Search Results - "Modamio"

Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1‐related by Ramos‐Mejía, Rosario, Heath, Karen E., Modamio‐Høybjør, Silvia, Huckstadt, Victoria, Calcagni, Julián, Remondino, Rodrigo, Fano, Virginia

“…The autosomal dominant spondylometaphyseal dysplasia Sutcliff type or corner fracture type FN1‐related is characterized by a combination of metaphyseal…”
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Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss by Modamio-Høybjør, Silvia, Morín, Matías, Moreno, Felipe, Mayo-Merino, Fernando, Moreno-Pelayo, Miguel Ángel, Steel, Karen P, Dalmay, Tamas, Mencía, Ángeles, Redshaw, Nick, Aguirre, Luis A, Olavarrieta, Leticia, del Castillo, Ignacio

“…MicroRNAs (miRNAs) bind to complementary sites in their target mRNAs to mediate post-transcriptional repression, with the specificity of target recognition…”
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Precocious puberty and anal stenosis in an African patient with Rothmund–Thomson syndrome by Lorenzo, Cristina, Travessa, André, Ferreira, Ana Cristóvão, Modamio‐Høybjør, Silvia, Heath, Karen E., Pereira, Carla

“…© 2022 Wiley Periodicals LLC. Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by a rash that progresses to poikiloderma…”
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Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases by Díaz‐González, Francisca, Parrón‐Pajares, Manuel, Lucas‐Castro, Elsa, Modamio‐Høybjør, Silvia, Sentchordi‐Montané, Lucia, Seidel, Verónica, Prieto, Pablo, Tarraso‐Urios, Guillermo, Codina‐Sola, Marta, Cueto‐González, Anna M., Ballesta‐Martínez, Mary J., Santos‐Simarro, Fernando, Sousa, Sergio B., Heath, Karen E.

“…Spondyloepimetaphyseal dysplasia (SEMD), RPL13‐related is caused by heterozygous variants in RPL13, which encodes the ribosomal protein eL13, a component of…”
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Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing by Bonafont, Jose, Mencía, Ángeles, García, Marta, Torres, Raúl, Rodríguez, Sandra, Carretero, Marta, Chacón-Solano, Esteban, Modamio-Høybjør, Silvia, Marinas, Lucía, León, Carlos, Escamez, María J., Hausser, Ingrid, Del Río, Marcela, Murillas, Rodolfo, Larcher, Fernando

“…Gene editing constitutes a novel approach for precisely correcting disease-causing gene mutations. Frameshift mutations in COL7A1 causing recessive dystrophic…”
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Reproducible generation of human midbrain organoids for in vitro modeling of Parkinson’s disease by Nickels, Sarah Louise, Modamio, Jennifer, Mendes-Pinheiro, Bárbara, Monzel, Anna Sophia, Betsou, Fay, Schwamborn, Jens Christian

“…The study of human midbrain development and midbrain related diseases, like Parkinson’s disease (PD), is limited by deficiencies in the currently available and…”
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Evolution of Resistance to a Last-Resort Antibiotic in Staphylococcus aureus via Bacterial Competition by Koch, Gudrun, Yepes, Ana, Förstner, Konrad U., Wermser, Charlotte, Stengel, Stephanie T., Modamio, Jennifer, Ohlsen, Knut, Foster, Kevin R., Lopez, Daniel

“…Antibiotic resistance is a key medical concern, with antibiotic use likely being an important cause. However, here we describe an alternative route to…”
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NEDA—NEutron Detector Array by Valiente-Dobón, J.J., Jaworski, G., Goasduff, A., Egea, F.J., Modamio, V., Hüyük, T., Triossi, A., Jastrząb, M., Söderström, P.A., Di Nitto, A., de Angelis, G., de France, G., Erduran, N., Gadea, A., Moszyński, M., Nyberg, J., Palacz, M., Wadsworth, R., Aliaga, R., Aufranc, C., Bézard, M., Baulieu, G., Bissiato, E., Boujrad, A., Burrows, I., Carturan, S., Cocconi, P., Colucci, G., Conventi, D., Cordwell, M., Coudert, S., Deltoro, J.M., Ducroux, L., Dupasquier, T., Ertürk, S., Fabian, X., González, V., Grant, A., Hadyńska-Klęk, K., Illana, A., Jurado-Gomez, M.L., Kogimtzis, M., Lazarus, I., Legeard, L., Ljungvall, J., Pasqualato, G., Pérez-Vidal, R.M., Raggio, A., Ralet, D., Redon, N., Saillant, F., Sayğı, B., Sanchis, E., Scarcioffolo, M., Siciliano, M., Testov, D., Stezowski, O., Tripon, M., Zanon, I.

