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Study uncovers molecular mechanism linking nonsense-mediated RNA decay to microcephaly

Nonsense-mediated RNA decay, or NMD, is an evolutionarily conserved molecular mechanism in which potentially defective messenger RNAs, or mRNAs (genetic material that instructs the body on how to make proteins), are degraded.

1 May 2024

Study investigates senescent phenotypes of human corneal endothelial cells upon UV-A exposure

A new research paper was published on the cover of Aging (listed by MEDLINE/PubMed as "Aging (Albany NY)" and "Aging-US" by Web of Science) Volume 16, Issue 8, entitled, "Senescent characteristics of human corneal endothelial cells upon ultraviolet-A exposure."

30 Apr 2024

AI-MARRVEL: A leap forward in diagnosing genetic diseases with over 98% precision

The knowledge-driven MARRVEL AI-based model (AIM) to identify Mendelian illnesses.

30 Apr 2024

Study investigates the potential effects of neonatal vitamin D on eczema up to adulthood

Australian researchers find that higher neonatal vitamin D levels are associated with lower odds of early-onset persistent eczema but an increased risk of early-onset resolving eczema in children up to age 25.

30 Apr 2024

Age and sex impact antimicrobial resistance levels, research shows

New research presented at this year's European Congress of Clinical Microbiology and Infectious Diseases (ECCMID 2024, Barcelona 27-30 April) shows that levels of resistance to antimicrobials (AMR) varies with age and sex, with age in particular showing substantial variation both between and within countries.

29 Apr 2024

Study reveals how genetic changes in SCN2A gene impact autism and epilepsy

A genetic change or variant in a gene called SCN2A is a known cause of infantile seizures, autism spectrum disorder and intellectual disability, as well as a wide range of other moderate-to-profound impairments in mobility, communication, eating and vision.

26 Apr 2024

How body shape influences colorectal cancer risk

Study reveals that specific body shape phenotypes, such as general obesity and central obesity, significantly increase the risk of colorectal cancer, suggesting distinct molecular pathways for different adiposity subtypes.

25 Apr 2024

Monoclonal antibody Prasinezumab shows promise in slowing rapid Parkinson's progression

A recent study in Nature Medicine evaluated the efficacy of prasinezumab, a monoclonal antibody, in slowing the progression of motor symptoms in Parkinson’s disease patients with rapidly progressing forms, using phase II clinical trial data.

19 Apr 2024

Spatiotemporal transcriptomics reveals insights into primate ovarian aging

The ovary is an essential organ for female fertility, and its age-dependent decline in function is a major cause of infertility.

18 Apr 2024

Metabolic health determines effectiveness of influenza vaccination

Metabolic health (normal blood pressure, blood sugar and cholesterol levels, among other factors) influences the effectiveness of influenza vaccinations. Vaccination is known to be less effective in people with obesity compared to those with a healthier body mass index (BMI), but St. Jude Children's Research Hospital scientists have found it is not obesity itself, but instead metabolic dysfunction, which makes the difference.

18 Apr 2024

New trials show promise for immune checkpoint blockers in early-stage lung cancer

A dendritic cell (DC) vaccine targeting patient-specific neoantigens to patients with resected non-small cell lung cancer (NSCLC).

18 Apr 2024

Exploring the versatile roles of tissue macrophages beyond immune defense

The role of resident tissue macrophages (RTMs) in homeostasis and disease.

17 Apr 2024

Melatonin shows promise in preventing obesity, study finds

Two international studies led by the University of Granada (UGR) have confirmed that melatonin helps prevent obesity.

16 Apr 2024

Gut bacteria play a pivotal role in obesity's impact on body fat metabolism

Review explores the complex interplay between gut microbiota dysregulation in obesity and its impacts on white and brown adipose tissue metabolism, focusing on direct and indirect effects on mitochondria, highlighting potential avenues for obesity treatment through microbiota-focused strategies.

11 Apr 2024

Periostin may be a novel therapeutic target for treating esophageal squamous cell carcinoma

Esophageal squamous cell carcinoma (ESCC) accounts for around 90% of esophageal cancers, especially in East Asia.

9 Apr 2024

Study shows association between childhood loneliness and first-episode psychosis

A new study suggests that children who felt lonely for more than 6 months before the age of 12 are more likely to experience an episode of psychosis than children who did not, with women more affected than men.

9 Apr 2024

Wound warriors: How microbes influence healing and infection risks

Study explores how wound microbiota affect skin repair and infection risk by altering host immune responses, underscoring the complexity of microbial interactions in wound healing.

7 Apr 2024

SRF announces grant to support research on SynGAP-Related Disorder in adults

The SynGAP Research Fund 501(c) today announced a grant to Dr. Danielle Andrade, Dr. Miles Thompson, Dr. Ryan Yuen, Dr. Rogier Kerssebook, and Dr. Anatoljevna Anna Kattentidt to support research on SynGAP-Related Disorder (SRD) in adults.

4 Apr 2024

Turning back the clock on aging immune systems: New treatment rejuvenates elderly defenses

Study demonstrated that selectively reducing myeloid-biased hematopoietic stem cells (my-HSCs) in aged mice rejuvenated the immune system, enhanced lymphopoiesis, reduced inflammation, and improved responses to viral infection, highlighting a potential strategy for countering age-related immune decline.

31 Mar 2024

Space travel alters human vascular cell function, study finds

Study investigates the transcriptomic changes in human vascular smooth muscle cells exposed to spaceflight, revealing significant alterations in gene expression affecting cellular function and phenotype.

31 Mar 2024

Phenotype News and Research

Study uncovers molecular mechanism linking nonsense-mediated RNA decay to microcephaly

Study investigates senescent phenotypes of human corneal endothelial cells upon UV-A exposure

AI-MARRVEL: A leap forward in diagnosing genetic diseases with over 98% precision

Study investigates the potential effects of neonatal vitamin D on eczema up to adulthood

Age and sex impact antimicrobial resistance levels, research shows

Study reveals how genetic changes in SCN2A gene impact autism and epilepsy

How body shape influences colorectal cancer risk

Monoclonal antibody Prasinezumab shows promise in slowing rapid Parkinson's progression

Spatiotemporal transcriptomics reveals insights into primate ovarian aging

Metabolic health determines effectiveness of influenza vaccination

New trials show promise for immune checkpoint blockers in early-stage lung cancer

Exploring the versatile roles of tissue macrophages beyond immune defense

Melatonin shows promise in preventing obesity, study finds

Gut bacteria play a pivotal role in obesity's impact on body fat metabolism

Periostin may be a novel therapeutic target for treating esophageal squamous cell carcinoma

Study shows association between childhood loneliness and first-episode psychosis

Wound warriors: How microbes influence healing and infection risks

SRF announces grant to support research on SynGAP-Related Disorder in adults

Turning back the clock on aging immune systems: New treatment rejuvenates elderly defenses

Space travel alters human vascular cell function, study finds

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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