Pathogenic Variants in the Polycystin Pore Helix Cause Distinct Forms of Channel Dysfunction

Medicine, Basic Medical Sciences, Nephrology, Life Sciences, Cell Biology, Biochemistry, Genetics, Biophysics,
autosomal dominant polycystic kidney disease   polycystin   PKD2   ion channels   cryo-EM   channel dysfunction   protein assembly  

Molecular Mechanism Analysis of ADPKD Pathogenic Variants in Ion Channels – In-depth Interpretation of PNAS 2025 Latest Original Research I. Academic Research Background and Scientific Significance Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common monogenic disorders worldwide, affecting millions of individuals. The pat...

Generative Prediction of Causal Gene Sets Responsible for Complex Traits

Information Science, Artificial Intelligence, Life Sciences, Cell Biology, Biochemistry, Bioengineering, Genetics,
gene regulatory networks   complex traits   generative deep learning   variational autoencoder   causal gene sets   phenotypic variation   polygenic diseases  

Generative Deep Learning for Predicting Causal Gene Sets of Complex Traits: PNAS Landmark New Method Explained I. Academic Background and Research Motivation The Dilemma of Complex Traits The relationship between genotype and phenotype has long been one of the core issues in biology and genetics. This challenge is especially prominent in the study ...

The Dependence of Amino Acid Backbone Conformation on the Translated Synonymous Codon Is Not Statistically Significant

Life Sciences, Cell Biology, Biochemistry, Bioengineering, Genetics, Biophysics,
synonymous codon   protein structure   dihedral angle   statistical analysis   protein folding   translation regulation  

Re-evaluating the Influence of Synonymous Codons on Protein Backbone Conformation — A Dialectic Under Rigorous Statistical Testing in Structural Biology 1. Academic Background and Research Motivation In the fields of molecular biology and structural biology, the relationship between codons and protein structure has long been a focal point of resear...

Mechanistic Analysis of Channel Dysfunction Caused by Diverse Pathogenic Polycystin Pore Helix Variants

Medicine, Basic Medical Sciences, Nephrology, Life Sciences, Cell Biology, Biochemistry, Genetics, Biophysics,
autosomal dominant polycystic kidney disease   polycystin   channelopathy   ion channel   primary cilia   structure   drug development  

I. Research Background and Scientific Significance Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a common monogenic hereditary kidney disease that affects millions of people worldwide. ADPKD is primarily caused by mutations in the renal polycystin family (especially the PKD1 and PKD2 genes), which encode channel subunits pivotal for ion c...

Cross-species modeling of plant genomes at single-nucleotide resolution using a pretrained DNA language model

Information Science, Computer Science, Artificial Intelligence, Life Sciences, Biochemistry, Bioengineering, Genetics, Botany,
plant genomics   deep learning   DNA language model   cross-species prediction   deleterious mutation   gene annotation   angiosperm  

A Milestone in Cross-Species Modeling of Plant Genomes: Creation and Breakthrough Application of the PlantCaduceus DNA Language Model I. Academic Background and Research Motivation In the past two decades, with the rapid development of high-throughput sequencing technology, over 1,000 plant genomes have been published, and this number is expected t...

Bias-Aware Training and Evaluation of Link Prediction Algorithms in Network Biology

Information Science, Computer Science, Artificial Intelligence, Life Sciences, Cell Biology, Biochemistry, Bioengineering, Genetics,
link prediction   network biology   bias   protein-protein interaction   graph machine learning   algorithm evaluation  

Revealing “Rich Node” Bias in Link Prediction Algorithms and Countermeasures — An Interpretation of “Bias-aware Training and Evaluation of Link Prediction Algorithms in Network Biology” 1. Academic Background and Motivation Over the past decade, network biology has played an increasingly important role in uncovering associations and functions of bi...