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Okur-Chung neurodevelopmental syndrome in a patient from Spain.
Martinez-Monseny AF, Casas-Alba D, Arjona C, Bolasell M, Casano P, Muchart J, Ramos F, Martorell L, Palau F, García-Alix A, Serrano M. Martinez-Monseny AF, et al. Am J Med Genet A. 2020 Jan;182(1):20-24. doi: 10.1002/ajmg.a.61405. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729156
Here, we report a 5-year-old Spanish female with OCNS arising from a novel CSNK2A1 mutation c.149A>G, p.Tyr50Cys. Although her clinical features were compatible with OCNS syndrome, magnetic resonance imaging unexpectedly showed a duplication of the pituitary gland, a cl …
Here, we report a 5-year-old Spanish female with OCNS arising from a novel CSNK2A1 mutation c.149A>G, p.Tyr50Cys. Although her cli …
Water bend-libration as a cellular Raman imaging probe of hydration.
Ramos S, Lee JC. Ramos S, et al. Proc Natl Acad Sci U S A. 2023 Oct 17;120(42):e2313133120. doi: 10.1073/pnas.2313133120. Epub 2023 Oct 9. Proc Natl Acad Sci U S A. 2023. PMID: 37812697 Free PMC article.
Hydration maps reveal distinct water environments within subcellular compartments (e.g., nucleolus and lipid droplet) due to the spectral sensitivity of this coupled vibrational band. ...
Hydration maps reveal distinct water environments within subcellular compartments (e.g., nucleolus and lipid droplet) due to the spec …
Trends in the use of natural antioxidants in active food packaging: a review.
Sanches-Silva A, Costa D, Albuquerque TG, Buonocore GG, Ramos F, Castilho MC, Machado AV, Costa HS. Sanches-Silva A, et al. Food Addit Contam Part A Chem Anal Control Expo Risk Assess. 2014;31(3):374-95. doi: 10.1080/19440049.2013.879215. Epub 2014 Mar 4. Food Addit Contam Part A Chem Anal Control Expo Risk Assess. 2014. PMID: 24405324 Review.
In line with this, in the last few years, natural antioxidants such as alpha-tocopherol, caffeic acid, catechin, quercetin, carvacrol and plant extracts (e.g. rosemary extract) have been incorporated into food packaging. ...
In line with this, in the last few years, natural antioxidants such as alpha-tocopherol, caffeic acid, catechin, quercetin, carvacrol and pl …
Mechanistic insights on the reduction of glutathione disulfide by protein disulfide isomerase.
Neves RPP, Fernandes PA, Ramos MJ. Neves RPP, et al. Proc Natl Acad Sci U S A. 2017 Jun 13;114(24):E4724-E4733. doi: 10.1073/pnas.1618985114. Epub 2017 May 30. Proc Natl Acad Sci U S A. 2017. PMID: 28559343 Free PMC article.
We use classical molecular dynamics and hybrid quantum mechanics/molecular mechanics calculations at the mPW1N/6-311+G(2d,2p):FF99SB//mPW1N/6-31G(d):FF99SB level. The reaction proceeds in two stages: (i) a thiol-disulfide exchange through nucleophilic attack of the Cys53-t …
We use classical molecular dynamics and hybrid quantum mechanics/molecular mechanics calculations at the mPW1N/6-311+G(2d,2p):FF99SB/ …
Current use of pressurised liquid extraction and subcritical water extraction in environmental analysis.
Ramos L, Kristenson EM, Brinkman UA. Ramos L, et al. J Chromatogr A. 2002 Oct 25;975(1):3-29. doi: 10.1016/s0021-9673(02)01336-5. J Chromatogr A. 2002. PMID: 12458746 Review.
The results deriving from the analysis of several different classes of compounds in a variety of matrices are compared with a reference method, e.g., Soxhlet extraction. PLE and SWE are both promising techniques due to the short extraction times and low solvent consumption …
The results deriving from the analysis of several different classes of compounds in a variety of matrices are compared with a reference meth …
Stabilizing Effect of a 4c/6e Hypervalent Bond in Dinitrodiphenyl Disulfides and Their Thermochemical Properties: Experimental and Computational Approach.
