental study·DateNov 19, 2021

Researchers discover new insights about tau proteins in people living with ALS

A study published in Brain Pathology found elevated levels of tau protein in the brains of people with ALS who carry a mutation in the C9orf72 gene. The researchers also identified new genetic mutations in the tau gene and discovered that the ratio of different forms of tau protein may be an indicator of disease progression.

SourceMassachusetts General Hospital·JournalBrain Pathology·TypeObservational study·DateNov 15, 2021

Cord blood cell transplantation and curcumin administration tested as therapy of Tay-Sachs disease

A new study investigates the effects of cord blood cell transplantation and curcumin administration on Tay-Sachs disease. The results show an increase in enzyme production and a decrease in inflammation after transplantation, as well as improved symptoms and reduced GM2 ganglioside levels when combined with curcumin.

SourceKazan Federal University·JournalLife·TypeExperimental study·DateNov 2, 2021

Centriole instability might contribute to some cases of microcephaly

Researchers at IRB Barcelona have identified γTuRC as a centriole stabilizer, revealing its role in maintaining centriole stability and preventing microcephaly. The study's findings suggest that defects in γTuRC may contribute to various human diseases, including adolescent scoliosis and male infertility.

SourceInstitute for Research in Biomedicine (IRB Barcelona)·JournalNature Communications·TypeExperimental study·DateNov 1, 2021