Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly
ABSTRACT Synpolydactyly (SPD) is a heterogeneous distal‐limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease‐causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome‐negative
Jonathan Rips +9 more
wiley +1 more source
Prophinder, PHAST, PHASTER, ProphET and PhySpy sensitivity and PPV.
Prophinder, PHAST, PHASTER, ProphET and PhySpy sensitivity and PPV.
Abigail L. Manson (3817798) +4 more
core +1 more source
Weighing risks against GHG reduction benefits in emerging green technologies
Abstract Green technologies represent promising strategies for mitigating carbon emissions and combating global warming. However, their implementation in civil and industrial applications is not without risks, as intrinsic uncertainties and latent safety concerns can threaten their effective deployment.
Federica Tamburini +3 more
wiley +1 more source
Pharmacophore Alignment Search Tool (PhAST): Significance Assessment of Chemical Similarity.
Previously, we proposed a ligand-based virtual screening technique (PhAST) based on global alignment of linearized interaction patterns. Here, we applied techniques developed for similarity assessment in local sequence alignments to our method resulting ...
Schneider G +3 more
core +1 more source
Assessment and Management of Health and Safety Risks in the Transportation of Hazardous Materials Using TRRI and Modeling with PHAST and Pathfinder in Tehran (Case Study: Gasoline Transportation) [PDF]
Background and Objective: The transportation of dangerous materials can lead to catastrophic accidents in metropolises. Assessment of the risk of transporting such materials and determination of the consequences can prevent possible accidents and ...
Iraj Mohammadfam +4 more
doaj
Characterisation of the Historic Demographic Decline of the British European Polecat Population
ABSTRACT The European polecat (Mustela putorius) has a widespread distribution across many countries of mainland Europe but is documented to be declining within these ranges. In Britain, direct persecution led to a severe decline of the polecat population during the 19th century. Unlike European mainland populations, it is now recovering across much of
R. Shaw +4 more
wiley +1 more source
PHAST: A Fast Phage Search Tool
PHAge Search Tool (PHAST) is a web server designed to rapidly and accurately identify, annotate and graphically display prophage sequences within bacterial genomes or plasmids.
Y. Liang +9 more
core +1 more source
l‐serine levels in the human brain are maintained by the phosphorylated pathway, a three‐step process catalyzed by phosphoglycerate dehydrogenase (PHGDH), phosphoserine aminotransferase (PSAT) and phosphoserine phosphatase (PSP). These enzymes assemble in a metabolon called the serinosome. The double R27S/D32G PSP variant was identified in the brain of
Silvia Sacchi +10 more
wiley +1 more source
Risk Analysis of Sodium Hypochlorite Production Process
Sodium hypochlorite poses explosive hazards associated with its complex reactive chemistry. The production process of sodium hypochlorite consists of a first block where the chlorine, caustic soda and hydrogen are produced in an electrolytic cell from ...
Maria Portarapillo +3 more
doaj +1 more source
Risk analysis of ammonia release in food refrigeration Using FTA technique and fuzzy logic
The purpose of this research is to analyze the risk of ammonia release in the cold storage of one of the large food companies in Mashhad. This is an applied research that was done using FTA technique and fuzzy logic.
Leila Asghariazim
doaj +1 more source

