Results 151 to 160 of about 56,611 (265)

Sub-10-nm imprint lithography on elastomers by chain translocated crystallization in nanochannels. [PDF]

open access: yesSci Adv
Yang Y   +9 more
europepmc   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

SARS-CoV-2 Omicron infection reveals imprinted antibody responses in the absence of vaccination. [PDF]

open access: yesiScience
Abdullahi A   +36 more
europepmc   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

The Insistence of Blackness and the Persistence of Antiblackness in Ireland

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley   +1 more source

An Enzymatic Platform for Late‐Stage (Radio)isotope Labelling of Oligonucleotides With Methyltransferases

open access: yesAngewandte Chemie, EarlyView.
State‐of‐the‐art synthesis of radiolabelled oligonucleotides involves multi‐step synthesis with high costs, extended timelines and significant radioactive waste generation. Herein, a dual‐methyltransferase platform enables late‐stage, site‐specific labelling, overcoming these limitations through reduced costs, faster turnaround and minimal radioactive ...
Christopher R. B. Swanson   +3 more
wiley   +2 more sources

From Marginal to Central: Marginal Zone‐like B Cells as Critical Targets in Cladribine‐Treated Multiple Sclerosis

open access: yesAnnals of Neurology, EarlyView.
Objective Multiple sclerosis (MS) is a chronic autoimmune disease where B cells play a central pathogenic role. Cladribine, an oral therapy, provides durable benefits by reshaping lymphocyte populations, yet its specific long‐term impact on distinct B‐cell subsets is not fully understood.
Marta Pirronello   +20 more
wiley   +1 more source

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