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154 results on '"Dumitriu S"'

9. The Matchmaker Exchange: a platform for rare disease gene discovery

Author

Philippakis, A.A., Azzariti, D.R., Beltran, S., Brookes, A.J., Brownstein, C.A., Brudno, M., Brunner, H.G., Buske, O.J., Carey, K., Doll, C., Dumitriu, S., Dyke, S.O.M., Dunnen, J.T. den, Firth, H.V., Gibbs, R.A., Girdea, M., Gonzalez, M., Haendel, M.A., Hamosh, A., Holm, I.A., Huang, L., Hurles, M.E., Hutton, B., Krier, J.B., Misyura, A., Mungall, C.J., Paschall, J., Paten, B., Robinson, P.N., Schiettecatte, F., Sobreira, N.L., Swaminathan, G.J., Taschner, P.E.M., Terry, S.F., Washington, N.L., Zuchner, S., Boycott, K.M., Rehm, H.L., Philippakis, A.A., Azzariti, D.R., Beltran, S., Brookes, A.J., Brownstein, C.A., Brudno, M., Brunner, H.G., Buske, O.J., Carey, K., Doll, C., Dumitriu, S., Dyke, S.O.M., Dunnen, J.T. den, Firth, H.V., Gibbs, R.A., Girdea, M., Gonzalez, M., Haendel, M.A., Hamosh, A., Holm, I.A., Huang, L., Hurles, M.E., Hutton, B., Krier, J.B., Misyura, A., Mungall, C.J., Paschall, J., Paten, B., Robinson, P.N., Schiettecatte, F., Sobreira, N.L., Swaminathan, G.J., Taschner, P.E.M., Terry, S.F., Washington, N.L., Zuchner, S., Boycott, K.M., and Rehm, H.L.

Abstract

Item does not contain fulltext, There are few better examples of the need for data sharing than in the rare disease community, where patients, physicians, and researchers must search for "the needle in a haystack" to uncover rare, novel causes of disease within the genome. Impeding the pace of discovery has been the existence of many small siloed datasets within individual research or clinical laboratory databases and/or disease-specific organizations, hoping for serendipitous occasions when two distant investigators happen to learn they have a rare phenotype in common and can "match" these cases to build evidence for causality. However, serendipity has never proven to be a reliable or scalable approach in science. As such, the Matchmaker Exchange (MME) was launched to provide a robust and systematic approach to rare disease gene discovery through the creation of a federated network connecting databases of genotypes and rare phenotypes using a common application programming interface (API). The core building blocks of the MME have been defined and assembled. Three MME services have now been connected through the API and are available for community use. Additional databases that support internal matching are anticipated to join the MME network as it continues to grow.

Published
2015

15. Electrospinning for regenerative medicine

Author

Popa, V, Dumitriu, S, Brown, Toby, Vaquette, Cedryck, Hutmacher, Dietmar, Dalton, Paul, Popa, V, Dumitriu, S, Brown, Toby, Vaquette, Cedryck, Hutmacher, Dietmar, and Dalton, Paul

Published
2013

18. Immobilization of Enzymes into a Polyionic Hydrogel: ChitoXan

Author

UCL - SST/IMCN - Institute of Condensed Matter and Nanosciences, Magnin, Delphine, Dumitriu, S., Chornet, E., UCL - SST/IMCN - Institute of Condensed Matter and Nanosciences, Magnin, Delphine, Dumitriu, S., and Chornet, E.

