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28 results on '"Aleman, Alberto"'

1. Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases

Author

Estévez-Arias, Berta, Matalonga, Leslie, Yubero, Delia, Polavarapu, Kiran, Codina, Anna, Ortez, Carlos, Carrera-García, Laura, Expósito-Escudero, Jesica, Jou, Cristina, Meyer, Stefanie, Kilicarslan, Ozge Aksel, Aleman, Alberto, Thompson, Rachel, Luknárová, Rebeka, Esteve-Codina, Anna, Gut, Marta, Laurie, Steven, Demidov, German, Yépez, Vicente A., Beltran, Sergi, Gagneur, Julien, Topf, Ana, Lochmüller, Hanns, Nascimento, Andres, Hoenicka, Janet, Palau, Francesc, and Natera-de Benito, Daniel

Published
2024
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2. Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases

Author

Estévez-Arias, Berta, Matalonga, Leslie, Yubero, Delia, Polavarapu, Kiran, Codina, Anna, Ortez, Carlos, Carrera-García, Laura, Expósito-Escudero, Jesica, Jou, Cristina, Meyer, Stefanie, Kilicarslan, Ozge Aksel, Aleman, Alberto, Thompson, Rachel, Luknárová, Rebeka, Esteve-Codina, Anna, Gut, Marta, Laurie, Steven, Demidov, German, Yépez, Vicente A., Beltran, Sergi, Gagneur, Julien, Topf, Ana, Lochmüller, Hanns, Nascimento, Andres, Hoenicka, Janet, Palau, Francesc, and Natera-de Benito, Daniel

Published
2024
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3. Divergent lineages in a young species: The case of datilillo (Yucca valida), a broadly distributed plant from the Baja California Peninsula.

Author

Aleman, Alberto, Arteaga, Maria Clara, Gasca‐Pineda, Jaime, and Bello‐Bedoy, Rafael

Subjects
*GENETIC drift, *NATURAL selection, *GENETIC models, *GENETIC variation, *PHYLOGEOGRAPHY, REPRODUCTIVE isolation
Abstract

Premise: Globally, barriers triggered by climatic changes have caused habitat fragmentation and population allopatric divergence. Across North America, oscillations during the Quaternary have played important roles in the distribution of wildlife. Notably, diverse plant species from the Baja California Peninsula in western North America, isolated during the Pleistocene glacial–interglacial cycles, exhibit strong genetic structure and highly concordant divergent lineages across their ranges. A representative plant genus of the peninsula is Yucca, with Y. valida having the widest range. Although a dominant species, it has an extensive distribution discontinuity between 26° N and 27° N, suggesting restricted gene flow. Moreover, historical distribution models indicate the absence of an area with suitable conditions for the species during the Last Interglacial, making it an interesting model for studying genetic divergence. Methods: We assembled 4411 SNPs from 147 plants of Y. valida throughout its range to examine its phylogeography to identify the number of genetic lineages, quantify their genetic differentiation, reconstruct their demographic history and estimate the age of the species. Results: Three allopatric lineages were identified based on the SNPs. Our analyses support that genetic drift is the driver of genetic differentiation among these lineages. We estimated an age of less than 1 million years for the common ancestor of Y. valida and its sister species. Conclusions: Habitat fragmentation caused by climatic changes, low dispersal, and an extensive geographical range gap acted as cumulative mechanisms leading to allopatric divergence in Y. valida. [ABSTRACT FROM AUTHOR]

Published
2024
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4. Cerebral venous thrombosis in Argentina: clinical presentation, predisposing factors, outcomes and literature review

Author

Alet, Matías, Ciardi, Celina, Alemán, Alberto, Bandeo, Lucrecia, Bonardo, Pablo, Cea, Clarisa, Cirio, Juan, Cossio, Jerónimo, Cuculic, María, Esnaola, María Martha, García-Pérez, Fernando, Giner, Federico, Gómez-Schneider, Maia, Isaac, Cristian, Lepera, Sandra, Martínez, Carlos, Martínez-Lorenzín, Román, Montes, Mariana, Orzuza, Gabriela, Persi, Gabriel, Povedano, Guillermo, Pujol-Lereis, Virginia, Quiroga-Narváez, Julieta, Romano, Marina, Sabio, Rodrigo, Viglione, Juan, Zurrú, María Cristina, and Saposnik, Gustavo

