Results 171 to 180 of about 304,491 (268)

Optimized Cas9‐Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders

open access: yesAdvanced Science, EarlyView.
An optimized Cas9‐enriched nanopore sequencing workflow, combined with STRiker, enables simultaneous analysis of disease‐associated STR loci from patient blood. The nCATS–STRiker workflow detects repeat expansions, de novo repeat motifs, interruption patterns, and methylation in a single assay, improving the genetic diagnosis of previously undiagnosed ...
Seungbok Lee   +11 more
wiley   +1 more source

An Injectable ROS‐Responsive Nanozyme Hydrogel Regulates the Uterine Microenvironment to Prevent Intrauterine Adhesions

open access: yesAdvanced Science, EarlyView.
The injectable CeTA@GPP hydrogel is administered via intrauterine injection, forming a protective barrier. In the high ROS inflammatory microenvironment of injured endometrium, boronate ester cleavage triggers responsive CeTA release and local enrichment.
Peixian Cheng   +8 more
wiley   +1 more source

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

open access: yesAdvanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale   +23 more
wiley   +1 more source

NSUN2‐Mediated m5C Modification of TGFB1 in Trophoblasts Remodels Macrophage Function to Prevent URSA

open access: yesAdvanced Science, EarlyView.
NSUN2 and m5C decline in URSA villous tissues. Trophoblast Nsun2 ablation disrupts macrophage‐mediated maternal‐fetal tolerance and triggers embryo resorption. Mechanistically, NSUN2‐YBX1 axis stabilizes m5C‐modified TGFB1 mRNA to maintain TGF‐β1 secretion and M2 polarization, and restoring this signaling rescues maternal‐fetal immune tolerance to ...
Xiaoxiao Zhu   +10 more
wiley   +1 more source

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