“…The NEutron Detector Array, NEDA, will form the next generation neutron detection system that has been designed to be operated in conjunction with γ-ray…”
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Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects by Díaz-González, Francisca, Sentchordi-Montané, Lucía, Lucas Castro, Elsa, Modamio-Høybjør, Silvia, Heath, Karen E

“…Heterozygous Indian Hedgehog gene (IHH) variants are associated with brachydactyly type A1 (BDA1). However, in recent years, numerous variants have been…”
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Strong enhancement of level densities in the crossover from spherical to deformed neodymium isotopes by Guttormsen, M., Alhassid, Y., Ryssens, W., Ay, K.O., Ozgur, M., Algin, E., Larsen, A.C., Bello Garrote, F.L., Crespo Campo, L., Dahl-Jacobsen, T., Görgen, A., Hagen, T.W., Ingeberg, V.W., Kheswa, B.V., Klintefjord, M., Midtbø, J.E., Modamio, V., Renstrøm, T., Sahin, E., Siem, S., Tveten, G.M., Zeiser, F.

“…Understanding the evolution of level densities in the crossover from spherical to well-deformed nuclei has been a long-standing problem in nuclear physics. We…”
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Neutron detection and γ-ray suppression using artificial neural networks with the liquid scintillators BC-501A and BC-537 by Söderström, P.-A., Jaworski, G., Valiente Dobón, J.J., Nyberg, J., Agramunt, J., de Angelis, G., Carturan, S., Egea, J., Erduran, M.N., Ertürk, S., de France, G., Gadea, A., Goasduff, A., González, V., Hadyńska-Klȩk, K., Hüyük, T., Modamio, V., Moszynski, M., Di Nitto, A., Palacz, M., Pietralla, N., Sanchis, E., Testov, D., Triossi, A., Wadsworth, R.

“…In this work we present a comparison between the two liquid scintillators BC-501A and BC-537 in terms of their performance regarding the pulse-shape…”
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Neutron Skin Effects in Mirror Energy Differences: The Case of Mg 23 − Na 23 by Boso, A., Lenzi, S. M., Recchia, F., Bonnard, J., Zuker, A. P., Aydin, S., Bentley, M. A., Cederwall, B., Clement, E., de France, G., Di Nitto, A., Dijon, A., Doncel, M., Ghazi-Moradi, F., Gadea, A., Gottardo, A., Henry, T., Hüyük, T., Jaworski, G., John, P. R., Juhász, K., Kuti, I., Melon, B., Mengoni, D., Michelagnoli, C., Modamio, V., Napoli, D. R., Nyakó, B. M., Nyberg, J., Palacz, M., Timár, J., Valiente-Dobón, J. J.

“…Energy differences between analogue states in the T = 1/2 Mg-23-Na-23 mirror nuclei have been measured along the rotational yrast bands. This allows us to…”
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Lifetime measurements of excited states in 169,171,173Os: Persistence of anomalous B(E2) ratios in transitional rare earth nuclei in the presence of a decoupled i13/2 valence neutron by Zhang, W., Cederwall, B., Doncel, M., Aktas, Ö., Ertoprak, A., Liotta, R., Qi, C., Grahn, T., Nara Singh, B.S., Cullen, D.M., Hodge, D., Giles, M., Stolze, S., Badran, H., Braunroth, T., Calverley, T., Cox, D.M., Fang, Y.D., Greenlees, P.T., Hilton, J., Ideguchi, E., Julin, R., Juutinen, S., Kumar Raju, M., Li, H., Liu, H., Matta, S., Subramaniam, P., Modamio, V., Pakarinen, J., Papadakis, P., Partanen, J., Petrache, C.M., Rahkila, P., Ruotsalainen, P., Sandzelius, M., Sarén, J., Scholey, C., Sorri, J., Taylor, M.J., Uusitalo, J., Valiente-Dobón, J.J.