Published
2020
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5. The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy

Author

Baranello, Giovanni, primary, Roy, Susana Quijano, additional, Servais, Laurent, additional, Munell, Francina, additional, Molinero, Mireia Alvarez, additional, Natera de Benito, Daniel, additional, Nascimento, Andres, additional, Gomez-Andres, David, additional, Comellas, Laura Costa, additional, Exposito, Jessica, additional, Tizzano, Eduardo F., additional, Cuppen, Inge, additional, Van der Pol, Ludo, additional, Aleman, Alberto, additional, Lochmuller, Hanns, additional, McMillan, Hugh, additional, Kirschner, Janbernd, additional, Müller, Cornelia, additional, Oskoui, Maryam, additional, Masson, Riccardo, additional, Bruno, Claudio, additional, Gonorazky, Hernan D., additional, Tesi-Rocha, Carolina, additional, Yaworski, Amanda Marie, additional, Zanoteli, Edmar, additional, Mendonca, Rodrigo, additional, D'Amico, Adele, additional, Cumbo, Francesca, additional, Tosi, Michele, additional, Pane, Marika, additional, Mercuri, Eugenio, additional, Nardes, Flavia, additional, Prufer, Alexandra, additional, Arci, Brenda Klemm, additional, Pascual, Samuel Ignacio, additional, Fattal-Valevski, Aviva, additional, De Waele, Liesbeth, additional, Deconinck, Nicolas, additional, Farrar, Michelle, additional, Haberlova, Jana, additional, Gomez-Garcia de la Banda, Marta, additional, Childs, Anne-Marie, additional, Martos, Cristina, additional, Wraige, Elizabeth, additional, Gowda, Vasantha, additional, Illingworth, Marjorie, additional, Ong, Min, additional, Majundar, Anirban, additional, Hughes, Imelda, additional, Torne, Krupa, additional, Willis, Tracey, additional, Ramdas, Sithara, additional, De Goede, Christian, additional, Erbas, Yasemin, additional, Brusa, Chiara, additional, Scoto, Mariacristina, additional, and Muntoni, Francesco, additional

Published
2023
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8. Development of genomic resources for cattails (Typha), a globally important macrophyte genus.

Author

Aleman, Alberto, Dorken, Marcel E., Shafer, Aaron B. A., Patel, Tulsi, Volkova, Polina A., and Freeland, Joanna R.

Subjects
*TYPHA, *FRESHWATER plants, *HYBRID zones, *SINGLE nucleotide polymorphisms, *MACROPHYTES, *GENE libraries
Abstract

A critical knowledge gap in freshwater plant research is the lack of genetic tools necessary to answer fundamental questions about their demographic histories, adaptation and phylogenetic relationships. One example of this is Typha, a global genus of freshwater plants foundational to wetlands that also is becoming an increasingly problematic biological invader in numerous regions worldwide; although important insights have been discovered for this genus, existing markers are insufficient to answer fundamental questions about their demographic histories, adaptation and phylogenetic relationships; to identify introduced and hybrid lineages; and to examine patterns of hybridisation and introgression.We optimised a library preparation and data processing protocol to develop genome–wide nuclear and plastid resources for studying the evolutionary history, genetic structure and diversity, hybridisation, local adaptation, invasiveness, and geographical expansion dynamics of Typha.We sequenced 140 Typha samples and identified ~120 K nuclear single nucleotide polymorphisms (SNPs) that differentiate T. angustifolia, T. domingensis and T. latifolia, and retrieved their plastome sequences. We observed genetic introgression among the three species.Following a fast, straightforward and cost‐efficient genomic library preparation protocol, we produced a suite of genome‐wide resources to facilitate investigations into the taxonomy and population genetics of Typha and to advance the genomic understanding of wetland plants.The protocol described, the updated chromosome‐level genome assembly of T. latifolia, the catalogue of species‐specific SNPs, and the chloroplast sequences produced in this study comprise permanent resources that can be applied to study the genetic composition of multiple populations and hybrid zones, and will be incorporated into future studies of Typha, an ecologically important and globally invasive macrophyte. [ABSTRACT FROM AUTHOR]

