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BackgroundSevere combined immunodeficiency (SCID) is a life-threatening condition that requires urgent medical attention. Newborn screening (NBS) using the T cell receptor excision circle (TREC) assay facilitates early d...

NCKAP1L encodes hematopoietic protein-1 (HEM1), a component of the WASp family verproline-homologous protein (WAVE) actin regulatory complex, activated downstream of multiple immune receptors. HEM1 deficiency disrupts WA...

IntroductionOSMR encodes oncostatin M receptor beta (OSMRβ), a cell surface receptor of the gp130 family that binds OSM and IL-31, and is highly expressed on fibroblasts. The gp130 family comprises signaling proteins, m...

We previously reported that inherited human retinoic acid-related orphan receptor gamma T (RORγT) deficiency underlies mycobacterial disease and chronic mucocutaneous candidiasis (CMC) in seven patients from three ances...

IntroductionInborn errors of interferon response factors (IRFs) are a subset of monogenic inborn errors of immunity, occurring as a result of damaging variants in the IRF genes. Of these diseases, IRF4 deficiencies are a...

MYB is a transcription factor and master regulator of hematopoiesis with a central role at multiple stages of B and T cell development. We identified ten heterozygous germline MYB variants in seven families and four unre...

The reality confronting ecosystem managers today is one of heterogeneous, rapidly transforming landscapes, particularly in the areas more affected by urban and agricultural development. A landscape management framework t...

Aerobic exercise training can increase skeletal muscle mitochondrial content. Supine exercise training with legs above the heart potentially augments these increases. However, the impact of supine exercise training on mi...

Abstract The seismic velocity structure beneath East Africa suggests interconnected corridors of hot mantle are upwelling beneath the continent. However, the geochemical evidence for deep mantle in Ethiopia‐Kenya‐Tan...

Abstract Background Opportunities for social connection between generations in the UK have diminished over the last few decades because of changes in the way that we live and work. The decline in communal spaces such as ...

Through the integration of semiconductors or complex oxides into metal resonators, tunable metamaterials have been achieved by a change of environment using an external stimulus. Metals provide high conductivity to reali...

In situ observations by Parker Solar Probe (PSP) suggest that the heliospheric current sheet (HCS) undergoes near-continuous magnetic reconnection close to the Sun, in stark contrast to scarce observations of this phenom...

O trabalho foi realizado com o objetivo de avaliar o potencial produtivo e a composição química de cinco gramíneas tropicais (Pennisetum purpureum Schum. cv. Pioneiro, P. purpureum Schum cv. Mott; Panicum maximum Jac...

Abstract Quantifying luminescence signal resetting of sand grains in turbid waters is essential for both sediment dating and tracing, yet direct measurement under natural subaqueous conditions remain scarce. Here, we pre...

As artificial intelligence (AI) becomes increasingly integrated into mental healthcare, it presents both opportunities to expand access and challenges related to ethics, safety, and regulation. This white paper examines ...

Abstract The effects of high‐load (HL) versus high‐volume (HV) resistance training (RT) on various molecular outcomes are similar. However, mitochondrial responses remain understudied. Therefore, the purpose of this ...

Trends over time in the protected area coverage of Key Biodiversity Areas is an indicator to track progress for global environmental targets, including Sustainable Development Goals 14 and 15, and Target 3 of the Kunming...

X-linked inhibitor of apoptosis (XIAP) is essential for innate and adaptive immune responses, including programmed cell death inhibition, NFkB and MAPK activation, NLRP3 inflammasome activity regulation, and TNFR signali...

The construction of a depression rating scale designed to be particularly sensitive to treatment effects is described. Ratings of 54 English and 52 Swedish patients on a 65 item comprehensive psychopathology scale were u...

Materias / palabras clave: Humanity; Planetary boundaries; Environmental ethics; Space (punctuation); Philosophy; Computer science; Political science; Biology; Ecology; Law; Sustainability; Linguistics

Materias / palabras clave: Biology; Computational biology; Data integration; Computer science; Data mining

BACKGROUND: Warfarin reduces the risk of stroke in patients with atrial fibrillation but increases the risk of hemorrhage and is difficult to use. Dabigatran is a new oral direct thrombin inhibitor. METHODS: In this noni...

Obesity alters adipose tissue metabolic and endocrine function and leads to an increased release of fatty acids, hormones, and proinflammatory molecules that contribute to obesity associated complications. To further cha...

We make an analogy between images and statistical mechanics systems. Pixel gray levels and the presence and orientation of edges are viewed as states of atoms or molecules in a lattice-like physical system. The assignmen...