“…Lifetimes of low-lying excited states in the νi13/2+ bands of the neutron-deficient osmium isotopes 169,171,173Os have been measured for the first time using…”
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The Oslo Cyclotron Laboratory by Görgen, A., Guttormsen, M., Larsen, A. C., Siem, S., Adli, E., Edin, N. F. J., Gjersdal, H., Henriksen, G., Malinen, E., Modamio, V., Schoultz, B., Sobas, P. A., Theodossiou, T. A., Wikne, J. C.

“…Research at the Oslo Cyclotron Laboratory at the University of Oslo is focused on spectroscopy experiments for nuclear structure and nuclear astrophysics using…”
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Isospin dependence of electromagnetic transition strengths among an isobaric triplet by Boso, A., Milne, S.A., Bentley, M.A., Recchia, F., Lenzi, S.M., Rudolph, D., Labiche, M., Pereira-Lopez, X., Afara, S., Ameil, F., Arici, T., Aydin, S., Axiotis, M., Barrientos, D., Benzoni, G., Birkenbach, B., Boston, A.J., Boston, H.C., Boutachkov, P., Bracco, A., Bruce, A.M., Bruyneel, B., Cederwall, B., Clement, E., Cortes, M.L., Cullen, D.M., Désesquelles, P., Dombràdi, Zs, Domingo-Pardo, C., Eberth, J., Fahlander, C., Gelain, M., González, V., John, P.R., Gerl, J., Golubev, P., Górska, M., Gottardo, A., Grahn, T., Grassi, L., Habermann, T., Harkness-Brennan, L.J., Henry, T.W., Hess, H., Kojouharov, I., Korten, W., Lalović, N., Lettmann, M., Lizarazo, C., Louchart-Henning, C., Menegazzo, R., Mengoni, D., Merchan, E., Michelagnoli, C., Million, B., Modamio, V., Moeller, T., Napoli, D.R., Nyberg, J., Nara Singh, B.S., Pai, H., Pietralla, N., Pietri, S., Podolyak, Zs, Perez Vidal, R.M., Pullia, A., Ralet, D., Rainovski, G., Reese, M., Reiter, P., Salsac, M.D., Sanchis, E., Sarmiento, L.G., Schaffner, H., Scruton, L.M., Singh, P.P., Stahl, C., Uthayakumaar, S., Valiente-Dobón, J.J., Wieland, O.

“…Electric quadrupole matrix elements, Mp, for the Jπ=2+→0+, ΔT=0, T=1 transitions across the A=46 isobaric multiplet 46Cr-46V-46Ti have been measured at GSI…”
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Whole-body cellular mapping in mouse using standard IgG antibodies by Mai, Hongcheng, Luo, Jie, Hoeher, Luciano, Al-Maskari, Rami, Horvath, Izabela, Chen, Ying, Kofler, Florian, Piraud, Marie, Paetzold, Johannes C., Modamio, Jennifer, Todorov, Mihail, Elsner, Markus, Hellal, Farida, Ertürk, Ali

“…Whole-body imaging techniques play a vital role in exploring the interplay of physiological systems in maintaining health and driving disease. We introduce…”
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Metabolic and signalling network maps integration: application to cross-talk studies and omics data analysis in cancer by Sompairac, Nicolas, Modamio, Jennifer, Barillot, Emmanuel, Fleming, Ronan M T, Zinovyev, Andrei, Kuperstein, Inna

