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"Жизнь коротка, наука -- бесконечна" (Гиппократ)
Новое в науке на 2026-04-09

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Biallelic variants in RNU4-2 cause a recessive neurodevelopmental disorder that is phenotypically and molecularly distinct from dominant ReNU syndrome and associated with reduced RNU4-2 transcript levels, consistent with a loss-of-function mechanism.

2026-04-08

A two-step mechanism for sugar translocation

Sugar porters are textbook examples of how transport activity is described by Michaelis–Menten kinetics. Here, using saturation transfer difference nuclear magnetic resonance spectroscopy, Ahn et al. conclude that the fully occluded state of a sugar transporter is analogous to the transition state in soluble enzymes.

2026-04-08

Microtubules in the axon are GDP bound but adopt a stable GTP-like expanded state

Zehr et al. revealed the 2.7-Å cryo-electron microscopy reconstruction of human microtubules in situ in the axon of induced pluripotent stem cell (iPS cell)-derived neurons. It shows an expanded microtubule lattice yet bound to GDP, in contrast to the compacted lattice observed at the iPS cell stage.

2026-04-08

CIPHER-seq Reveals Immune Cell Activity

A new single-cell method called CIPHER-seq is giving scientists an unprecedented view of immune cell behavior, connecting genetic signals to...

2026-04-08

High-content CRISPR activation screens identify synthetically lethal RNA-based mechanisms to sensitize cancer cells to targeted T cell cytotoxicity

A series of in vitro and in vivo CRISPR activation screens combined with in situ Perturb-seq identify regulators of T cell-dependent cytotoxicity in melanoma.

2026-04-07

WGS Confirms P. ransonneti Lacks Luciferase Gene and Steals Bioluminescence from Prey

Whole-genome sequencing has provided definitive proof that the fish Parapriacanthus ransonneti lacks the luciferase gene essential for...

2026-04-06

MitoPerturb-Seq identifies gene-specific single-cell responses to mitochondrial DNA depletion and heteroplasmy

Burr and Auckland et. al develop MitoPerturb-Seq, which combines single-cell screening with multiomics to link nuclear genes to mitochondrial DNA (mtDNA) dynamics. They unveil core regulators of mtDNA copy number and characterize cell-cycle delays and transcriptional stress in response to mtDNA depletion.

2026-04-01

Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis

Single-variant and ultrarare variant burden analyses leveraging exome sequencing data from 22 cohorts identify new risk genes for amyotrophic lateral sclerosis and show cumulative effects of several rare variants on disease risk.

2026-03-31

Unique Workflow Expands Functional Analysis of Fungal Genes

RNA sequencing (RNA-seq) has become a foundational method for identifying which genes are active within an organism. However, connecting these gene...

2026-03-31

Karolinska Initiative Integrates Whole Genome Sequencing to Improve Rare Disease Diagnosis

A decade-long collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has successfully integrated whole genome...

2026-03-30

Novel Method Optimizes Plasmid Creation

In a recent Nature Communications paper (https://www.nature.com/articles/s41467-026-68907-1), Rice University professor James Chappell and...

2026-03-26

Reprogramming of stroma-derived chemokine networks drives the loss of tissue organization in nodal B cell lymphoma

Czernilofsky et al. identified factors that reprogram stromal cells into an inflammatory, dysfunctional state, leading to the structural disorganization of lymph nodes in B cell lymphoma at single-cell and spatial resolutions.

2026-03-25