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The rd3 mouse is one of the oldest identified models of early-onset retinal degeneration. Using the positional candidate approach, we have identified a C -> T substitution in a novel gene, Rd3, that encodes an evolutionarily conserved protein of 195 amino acids. The rd3 mutation results in a predicted stop codon after residue 106. This change is observed in four rd3 lines derived from the original

Lipid metabolism plays an important role in glucose homeostasis under normal and pathological conditions. In adipocytes, skeletal muscle, and pancreatic beta-cells, lipids are mobilized from acylglycerides by the hormone-sensitive lipase (HSL). Here, the consequences of a targeted disruption of the HSL gene for glucose homeostasis were examined. HSL null mice were slightly hyperglycemic in the fas

Skin fibrosis is characterized by activated fibroblasts and an altered architecture of the extracellular matrix. Excessive deposition of extracellular matrix proteins and altered cytokine levels in the dermal collagen matrix are common to several pathological situations such as localized scleroderma and systemic sclerosis, keloids, dermatosclerosis associated with venous ulcers and the fibroprolif

Carbonylation of proteins is an irreversible oxidative damage that increases during both chronological and replicative yeast aging. In the latter, a spatial protein quality control system that relies on Sir2 is responsible for the asymmetrical damage segregation in the mother cells. Proper localization of Sir2 on chromatin depends on the deubiquitinating enzyme Ubp10, whose loss of function deeply

It is an open question whether small planets around M dwarfs are able to maintain atmospheres. The Hot Rocks Survey aims to address this question by observing nine rocky exoplanets orbiting M dwarfs with MIRI emission photometry to constrain the onset of atmospheres. In this paper, we present two MIRI F1500W (15 μm) eclipses of LTT 3780 b, an ultrashort-period super-Earth (P = 0.768 days, R = 1.32

Our study contributes a contextual perspective on entrepreneurs’ networking, shifting focus from individual-level network structure and networking activities toward understanding networking as a multilevel process involving individual and contextual mechanisms. Through a multiple case study of entrepreneurs in Silicon Valley and Berlin, we introduce networking temperature as novel concept that cap

Background: Despite the advancement of electrocardiogram (ECG) monitoring methods, the most important factor influencing diagnostic yield (DY) may still be monitoring duration. Ambulatory ECG monitoring, typically with 24–48 hours duration, is widely used but may result in underdiagnosis of rare arrhythmias. Aims: This study aimed to examine the relationship between the DY and monitoring duration

Background: Staphylococcus lugdunensis has been described as a pathogen of increasing importance in prosthetic joint infections (PJI). Our aim was to describe the clinical presentation of PJI caused by S. lugdunensis, and to correlate the biofilm-forming ability of the bacterial isolates to clinical outcome. Method: S. lugdunensis isolates from PJI episodes during 2015–2019 were included and analy

Post hoc interventions rely on having access to certain personal data - such as the gender, age, ethnicity, and sexual orientation of the persons being evaluated - in order to detect and correct for prejudice. This brings these interventions into possible tension with pertinent data protection legislation, which might restrict the processing of said data. We discuss the compatibility of post hoc i

OBJECTIVE: Untreated perinatal HIV-1 infection is often associated with rapid disease progression in children with HIV (CWH), characterized by high viral loads and early mortality. TRIM22 is a host restriction factor, which directly inhibits HIV-1 transcription, and its genotype variation is associated with disease progression in adults. We tested the hypothesis that TRIM22 genotype is associated

Although recent clinical trials targeting amyloid-β in Alzheimer's disease have shown promising results, there is increasing evidence suggesting that understanding alternative disease pathways that interact with amyloid-β metabolism and amyloid pathology might be important to halt the clinical deterioration. In particular, there is evidence supporting a critical role of astroglial activation and a

Whilst mission-driven or hybrid organisations take various forms, they allshare the challenge of navigating contradictory goals to combine social and commercial benefits to different degrees (Shepherd et al., 2019). Social Enterprises (SEs) are a form of mission-driven organisation that prioritise meeting social needs by bringing goods, services or other benefits to economically or politically exc

A novel breath-alcohol analyzer based on the standardization of the breath alcohol concentration (BrAC) to the alveolar-air water vapour concentration has been developed and evaluated. The present study compares results with this particular breath analyzer with arterial blood alcohol concentrations (ABAC), the most relevant quantitative measure of brain alcohol exposure. The precision of analysis