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Burden of Mortality and Disease Attributable to Multiple Air Pollutants in Warsaw, Poland.
Air pollution is a significant public health issue all over the world, especially in urban areas where a large number of inhabitants are affected. In this study, we quantify the health burden due to local air pollution for...
Air Pollution disability-adjusted life years (DALY) exposure Health Impact Assessment Mortality Adolescent Adult Aged Aged 80 and over Air Pollutants Air Pollution Benzene Benzo(a)pyrene carbon monoxide Child Child Preschool Environmental Monitoring Female Humans Male Metals Heavy Middle Aged Mortality Nitrogen Oxides Particulate Matter Poland Public Health Quality-Adjusted Life Years Sulfur Dioxide Young Adult
Intra-urban variability of the intake fraction from multiple emission sources.
BACKGROUND: Ambient air pollution and associated adverse health effects are among most acute environmental problems in many cities worldwide. The intake fraction (iF) approach can be applied for evaluating the health benefits of...
Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12.
BACKGROUND: Midface toddler excoriation syndrome (MiTES) is a condition recently reported in three unrelated children. Habitual scratching from the first year of life inflicted deep, chronic, scarring wounds around the nose and...
Likelihood-based molecular-replacement solution for a highly pathological crystal with tetartohedral twinning and sevenfold translational noncrystallographic symmetry.
Translational noncrystallographic symmetry (tNCS) is a pathology of protein crystals in which multiple copies of a molecule or assembly are found in similar orientations. Structure solution is problematic because this breaks the...
commensurate modulation maximum likelihood Molecular replacement pseudo-symmetry Translational Noncrystallographic Symmetry Anilino Naphthalenesulfonates Crystallography X-Ray Fluorescent Dyes Hypericum Ligands Likelihood Functions Models Molecular Plant Proteins Protein Binding Protein Conformation Protein Multimerization
Potential regulatory interactions of Escherichia coli RraA protein with DEAD-box helicases.
Members of the DEAD-box family of RNA helicases contribute to virtually every aspect of RNA metabolism, in organisms from all domains of life. Many of these helicases are constituents of multicomponent assemblies, and their...
Analytical Ultracentrifugation protein-protein interactions RNA helicase RNA-binding protein Regulator of Ribonuclease Activity A RhlB RraA SrmB X-ray crystallography Crystallography X-Ray DEAD-box RNA Helicases Endoribonucleases Escherichia coli Escherichia coli Proteins Models Molecular Protein Binding Protein Structure Quaternary Protein Structure Tertiary
The dimeric Golgi protein Gorab binds to Sas6 as a monomer to mediate centriole duplication.
Agnieszka Fatalska, Emma Stepinac, Magdalena Richter, Levente Kovacs, Zbigniew Pietras, Martin Puchinger, Gang Dong, Michal Dadlez, David M Glover
Mar 31, 2021
The duplication and ninefold symmetry of the Drosophila centriole requires that the cartwheel molecule, Sas6, physically associates with Gorab, a trans-Golgi component. How Gorab achieves these disparate associations is unclear....
Arylethynyltrifluoroborate Dienophiles for on Demand Activation of IEDDA Reactions.
Zbigniew Zawada, Zijian Guo, Bruno L Oliveira, Claudio D Navo, He Li, Pedro MSD Cal, Francisco Corzana, Gonzalo Jiménez-Osés, Gonçalo JL Bernardes
Jul 08, 2021
Strained alkenes and alkynes are the predominant dienophiles used in inverse electron demand Diels-Alder (IEDDA) reactions. However, their instability, cross-reactivity, and accessibility are problematic. Unstrained dienophiles...
Functional SNP allele discovery (fSNPd)
Kaitlin Stouffer, Michael Nahorski, Pablo Moreno, Nivedita Sarveswaran, David Menon, Michael Lee, C Geoffrey Woods
Feb 07, 2018
BACKGROUND: Significant human diseases/phenotypes exist which require both an environmental trigger event and a genetic predisposition before the disease/phenotype emerges, e.g. Carbamazepine with the rare SNP allele of...
Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development.
Michael S Nahorski, Georg HH Borner, Samiha S Shaikh, Alexandra K Davies, Lihadh Al-Gazali, Robin Antrobus, C Geoffrey Woods
Mar 14, 2018
The repertoire of cell types in the human nervous system arises through a highly orchestrated process, the complexity of which is still being discovered. Here, we present evidence that CHC22 has a non-redundant role in an early...
A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).
Samiha S Shaikh, Ya-Chun Chen, Sally-Anne Halsall, Michael S Nahorski, Kiyoyuki Omoto, Gareth T Young, Anne Phelan, Christopher Geoffrey Woods
Nov 28, 2016
CIPA NGF TRKA neuropathy Pain Alleles Cell Line Computational Biology DNA Mutational Analysis Gene Order Genetic Association Studies Genetic Loci Genetic Predisposition to Disease Genotype Glycosylation Hereditary Sensory and Autonomic Neuropathies Humans Molecular Imaging Mutation Missense Neurites Phospholipase C gamma Phosphorylation Protein Binding Protein Interaction Domains and Motifs Receptor trkA Recombinant Fusion Proteins Sequence Analysis DNA Signal Transduction
Neurodevelopmental protein Musashi-1 interacts with the Zika genome and promotes viral replication.