Published
2024
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9. Bases racionales de prescripción para médicos neurólogos

Author

Orellana, Lucas, Aleman, Alberto, Barboza, Andrés, Bernater, Ricardo, Demey, Ignacio, Deri, Norma, Fumagalli, Ana Isabel, Kriebaum, Martín, Martinez, Alejandra, Martinez, Oscar, Papayannis, Cristina, Parada Marcilla, Marcela, Rojas, Galeno, Romano, Lucas Martin, Romano, Marina, Saidon, Patricia, and Steinberg, Judith

Published
2016
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10. Bi-allelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase (PCK2) cause peripheral neuropathy.

Author

Sondheimer, Neal, primary, Aleman, Alberto, additional, Cameron, Jessie, additional, Gonorazky, Hernan, additional, Sabha, Nesrin, additional, Oliveira, Paula, additional, Amburgey, Kimberly, additional, Wahedi, Azizia, additional, Wang, Dahai, additional, Shy, Michael, additional, and Dowling, James J., additional

Published
2023
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23. The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy

Author

Roy, Susana Quijano, Servais, Laurent, Munell, Francina, Molinero, Mireia Alvarez, Natera de Benito, Daniel, Nascimento, Andres, Gomez-Andres, David, Comellas, Laura Costa, Exposito, Jessica, Tizzano, Eduardo F., Cuppen, Inge, Van der Pol, Ludo, Aleman, Alberto, Lochmuller, Hanns, McMillan, Hugh, Kirschner, Janbernd, Müller, Cornelia, Oskoui, Maryam, Masson, Riccardo, Bruno, Claudio, Gonorazky, Hernan D., Tesi-Rocha, Carolina, Yaworski, Amanda Marie, Zanoteli, Edmar, Mendonca, Rodrigo, D'Amico, Adele, Cumbo, Francesca, Tosi, Michele, Pane, Marika, Mercuri, Eugenio, Nardes, Flavia, Prufer, Alexandra, Arci, Brenda Klemm, Pascual, Samuel Ignacio, Fattal-Valevski, Aviva, De Waele, Liesbeth, Deconinck, Nicolas, Farrar, Michelle, Haberlova, Jana, Gomez-Garcia de la Banda, Marta, Childs, Anne-Marie, Martos, Cristina, Wraige, Elizabeth, Gowda, Vasantha, Illingworth, Marjorie, Ong, Min, Majundar, Anirban, Hughes, Imelda, Torne, Krupa, Willis, Tracey, Ramdas, Sithara, De Goede, Christian, Erbas, Yasemin, Brusa, Chiara, Scoto, Mariacristina, Muntoni, Francesco, and Baranello, Giovanni

Published
2024
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24. Rapidly progressive dementia in Argentina: A multicentric study

Author

Isa, Santiago, primary, Calandri, Ismael Luis, additional, Demey, Ignacio, additional, Dorman, Guido, additional, Couto, Blas, additional, Vigo, Gabriela, additional, Aleman, Alberto, additional, Mellinger, Surai, additional, Aldecoa, Mayra, additional, Genovese, Osvaldo, additional, Sanchez, Maria Pilar, additional, O'Neill, Santiago, additional, Vazquez, Guido, additional, Appiani, Franco, additional, Ollari, Juan, additional, Acosta, Julian, additional, Allegri, Ricardo F, additional, Gatto, Emilia, additional, and Rojas, Galeno, additional

Published
2020
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25. A simple method to genetically differentiate invasive F1Typha hybrids (T. × glauca) and advanced-generation/backcrossed hybrids from parent species (T. Latifolia and T. angustifolia) in eastern Canada and northeastern USA.