Abstract

hree enzymes were immobilized onto polyionic hydrogel, ChitoXan, obtained by complexation between chitosan and xanthan. The biocatalysts used were two proteases (protease type XIX from Fungal d’Aspergillus sojae and the trypsin type II.S from Porcine Pancreas) and a lipase (lipase Type VII from Candida rugosa). The immobilization efficiencies and the relative activities were investigated for these enzymes. The immobilization efficiencies changed with each enzyme and varied between 53 and 80%. Good relative activities were found for the lipase Type VII from Candida rugosa and the protease type XIX from Fungal d’Aspergillus sojae. For the latter, the influence of several factors were studied: molarity of the storage buffer, storage temperature and time of hydrogel, and the enzyme concentration. For the immobilized lipase, hydrolysis of olive oil in aqueous and organic media has been compared. This study confirmed that the lipase modified the external and internal structure of the hydrogel from fibrillar to the formation of globular structures in the presence of lipases.

Published
2003

37. Foraminiferal, ostracod, and calcareous nannofossil biostratigraphy of the latest Badenian – Sarmatian interval (Middle Miocene, Paratethys) from Poland, Romania and the Republic of Moldova

Author

Dumitriu Simina Dumitriţa, Loghin Sergiu, Dubicka Zofia, Melinte-Dobrinescu Mihaela Carmen, Paruch-Kulczycka Jolanta, and Ionesi Viorel

Subjects
Central Paratethys, Badenian-Sarmatian boundary, Carpathian Foredeep, foraminifera, ostracoda, calcareous nannofossils, Geology, QE1-996.5
Abstract

This study presents detailed foraminiferal, ostracod, and calcareous nannofossil analyses of five Middle Miocene sections located in the Central Paratethyan realm, namely in Poland, Romania and the Republic of Moldova. Based on foraminiferal distribution, five biostratigraphically important assemblages (labelled A-E) are distinguished. Foraminifera data combined with ostracoda and nannofossil evidence allowed correlation between the studied sections, and a comparison with the deposits of similar age from the Transylvanian, Vienna and Pannonian basins, as well as with the Transcarpathian regions. The micropaleontological record across the Badenian-Sarmatian boundary interval is also presented.

Published
2017
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38. Bifunctional initiators.

Author

Shaikh, A., Dumitriu, S., Comăniţă, Eugenia, and Simionescu, C.

Abstract

Poly(methylmethacrylate-b-styrene) and poly(methylmetha-crylate-b-acrylonitrile) block copolymers are synthesized by means of the 4,4′-azo-bis-(4-cynovaleryl)-benzoyldiperoxide. In the first stage a polymethylme-thacrylate prepolymer is synthesized using the above mentioned initiator.The prepolymer containing peroxide end groups is employed in the second stage for the block copolymerization of styrene or acrylonitrile.The block copolymer structure was elucidated by means of IR and NMR spectral measurements. [ABSTRACT FROM AUTHOR]

Published
1980
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39. Mutation analysis of the MECP2 gene in Romanian females with Rett syndrome

Author

Dumitriu Simona, Klootwijk Enriko, Issler Naomi, Stanescu Horia, Kleta Robert, and Puiu Maria

Subjects
mecp2 mutation, rett syndrome, sequencing, protocol, mutatii, mecp2, sindrom rett, Medicine
Abstract

Descoperirea genei methyl-CpG binding protein 2 (MECP2) situate pe cromozomul Xq28 ca fiind implicata in producerea Sindromului Rett (RTT) a fost urmata de asocierea unui spectru de fenotipuri cu mutatiile acestei gene. Distributia mutatiilor MECP2 a fost studiata in diverse populatii, doar recent acest studiu fiind ini- tiat in Romania. Am initiat primul studiu localizat pentru identificarea mutatiilor genei MECP2 utilizand PCR si secventiere Sanger. Am investigat 9 paciente, din zona de vest a tarii, 7 prezentand forma clasica de RTT si 2 prezentand forme atipice, provenite. Screeningul mutatiilor a relevat 3 mutatii diferite, prezente la 4 paciente si 5 variatii genetice nonpatogenice. Una dintre mutatiile detectate, deletia unei nucleotide in pozitia 225 (c.225delG) nu a mai fost descrisa anterior. Rata de detectie a mutatiilor in studiul nostru a fost de 44%. In aceast studiu ne-am centrat pe o abordare practica necesara geneticianului molecular in cadrul procesului de screening al mutatiilor genei MECP2 la pacientii cu RTT. Dezideratul nostru este de a extinde protocolul de screening al mutatiilor MECP2 la cazurile de tulburari asociate genei MECP2, de a oferi diagnostic prenatal, si de a-l completa cu alte tehnici care pot detecta rearanjamente ale genei MECP2.