A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development.
Mutations in phospholipase C eta-1 ( PLCH1 ) are associated with holoprosencephaly
PEHO syndrome
Manali Chitre, Michael S Nahorski, Kaitlin Stouffer, Bryony Dunning-Davies, Hamish Houston, Emma L Wakeling, Angela F Brady, Sameer M Zuberi, Mohnish Suri, Alasdair PJ Parker, C Geoffrey Woods
Nov 22, 2018
BACKGROUND: Progressive encephalopathy, hypsarrhythmia and optic atrophy (PEHO) has been described as a clinically distinct syndrome. It has been postulated that it is an autosomal recessive condition. However, the aetiology is...
Developmental epilepsy and seizures Genetics Neurology Age Factors Alleles Biomarkers Brain Edema Child Preschool Electroencephalography Epilepsy Facies Female Genetic Association Studies Genetic Predisposition to Disease Genetic Testing Genotype Humans Infant Infant Newborn Magnetic Resonance Imaging Male Mutation Neurodegenerative Diseases Optic Atrophy Pedigree Phenotype Spasms Infantile
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly.
Human Labor Pain Is Influenced by the Voltage-Gated Potassium Channel KV6.4 Subunit.
Michael C Lee, Michael S Nahorski, James RF Hockley, Van B Lu, Gillian Ison, Luke A Pattison, Gerard Callejo, Kaitlin Stouffer, Emily Fletcher, Christopher Brown, Ichrak Drissi, Daniel Wheeler, Patrik Ernfors, David Menon, Frank Reimann, Ewan St John Smith, C Geoffrey Woods
Jul 02, 2020
labor pain nociception Pain Kv6.4 quantitative sensory testing DRG neuron exome sequencing Adult Alleles Amino Acid Sequence Analgesics Animals Base Sequence Cell Membrane Cognition Cohort Studies Emotions Female Ganglia Spinal Heterozygote Humans Ion Channel Gating Labor Pain Male Mice Inbred C57BL Models Biological Mutation Nociceptors Pain Threshold Polymorphism Single Nucleotide Potassium Channels Voltage-Gated Pregnancy Protein Multimerization Protein Subunits Sensory Receptor Cells Shab Potassium Channels Subcellular Fractions Uterus
Mutations in phospholipase C eta-1 ( PLCH1 ) are associated with holoprosencephaly
Consensus-based technical recommendations for clinical translation of renal BOLD MRI
Octavia Bane, Iosif A. Mendichovszky, Bastien Milani, Ilona A. Dekkers, Jean-Francois Deux, Per Eckerbom, Nicolas Grenier, Michael E. Hall, Tsutomu Inoue, Christoffer Laustsen, Lilach O. Lerman, Chunlei Liu, Glen Morrell, Michael Pedersen, Menno Pruijm, Elizabeth A. Sadowski, Erdmann Seeliger, Kanishka Sharma, Harriet Thoeny, Peter Vermathen, Zhen J. Wang, Zbigniew Serafin, Jeff L. Zhang, Susan T. Francis, Steven Sourbron, Andreas Pohlmann, Sean B. Fain, Pottumarthi V. Prasad
Jun 06, 2020
Abstract: Harmonization of acquisition and analysis protocols is an important step in the validation of BOLD MRI as a renal biomarker. This harmonization initiative provides technical recommendations based on a consensus report...
Published by: Springer International Publishing
Consensus-based technical recommendations for clinical translation of renal BOLD MRI.
Octavia Bane, Iosif A Mendichovszky, Bastien Milani, Ilona A Dekkers, Jean-Francois Deux, Per Eckerbom, Nicolas Grenier, Michael E Hall, Tsutomu Inoue, Christoffer Laustsen, Lilach O Lerman, Chunlei Liu, Glen Morrell, Michael Pedersen, Menno Pruijm, Elizabeth A Sadowski, Erdmann Seeliger, Kanishka Sharma, Harriet Thoeny, Peter Vermathen, Zhen J Wang, Zbigniew Serafin, Jeff L Zhang, Susan T Francis, Steven Sourbron, Andreas Pohlmann, Sean B Fain, Pottumarthi V Prasad
Nov 24, 2020
Harmonization of acquisition and analysis protocols is an important step in the validation of BOLD MRI as a renal biomarker. This harmonization initiative provides technical recommendations based on a consensus report with the...
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
Michael S Nahorski, Sateesh Maddirevula, Ryosuke Ishimura, Saud Alsahli, Angela F Brady, Anaïs Begemann, Tsunehiro Mizushima, Francisco J Guzmán-Vega, Miki Obata, Yoshinobu Ichimura, Hessa S Alsaif, Shams Anazi, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Dorota Monies, Mohamed Abouelhoda, Brian F Meyer, Majid Alfadhel, Wafa Eyaid, Markus Zweier, Katharina Steindl, Anita Rauch, Stefan T Arold, C Geoffrey Woods, Masaaki Komatsu, Fowzan S Alkuraya
Apr 30, 2018
The post-translational modification of proteins through the addition of UFM1, also known as ufmylation, plays a critical developmental role as revealed by studies in animal models. The recent finding that biallelic mutations in...
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