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Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina HZ Li, Robert A Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna Weener, Theresia Zuleger, Tobias B Haack, Katarina Stingl, Genomics England Research Consortium, Carel B Hoyng, Omar A Mahroo, Iain Hargreaves, F Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R Webster, Gavin Arno
Oct 24, 2022
The aim of this study was to investigate coenzyme Q10 (CoQ10) biosynthesis pathway defects in inherited retinal dystrophy. Individuals affected by inherited retinal dystrophy (IRD) underwent exome or genome sequencing for...
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina HZ Li, Robert A Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna Weener, Theresia Zuleger, Tobias B Haack, Katarina Stingl, Genomics England Research Consortium, Carel B Hoyng, Omar A Mahroo, Iain Hargreaves, F Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R Webster, Gavin Arno
Nov 20, 2022
The aim of this study was to investigate coenzyme Q10 (CoQ10) biosynthesis pathway defects in inherited retinal dystrophy. Individuals affected by inherited retinal dystrophy (IRD) underwent exome or genome sequencing for...
Ethical Dilemmas and Big Data
Using big data in organizations has the potential to improve innovation, accuracy, and efficiency. Big data is also connected with risks for both the organization and society at large. It is therefore vital to improve our...
Published by: IGI Global Scientific Publishing
Match-Making Reactors to Chemistry
Flavien Susanne, Benjamin Martin, Michel Aubry, Joerg Sedelmeier, Fabio Lima, Serbuelent Sevinc, Lorenzo Piccioni, Julien Haber, Berthold Schenkel, Francesco Venturoni
Jan 25, 2018
The focus of this study was to develop a chemical reaction sequence toward a key benzoxazole building block, required for clinical manufacturing of a lead candidate in the respiratory disease area. The chemistry consisted of...
The Tocque Formula and Newfoundland English
Susanne Wagner
Sep 30, 2014
Summer settlements had been established on the island of Newfoundland since at least the 17th century. A dominion of the British Crown, Newfoundland entered Confederation as the tenth Canadian province (Newfoundland and...
Published by: Atlantic Provinces Linguistic Association
Ready or Not (To Apply)? Autoregulatory Dysfunction Indices and Lesion Progression in Traumatic Brain Injury.
Susanne Muehlschlegel
Jan 06, 2020
Failure of cerebral autoregulation has been linked to unfavourable outcome after traumatic brain injury. Preliminary evidence from a small retrospective single-center analysis suggest that autoregulatory dysfunction may be...
Academic temporalities
This article focuses on academic temporalities to consider the rhythms, repetitions and discontinuities of academic work. Using a photo-serial methodology which generated an archive of images taken at the same time of day for...
The Tocque Formula and Newfoundland English
Susanne Wagner
Sep 30, 2014
Summer settlements had been established on the island of Newfoundland since at least the 17th century. A dominion of the British Crown, Newfoundland entered Confederation as the tenth Canadian province (Newfoundland and...
Published by: Atlantic Provinces Linguistic Association
Mutations of the nACh Receptor M4 Helix Reveal Different Phenotypes in Different Expression Systems
The role of the outermost helix (M4) in the pentameric ligand-gated ion channel (pLGIC) family is currently not fully understood. It is known that M4 is important for receptor assembly, possibly via interactions with neighboring...
Transporters as information processors in bacterial signalling pathways
Transporters are essential players in bacterial growth and survival, since they are key for uptake of nutrients on the one hand, and for defence against endogenous and environmental stresses on the other hand. Remarkably, in...
Academic temporalities
This article focuses on academic temporalities to consider the rhythms, repetitions and discontinuities of academic work. Using a photo-serial methodology which generated an archive of images taken at the same time of day for...
Genetic Optimisation of Bacteria-Induced Calcite Precipitation in <i>Bacillus subtilis</i>
Background
Microbially induced calcite precipitation (MICP) is an ancient property of bacteria, which has recently gained considerable attention for biotechnological applications. It occurs as a by-product of bacterial...
Microbially induced calcite precipitation (MICP) is an ancient property of bacteria, which has recently gained considerable attention for biotechnological applications. It occurs as a by-product of bacterial...
An evolutionarily conserved stop codon enrichment at the 5′ ends of mammalian piRNAs
Abstract: PIWI-interacting RNAs (piRNAs) are small RNAs required to recognize and silence transposable elements. The 5’ ends of mature piRNAs are defined through cleavage of long precursor transcripts, primarily by Zucchini...
A Sensory Complex Consisting of an ATP-Binding-Cassette Transporter and a Two-Component Regulatory System Controls Bacitracin Resistance in <em>Bacillus subtilis</em>
Resistance against antimicrobial peptides in many Firmicutes bacteria is mediated by detoxification systems that are composed of a two-component regulatory system (TCS) and an ATP-binding cassette (ABC) transporter. The...
Is mRNA decapping by ApaH like phosphatases present in eukaryotes beyond the Kinetoplastida?
BACKGROUND: ApaH like phosphatases (ALPHs) originate from the bacterial ApaH protein and have been identified in all eukaryotic super-groups. Only two of these proteins have been functionally characterised. We have shown that...
Transporters as information processors in bacterial signalling pathways
Transporters are essential players in bacterial growth and survival, since they are key for uptake of nutrients on the one hand, and for defence against endogenous and environmental stresses on the other hand. Remarkably, in...
Aerobic non-ureolytic bacteria-based self-healing cementitious composites
The use of bacteria for self-healing cement-based materials has shown great potential in recent years. Microbially induced calcium carbonate precipitation (MICP) is a novel technology that relies on the metabolic activity of...
Bacteria concrete MICP Non-ureolytic Self-healing /dk/atira/pure/subjectarea/asjc/2200/2205 name=Civil and Structural Engineering /dk/atira/pure/subjectarea/asjc/2200/2216 name=Architecture /dk/atira/pure/subjectarea/asjc/2200/2215 name=Building and Construction /dk/atira/pure/subjectarea/asjc/2200/2213 name=Safety, Risk, Reliability and Quality /dk/atira/pure/subjectarea/asjc/2200/2211 name=Mechanics of Materials
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