Results 151 to 160 of about 1,863,695 (280)

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

Structural Changes and Transport Properties of YBa2Cu3O7 Locally Modified by a He+ Focused Ion Beam

open access: yesAdvanced Science, EarlyView.
The structure and the electric transport properties of YBa2Cu3O7 modified with 30 keV He+${\rm He}^{+}$ ions depend on the irradiation dose and lateral size of the irradiated area, as shown by low‐temperature resistivity measurements, diffraction with a nanofocused X‐ray beam and atomic force microscopy.
Ross Carter   +11 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

Dictionary of Biblical Criticism and Interpretation

open access: yesTheological Librarianship, 2009
Michael Woodward
doaj   +1 more source

Did Mendel breed mice? [PDF]

open access: yesHist Philos Life Sci
Poczai P.
europepmc   +1 more source

Probing the Energy Landscape of α‐Synuclein Amyloid Fibril Formation by Systematic K‐to‐Q Mutagenesis

open access: yesAdvanced Science, EarlyView.
We use lysine‐to‐glutamine mutations to study the effect of electrostatics on the kinetics and thermodynamics of alpha‐synuclein amyloid fibril formation. We find that mutational effects map on their structural context within fibrils and identify residues that modulate the energy landscape of alpha‐synuclein self‐assembly. Our work outlines a scalable,
Antonin Kunka   +10 more
wiley   +1 more source

The Genesis of Iconographic Exegesis. [PDF]

open access: yesCurr Biblic Res, 2023
Klein Cardoso S.
europepmc   +1 more source

An Unbiased Geometry‐Resolved Membrane Platform for Proteome‐Scale Discovery of Membrane Curvature Sensors

open access: yesAdvanced Science, EarlyView.
A novel geometry‐resolved membrane platform provides a seamlessly integrated pipeline for studying curvature‐sensing proteins. By linking shotgun proteomics with quantitative imaging, this approach enables both the unbiased discovery and rigorous validation of novel sensors across the entire curvature range—positive, negative, and zero.
Takumi Komikawa   +6 more
wiley   +1 more source

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