Published
2013
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40. Über den Mechanismus und die Kinetik der Methan- und Ammoniakzersetzung im kalten Plasma / The Mechanism and Kinetics of Methane and Ammonia Decomposition in Cold Plasma

Author

Simionescu, Cr., Dumitriu, S., Bulacovschi, V., and Onac, D.

Abstract

We have investigated the kinetics of methane-ammonia mixture decomposition in a cold plasma. Among the products of methane decomposition H2, C2H6, C2H4and C2H2were identified. Their ratio was dependent on time and discharge of the used power in the experiments. When the ammonia was used as medium, there were identified only H2and hydrazine as reaction products. For the CH4-NH3mixture among the decomposition gases we could find hydrogen cyanide, ethylamine, methylamine and other aliphatic amines.

Published
1975
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41. Mechanismus und Kinetik der Zersetzung von Methan-Wasser-Gemischen im kalten Plasma.

Author

Simionescu, Cr. I., Dumitriu, S., and Popa, V. I.

Abstract

In the present paper the mechanism and kinetics of methane-water mixtures decomposition in cold plasma are discussed. It was found that nature and composition of the products depend on reaction time, ratio of the two components, and how long the products are in contact after the decomposition was performed.

Published
1976
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42. Molekulare Reaktionen in kalten Methan-Wasser-Plasmen und die Wirkung von UV-Bestrahlung / Molecular Reactions in Cold Methane-Water Plasma and the Effect of UV Irradiation

Author

Simionescu, Cr., Dumitriu, S., Bulacovschi, V., Popa, V. I., and Simionescu, B.

Abstract

After passage of methane-water mixtures through the state of a cold plasma, numerous products were identified, especially aldehydes, ketones, alcohols and acids. Their concentration was dependent on the methane/water ratio. Irradiation with UV light during or after the process gave transformations of the above compounds to more complex combinations. For the formation of ketones, aldehydes, alcohols and acids a detailed mechanism is proposed.

Published
1978
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43. Bioactive Polymers, XIV. Immobilization of Ampicillin on BIOZAN R

Author

Simionescu, Cr., Popa, M. I., and Dumitriu, S.

Abstract

The ampicillin coupling on BIOZAN R (a polysaccharide of microbial synthesis Xanthomonas campestris) is studied by the activation of carboxylic groups by dicyclohexylcarbodiimide. The following optimum reaction parameters are settled on the basis of an experimental program: time = 7.5 h, temperature = 10 °C, dicyclohexylcarbodiimide concentration = 1.10-3mole, ampicilline concentration = 2.4·10-3mol. Under these conditions up to 37% of ampicillin with respect to the polymer is coupled.

Published
1984
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44. Immobilization of Xylanase in Chitosan−Xanthan Hydrogels

Author

Dumitriu, S. and Chornet, E.

Abstract

endo-1,4-β-Xylanase (E.C. 3.2.1.8) has been immobilized in hydrogel beads prepared by complexation between chitosan and xanthan. The enzyme immobilization efficiency is between 88 and 98% within a wide range of concentrations of xylanase. The optimum xylanase activity requires a pH between 5.0 and 5.5. The immobilized enzymes show 60−70% higher activity than free enzymes. The Km of the immobilized xylanase increases with the concentration of the enzyme in the beads. The latter show, by electron microscopy, a predominantly fibrilar microstructure within which there are regions having globular shapes where the enzymes are lodged.

Published
1997

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