“…The interplay between metabolic processes and signalling pathways remains poorly understood. Global, detailed and comprehensive reconstructions of human…”
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The GALILEO γ-ray array at the Legnaro National Laboratories by Goasduff, A., Mengoni, D., Recchia, F., Valiente-Dobón, J.J., Menegazzo, R., Benzoni, G., Barrientos, D., Bellato, M., Bez, N., Biasotto, M., Blasi, N., Boiano, C., Boso, A., Bottoni, S., Bracco, A., Brambilla, S., Brugnara, D., Camera, F., Capra, S., Capsoni, A., Cocconi, P., Coelli, S., Cortés, M.L., Crespi, F.C.L., de Angelis, G., Egea, F.J., Fanin, C., Fantinel, S., Gadea, A., Gamba, E.R., Gambalonga, A., Gesmundo, C., Gosta, G., Gottardo, A., Gozzelino, A., Gregor, E.T., Gulmini, M., Ha, J., Hadyńska-Klȩk, K., Illana, A., Isocrate, R., Jaworski, G., John, P.R., Lenzi, S.M., Leoni, S., Lunardi, S., Magalini, M., Marchini, N., Million, B., Modamio, V., Nannini, A., Napoli, D.R., Pasqualato, G., Pellumaj, J., Pérez-Vidal, R.M., Pigliapoco, S., Polettini, M., Porzio, C., Pullia, A., Ramina, L., Rampazzo, G., Rampazzo, M., Rebeschini, M., Rezynkina, K., Rocchini, M., Romanato, M., Rosso, D., Saltarelli, A., Scarcioffolo, M., Siciliano, M., Testov, D.A., Tomasella, D., Tomasi, F., Toniolo, N., Ur, C.A., Ventura, S., Veronese, F., Viscione, E., Volpe, V., Wieland, O., Zanon, I., Ziliani, S., Zhang, G., Bazzacco, D.

“…GALILEO, a new 4π high-resolution γ-detection array, based on HPGe detectors, has been developed and installed at the Legnaro National Laboratories. The…”
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Creation and analysis of biochemical constraint-based models using the COBRA Toolbox v.3.0 by Heirendt, Laurent, Arreckx, Sylvain, Pfau, Thomas, Mendoza, Sebastián N., Richelle, Anne, Heinken, Almut, Haraldsdóttir, Hulda S., Wachowiak, Jacek, Keating, Sarah M., Vlasov, Vanja, Magnusdóttir, Stefania, Ng, Chiam Yu, Preciat, German, Žagare, Alise, Chan, Siu H. J., Aurich, Maike K., Clancy, Catherine M., Modamio, Jennifer, Sauls, John T., Noronha, Alberto, Bordbar, Aarash, Cousins, Benjamin, El Assal, Diana C., Valcarcel, Luis V., Apaolaza, Iñigo, Ghaderi, Susan, Ahookhosh, Masoud, Ben Guebila, Marouen, Kostromins, Andrejs, Sompairac, Nicolas, Le, Hoai M., Ma, Ding, Sun, Yuekai, Wang, Lin, Yurkovich, James T., Oliveira, Miguel A. P., Vuong, Phan T., El Assal, Lemmer P., Kuperstein, Inna, Zinovyev, Andrei, Hinton, H. Scott, Bryant, William A., Aragón Artacho, Francisco J., Planes, Francisco J., Stalidzans, Egils, Maass, Alejandro, Vempala, Santosh, Hucka, Michael, Saunders, Michael A., Maranas, Costas D., Lewis, Nathan E., Sauter, Thomas, Palsson, Bernhard Ø., Thiele, Ines, Fleming, Ronan M. T.

“…Constraint-based reconstruction and analysis (COBRA) provides a molecular mechanistic framework for integrative analysis of experimental molecular systems…”
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The Virtual Metabolic Human database: integrating human and gut microbiome metabolism with nutrition and disease by Noronha, Alberto, Modamio, Jennifer, Jarosz, Yohan, Guerard, Elisabeth, Sompairac, Nicolas, Preciat, German, Daníelsdóttir, Anna Dröfn, Krecke, Max, Merten, Diane, Haraldsdóttir, Hulda S, Heinken, Almut, Heirendt, Laurent, Magnúsdóttir, Stefanía, Ravcheev, Dmitry A, Sahoo, Swagatika, Gawron, Piotr, Friscioni, Lucia, Garcia, Beatriz, Prendergast, Mabel, Puente, Alberto, Rodrigues, Mariana, Roy, Akansha, Rouquaya, Mouss, Wiltgen, Luca, Žagare, Alise, John, Elisabeth, Krueger, Maren, Kuperstein, Inna, Zinovyev, Andrei, Schneider, Reinhard, Fleming, Ronan M T, Thiele, Ines

“…Abstract A multitude of factors contribute to complex diseases and can be measured with ‘omics’ methods. Databases facilitate data interpretation for…”
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