Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis
Sign Up to like & getrecommendations! Published in 2018 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.568
Abstract: Truncating mutations in PRNP have been associated with heterogeneous phenotypes ranging from chronic diarrhea and neuropathy to dementia, either rapidly or slowly progressive. We identified novel PRNP stop‐codon mutations (p.Y163X, p.Y169X) in two Italian kindreds.… read more here.
Keywords: broaden spectrum; truncating mutations; mutations broaden; novel prnp ... See more keywords
Two Novel Dinuclear Cobalt Polypyridyl Complexes in Electro‐ and Photocatalysis for Hydrogen Production: Cooperativity Increases Performance
Sign Up to like & getrecommendations! Published in 2022 at "Chemsuschem"
DOI: 10.1002/cssc.202201049
Abstract: Abstract Syntheses and mechanisms of two dinuclear Co‐polypyridyl catalysts for the H2 evolution reaction (HER) were reported and compared to their mononuclear analogue (R1). In both catalysts, two di‐(2,2’‐bipyridin‐6‐yl)‐methanone units were linked by either 2,2’‐bipyridin‐6,6’‐yl… read more here.
Keywords: polypyridyl; novel dinuclear; dinuclear cobalt; production ... See more keywords
Identification of two novel isoforms of mouse NUR77 lacking N‐terminal domains
Sign Up to like & getrecommendations! Published in 2017 at "IUBMB Life"
DOI: 10.1002/iub.1605
Abstract: Nur77 is a member of nuclear receptor superfamily that acts as a transcription factor and regulates expression of multiple genes. Subcellular localization of Nur77 protein plays an important role in the survival and cell death.… read more here.
Keywords: nur77 lacking; novel isoforms; mouse nur77; isoforms mouse ... See more keywords
Two novel recombinant human mastadenovirus D genotypes associated with acute respiratory illness
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Medical Virology"
DOI: 10.1002/jmv.28653
Abstract: Two novel genotypes of species human mastadenovirus D designated 109 and 110 were isolated from three epidemiologically unrelated cases of acute respiratory disease detected in January 2018 by surveillance efforts at the California/Mexico border. Both… read more here.
Keywords: acute respiratory; two novel; human mastadenovirus; type ... See more keywords
Phenotypic Variability with Two Novel Variants in SPG15: Catching the Lynx by its Ears
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13474
Abstract: Hereditary spastic paraplegia (HSP) syndrome is a group of inherited, progressive, neurodegenerative disorders with clinical, radiological, and genetic heterogeneity. The core clinical feature is lower limb spasticity with variable dorsal column involvement. However, other neurological… read more here.
Keywords: variability two; novel variants; phenotypic variability; two novel ... See more keywords
Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1105
Abstract: Skeletal disorders, which have great genotypic and phenotypic varieties, are a considerable challenge to differentiate these diseases and provide a definitive prenatal diagnosis or pre‐implantation. The present study aims to identify the causative mutation in… read more here.
Keywords: col1a1 fetal; mutations col1a1; novel mutations; genetic skeletal ... See more keywords
Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1217
Abstract: The objective of this study was to investigate the genetic causes of two probands diagnosed as Waardenburg syndrome (WS type I and IV) from two unrelated Chinese families. read more here.
Keywords: pax3 sox10; novel mutations; mutations pax3; waardenburg syndrome ... See more keywords
Two novel deleterious variants of Angiotensin‐I‐converting Enzyme gene identified in a family with recurrent anhydramnios
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1239
Abstract: Anhydramnios results from the poor development of the placenta or problems with intrauterine development of the kidneys or urinary tract. Complete lack of amniotic fluid indicates a severe problem with the organs of the urinary… read more here.
Keywords: deleterious variants; variants angiotensin; angiotensin converting; converting enzyme ... See more keywords
Two novel cyanobacterial α-dioxygenases for the biosynthesis of fatty aldehydes
Sign Up to like & getrecommendations! Published in 2021 at "Applied Microbiology and Biotechnology"
DOI: 10.1007/s00253-021-11724-x
Abstract: α-Dioxygenases (α-DOXs) are known as plant enzymes involved in the α-oxidation of fatty acids through which fatty aldehydes, with a high commercial value as flavor and fragrance compounds, are synthesized as products. Currently, little is… read more here.
Keywords: biosynthesis; two novel; doxs; fatty acids ... See more keywords
Two novel Alphaflexiviridae members revealed by deep sequencing of the Vanilla (Orchidaceae) virome
Sign Up to like & getrecommendations! Published in 2017 at "Archives of Virology"
DOI: 10.1007/s00705-017-3540-9
Abstract: The genomes of two novel viruses were assembled from 454 pyrosequencing data obtained from vanilla leaves from La Réunion. Based on genome organization and homologies, one agent was unambiguously classified as a member of the… read more here.
Keywords: members revealed; novel alphaflexiviridae; alphaflexiviridae members; two novel ... See more keywords
Analysis of two novel 1–4 quinolinone structures with bromine and nitrobenzyl ligands
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Molecular Modeling"
DOI: 10.1007/s00894-019-3937-3
Abstract: The scientific community has shown particular interest in the study of quinolinones—a class of bicyclic organic compounds. An example of these compounds are the 4-quinolinones, considered to be very useful building blocks, since they can… read more here.
Keywords: novel quinolinone; structures bromine; quinolinone structures; bromine nitrobenzyl ... See more keywords