Flores H, Ramos F, Hernández-Pérez JM, Solano-Altamirano JM, Camarillo EA, Sandoval-Lira J. Flores H, et al. J Phys Chem A. 2023 Jul 6;127(26):5534-5546. doi: 10.1021/acs.jpca.3c01624. Epub 2023 Jun 26. J Phys Chem A. 2023. PMID: 37365903 Free PMC article.
Their standard molar formation enthalpies in the gas phase (delta(f)H(m)()(g)'s) were experimentally determined; theoretically, they were computed using the G4 composite method and atomization reactions. Specifically, delta(f)H(m)()(g)'s were obtained by combining f …
Their standard molar formation enthalpies in the gas phase (delta(f)H(m)()(g)'s) were experimentally determined; theoretically, they …
Effects of gamma radiation on raspberries: safety and quality issues.
Verde SC, Trigo MJ, Sousa MB, Ferreira A, Ramos AC, Nunes I, Junqueira C, Melo R, Santos PM, Botelho ML. Verde SC, et al. J Toxicol Environ Health A. 2013;76(4-5):291-303. doi: 10.1080/15287394.2013.757256. J Toxicol Environ Health A. 2013. PMID: 23514071
Characterization of raspberries microbiota showed an average bioburden value of 10(4) colony-forming units (CFU)/g and a diverse microbial population predominantly composed of two morphological types (gram-negative, oxidase-negative rods, 35%, and filamentous fungi, 41%). …
Characterization of raspberries microbiota showed an average bioburden value of 10(4) colony-forming units (CFU)/g and a diverse micr …
Cardiovascular Efficacy and Safety of Bococizumab in High-Risk Patients.
Ridker PM, Revkin J, Amarenco P, Brunell R, Curto M, Civeira F, Flather M, Glynn RJ, Gregoire J, Jukema JW, Karpov Y, Kastelein JJP, Koenig W, Lorenzatti A, Manga P, Masiukiewicz U, Miller M, Mosterd A, Murin J, Nicolau JC, Nissen S, Ponikowski P, Santos RD, Schwartz PF, Soran H, White H, Wright RS, Vrablik M, Yunis C, Shear CL, Tardif JC; SPIRE Cardiovascular Outcome Investigators. Ridker PM, et al. N Engl J Med. 2017 Apr 20;376(16):1527-1539. doi: 10.1056/NEJMoa1701488. Epub 2017 Mar 17. N Engl J Med. 2017. PMID: 28304242 Free article. Clinical Trial.
A yeast functional screen predicts new candidate ALS disease genes.
Couthouis J, Hart MP, Shorter J, DeJesus-Hernandez M, Erion R, Oristano R, Liu AX, Ramos D, Jethava N, Hosangadi D, Epstein J, Chiang A, Diaz Z, Nakaya T, Ibrahim F, Kim HJ, Solski JA, Williams KL, Mojsilovic-Petrovic J, Ingre C, Boylan K, Graff-Radford NR, Dickson DW, Clay-Falcone D, Elman L, McCluskey L, Greene R, Kalb RG, Lee VM, Trojanowski JQ, Ludolph A, Robberecht W, Andersen PM, Nicholson GA, Blair IP, King OD, Bonini NM, Van Deerlin V, Rademakers R, Mourelatos Z, Gitler AD. Couthouis J, et al. Proc Natl Acad Sci U S A. 2011 Dec 27;108(52):20881-90. doi: 10.1073/pnas.1109434108. Epub 2011 Nov 7. Proc Natl Acad Sci U S A. 2011. PMID: 22065782 Free PMC article.
Specificity of native-like interhelical hydrophobic contacts in the apomyoglobin intermediate.
Kay MS, Ramos CH, Baldwin RL. Kay MS, et al. Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2007-12. doi: 10.1073/pnas.96.5.2007. Proc Natl Acad Sci U S A. 1999. PMID: 10051585 Free PMC article.
On exposure to mildly acidic conditions, apomyoglobin forms a partially folded intermediate, I. The A, B, G, and H helices are significantly structured in this equilibrium intermediate, whereas the remainder of the protein is largely unfolded. ...
On exposure to mildly acidic conditions, apomyoglobin forms a partially folded intermediate, I. The A, B, G, and H helices are signif …
43 results