Seven patients with Smith-McCort Dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104248
Abstract: Smith-McCort dysplasia 2 (SMC2) is a rare spondylo-epiphyseal-metaphyseal dysplasia caused by biallelic RAB33B variants. Short trunk dwarfism and radiological findings including the lacy ilia appearance and double bumps of the vertebral bodies are typical features.… read more here.
Keywords: follow findings; mccort dysplasia; four novel; smith mccort ... See more keywords
Syntheses of four novel silicate-based nanomaterials from coal gangue for the capture of CO2
Sign Up to like & getrecommendations! Published in 2019 at "Fuel"
DOI: 10.1016/j.fuel.2019.116192
Abstract: Abstract As one of the most important approaches to reduce CO2 emission from various combustion processes, CO2 adsorption capture is facing several many challenges, including high adsorbent cost, high energy cost, and low CO2 selectivity.… read more here.
Keywords: adsorption; coal gangue; co2; silicate ... See more keywords
Robust and efficient zero liquid discharge design strategy using four novel desalination systems: A comprehensive 4E assessment
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Cleaner Production"
DOI: 10.1016/j.jclepro.2021.127362
Abstract: Abstract Discharging unconventional water sources having a high content of inorganic compounds is extremely destructive to the environment. In this research, four novel semi-open-air and closed-air configurations of brine-recycle humidification-dehumidification (BRHDH) systems with zero liquid… read more here.
Keywords: zero liquid; water; four novel; liquid discharge ... See more keywords
Four novel lanthanide(III) coordination complexes based on 3,4,5-trifluorobenzeneseleninic acid
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Solid State Chemistry"
DOI: 10.1016/j.jssc.2018.11.035
Abstract: Abstract Four novel isostructural lanthanide coordination complexes [Ln2(L)6(DMF)]n (Ln = Nd (1), Tb (2), Dy (3), Ho (4)) were successfully assembled under hydrothermal conditions with Ln3+ salts and 3,4,5-trifluorobenzeneseleninic acid (HL). All the complexes have… read more here.
Keywords: coordination complexes; four novel; trifluorobenzeneseleninic acid; lanthanide iii ... See more keywords
Structural diversity and fluorescent sensing of four novel complexes based on rigid terphenyl-3,3″,5,5″-tetracarboxylic acid
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Solid State Chemistry"
DOI: 10.1016/j.jssc.2019.03.047
Abstract: Abstract Based on H4TPTC and 1,2-bimb/1,3-bimb ligands, four novel complexes, namely, {[Cu(TPTC)(1,2-bimb)2]·4.5(H2O)}n (1), [Cu(TPTC)0.5(1,3-bimb)]n (2), {[Eu2(TPTC)1.5(H2O)4]·4.5(H2O)·2(1,4–DOX)}n (3) and {[Ce(TPTC)(H2O)4]·0.5(H2O)·0.5(1,4–DOX)}n (4) have been constructed under solvothermal conditions [H4TPTC = terphenyl-3,3″,5,5″-tetracarboxylic acid, 1,3-bimb = 1,3-bis (imidazol-1-ylmethyl) benzene, 1,2-bimb = 1,2-bis (imidazol-1-ylmethyl) benzene]. Complexes… read more here.
Keywords: tetracarboxylic acid; four novel; h2o; novel complexes ... See more keywords
Emericelactones A-D: Four novel polyketides produced by Emericella sp. XL 029, a fungus associated the leaves of Panax notoginseng
Sign Up to like & getrecommendations! Published in 2018 at "Tetrahedron Letters"
DOI: 10.1016/j.tetlet.2018.11.032
Abstract: Abstract The application of an OSMAC approach on an endophytic fungus Emericella sp. XL 029 has yielded four novel polyketides, emericelactones A-D (1–4). The structures and stereochemistry of 1–4 were elucidated by NMR and MS… read more here.
Keywords: fungus; emericelactones four; four novel; emericella 029 ... See more keywords
Synthesis and evaluation of four novel nitrogen-heterocyclic ruthenium polypyridyl complexes as photosensitizers for one and two-photon photodynamic therapy.