Author

Chambers, Avery, Chambers, Braidy, Bhargava, Deven, Aleman, Alberto, Dorken, Marcel, and Freeland, Joanna

Abstract

A widespread Typha (cattail) hybrid zone in southeastern Canada and northeastern USA comprises T. latifolia, T. angustifolia, and their hybrid T. × glauca. In this region the hybrid is considered invasive because of its detrimental impacts on wetlands and biodiversity. Researchers and managers are increasingly interested in tracking and controlling the spread of the invasive hybrid, but this can be hampered by challenges in differentiating taxa: while the parent species and F1 hybrids can often be identified from morphological characteristics, advanced-generation and backcrossed hybrids can be common, and these have obscured morphological distinctions among taxa. Here we present five species-specific genetic markers that differentiate T. latifolia, T. angustifolia, F 1 hybrids, and advanced-generation/backcrossed hybrids. Unlike the pre-existing species-specific microsatellite markers, these markers require only PCR or PCR followed by a restriction enzyme digest, and can be visualized on an agarose gel. As a result, they require less specialized equipment than existing species-specific markers, and should therefore be useful for a larger group of practitioners. Future use of these markers could include monitoring range expansions, assessing the outcomes of restoration programs, and avoiding the unnecessary elimination of native Typha. [ABSTRACT FROM AUTHOR]

Published
2024
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28. Brain malformations and seizures by impaired chaperonin function of TRiC.

Author

Kraft F, Rodriguez-Aliaga P, Yuan W, Franken L, Zajt K, Hasan D, Lee TT, Flex E, Hentschel A, Innes AM, Zheng B, Julia Suh DS, Knopp C, Lausberg E, Krause J, Zhang X, Trapane P, Carroll R, McClatchey M, Fry AE, Wang L, Giesselmann S, Hoang H, Baldridge D, Silverman GA, Radio FC, Bertini E, Ciolfi A, Blood KA, de Sainte Agathe JM, Charles P, Bergant G, Čuturilo G, Peterlin B, Diderich K, Streff H, Robak L, Oegema R, van Binsbergen E, Herriges J, Saunders CJ, Maier A, Wolking S, Weber Y, Lochmüller H, Meyer S, Aleman A, Polavarapu K, Nicolas G, Goldenberg A, Guyant L, Pope K, Hehmeyer KN, Monaghan KG, Quade A, Smol T, Caumes R, Duerinckx S, Depondt C, Van Paesschen W, Rieubland C, Poloni C, Guipponi M, Arcioni S, Meuwissen M, Jansen AC, Rosenblum J, Haack TB, Bertrand M, Gerstner L, Magg J, Riess O, Schulz JB, Wagner N, Wiesmann M, Weis J, Eggermann T, Begemann M, Roos A, Häusler M, Schedl T, Tartaglia M, Bremer J, Pak SC, Frydman J, Elbracht M, and Kurth I

Subjects
Humans, Male, Fibroblasts metabolism, Intellectual Disability genetics, Intellectual Disability metabolism, Protein Subunits metabolism, Protein Subunits genetics, Proteome metabolism, Transcriptome, Magnetic Resonance Imaging, Caenorhabditis elegans, Adult, Brain abnormalities, Brain diagnostic imaging, Brain metabolism, Chaperonin Containing TCP-1 chemistry, Chaperonin Containing TCP-1 genetics, Chaperonin Containing TCP-1 metabolism, Protein Folding, Seizures diagnostic imaging, Seizures genetics, Seizures metabolism
Abstract

Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the core protein-folding machinery TRiC/CCT in individuals with brain malformations, intellectual disability, and seizures. The chaperonin TRiC is an obligate hetero-oligomer, and we identify variants in seven of its eight subunits, all of which impair function or assembly through different mechanisms. Transcriptome and proteome analyses of patient-derived fibroblasts demonstrate the various consequences of TRiC impairment. The results reveal an unexpected and potentially widespread role for protein folding in the development of the central nervous system and define a disease spectrum of "TRiCopathies."

Published
2024
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