Ciliopathies: Undocking of an Extensive Ciliary Network Induces Proteostasis and Cell Fate Switching Resulting in Severe Primary Ciliary Dyskinesia

Medicine, Respiratory System, Life Sciences, Cell Biology, Biochemistry, Genetics,
Primary Ciliary Dyskinesia   Ciliary Network   Proteostasis   Cell Fate Switching   Gene Therapy  

Research on Ciliary Diseases: The Role of CCDC39/CCDC40 Heterodimer in Primary Ciliary Dyskinesia Academic Background Primary Ciliary Dyskinesia (PCD) is a rare monogenic disorder characterized by chronic respiratory infections, infertility, and organ laterality defects. Although more than 50 genes associated with PCD have been identified, mutation...

Genome-wide association study of prostate-specific antigen levels in 392,522 men identifies new loci and improves prediction across ancestry groups

Medicine, Urology, Oncology, Life Sciences, Genetics,
Genome-wide association study   Prostate-specific antigen   Multiancestry groups   Genetic prediction   Prostate cancer screening  

Multi-Ancestry Genome-Wide Association Study Reveals New Loci for Prostate-Specific Antigen Levels and Improves Prediction Across Ancestral Groups Research Background and Problem Statement Prostate-specific antigen (PSA) is a protein secreted by the prostate gland, commonly used for prostate cancer screening. However, PSA levels are influenced not ...

Mechanistic Insights into Inactivating Mutations in the Proton-Coupled Folate Transporter (SLC46A1), and Compensatory Mutations that Restore Function

Chemistry, Physical Chemistry, Medicinal Chemistry, Computational Chemistry, Medicine, Life Sciences, Biochemistry, Genetics,
Proton-Coupled Folate Transporter   Inactivating Mutations   Functional Restoration   Molecular Dynamics Simulation   Hereditary Folate Malabsorption  

Research Background and Problem Statement Hereditary Folate Malabsorption (HFM) is a rare autosomal recessive disorder characterized by impaired intestinal absorption of folates and hindered transport across the choroid plexus into cerebrospinal fluid. This disease is caused by inactivating mutations in the gene encoding the Proton-Coupled Folate T...

A Statistical Framework for Multi-Trait Rare Variant Analysis in Large-Scale Whole-Genome Sequencing Studies

Medicine, Life Sciences, Biochemistry, Bioengineering, Genetics,
statistical framework   rare variants   multi-trait analysis   whole-genome sequencing   functional annotations  

A New Framework for Multi-Trait Rare Variant Analysis: Multistaar Research Background and Problem Statement With the advancement of next-generation sequencing technologies and the decreasing cost of whole-genome sequencing (WGS), researchers can delve deeper into the impact of rare variants on complex human traits. However, single-trait analysis me...

Recommendations for Implementing the HEvolution Alliance for Aging Biomarkers Initiative

Medicine, Geriatrics, Life Sciences, Cell Biology, Biochemistry, Bioengineering, Immunology, Genetics,
aging biomarkers   health expectancy   geroscience   biological age   longitudinal studies  

Promoting Healthy Longevity: Implementation Recommendations for the Hevolution Alliance for Aging Biomarkers Initiative Academic Background and Research Motivation With the intensification of global population aging, human life expectancy has significantly increased, but the growth in healthy life expectancy (i.e., years lived in good health) has b...

5-HT Orchestrates Histone Serotonylation and Citrullination to Drive Neutrophil Extracellular Traps and Liver Metastasis

5-HT Orchestrates Histone Serotonylation and Citrullination to Drive Neutrophil Extracellular Traps and Liver Metastasis

Medicine, Rheumatology and Immunology, Basic Medical Sciences, Oncology, Life Sciences, Biochemistry, Immunology, Genetics,
5-HT   histone serotonylation   citrullination   neutrophil extracellular traps   liver metastasis   neuroendocrine prostate cancer   immune microenvironment  

Mechanism Study on 5-Hydroxytryptamine Regulating Histone Modifications to Drive Liver Metastasis Academic Background Cancer metastasis is one of the leading causes of cancer patient mortality, especially visceral organ metastases such as liver metastasis (liver metastasis). Neuroendocrine tumors (NETs) are a class of highly metastatic tumors, amon...