Sign Up to like & getrecommendations! Published in 2023 at "Dalton transactions"
DOI: 10.1039/d3dt00537b
Abstract: Four novel PSs (photosensitizers) of nitrogen-heterocyclic ruthenium polypyridyl complexes Ru(dip)2(o-pipppz)(PF6)2 (Ru1) (dip = 4,7-diphenyl-1,10-phenanthroline; o-pipppz = 1-(4-aldehydephenyl)-3-(pyridazyl-2-yl)-1H-pyrazole), Ru(dip)2(o-pipp) (PF6)2 (Ru2) (o-pipp = 1-(4-aldehydephenyl)-3-(pyrid-2-yl)-1H-pyrazole), Ru(dip)2(m-pipp)(PF6)2 (Ru3) (m-pipp = 1-(4-aldehydephenyl)-3-(pyrid-3-yl)-1H-pyrazole) and Ru(dip)2(p-pipp)(PF6)2 (Ru4) (p-pipp = 1-(4-aldehydephenyl)-3-(pyrid-4-yl)-1H-pyrazole) were… read more here.
Keywords: nitrogen heterocyclic; heterocyclic ruthenium; ruthenium polypyridyl; pipp ... See more keywords
Four novel mutations in the ALPL gene in Chinese patients with odonto, childhood, and adult hypophosphatasia
Sign Up to like & getrecommendations! Published in 2018 at "Bioscience Reports"
DOI: 10.1042/bsr20171377
Abstract: Hypophosphatasia (HPP) is a rare inherited disorder characterized by defective bone and/or dental mineralization, and decreased serum alkaline phosphatase (ALP) activity. ALPL, the only gene related with HPP, encodes tissue non-specific ALP (TNSALP). Few studies… read more here.
Keywords: adult; childhood; four novel; gene ... See more keywords
Antibacterial Properties of Four Novel Hit Compounds from a Methicillin-Resistant Staphylococcus aureus-Caenorhabditis elegans High-Throughput Screen.
Sign Up to like & getrecommendations! Published in 2018 at "Microbial drug resistance"
DOI: 10.1089/mdr.2017.0250
Abstract: There is an urgent need for the discovery of effective new antimicrobial agents to combat the rise of bacterial drug resistance. High-throughput screening (HTS) in whole-animal infection models is a powerful tool for identifying compounds… read more here.
Keywords: resistant staphylococcus; caenorhabditis elegans; four novel; methicillin resistant ... See more keywords
Structural and theoretical study of four novel norcantharidine derivatives: two new cases of conditional isomorphism.
Sign Up to like & getrecommendations! Published in 2020 at "Acta crystallographica. Section C, Structural chemistry"
DOI: 10.1107/s2053229619016164
Abstract: Structural and theoretical studies of four novel 5,6-dehydronorcantharidine (DNCA)/norcantharidine (NCA) derivatives, namely (3aR,4S,7R,7aS)-2-phenyl-3a,4,7,7a-tetrahydro-4,7-epoxy-1H-isoindole-1,3(2H)-dione, C14H11NO3 (DNCA-A), (3aR,4S,7R,7aS)-2-(4-nitrophenyl)-3a,4,7,7a-tetrahydro-4,7-epoxy-1H-isoindole-1,3(2H)-dione, C14H10N2O5 (DNCA-NA), (3aR,4S,7R,7aS)-2-(4-nitrophenyl)-3a,4,5,6,7,7a-hexahydro-1H-4,7-epoxyisoindole-1,3(2H)-dione, C14H12N2O5 (NCA-NA), and (3aR,4S,7R,7aS)-2-(2-hydroxyethyl)-3a,4,5,6,7,7a-hexahydro-1H-4,7-epoxyisoindole-1,3(2H)-dione, C10H13NO4 (NCA-AE), are reported. The supramolecular interactions and single-crystal structural characteristics of… read more here.
Keywords: crystal structures; four novel; 3ar 7as; structural theoretical ... See more keywords
Four novel silenced RHCE
Sign Up to like & getrecommendations! Published in 2018 at "Transfusion"
DOI: 10.1111/trf.14922
Abstract: T he ISBT (International Society of Blood Transfusion) documents more than 100 RHCE variant alleles. More than 20 encode RHCE null phenotypes with loss of expression of Cc/Ee antigens, most often recognized in samples homozygous… read more here.
Keywords: rhce; novel silenced; four novel; silenced rhce ... See more keywords