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333 results on '"GOROKHOVA, Svetlana"'

1. Collective order boundedness of sets of operators between ordered vector spaces

Author

Emelyanov, Eduard, Erkursun-Ozcan, Nazife, and Gorokhova, Svetlana

Subjects
Mathematics - Functional Analysis, 46A40, 46B42, 47B60, 47D03
Abstract

It is proved that: each collectively order continuous set of operators from an Archimedean ordered vector space to an ordered vector space is collectively order bounded; each collectively order to norm bounded set of operators from an ordered Banach space with a closed generating cone to a normed space is norm bounded; collectively r-continuous sets agree with collectively order bounded ones when the space in the range has a generating cone. Several applications to operator semigroups are given.

Published
2024

3. On aL(M)wc and oL(M)wc operators between Banach lattices

Author

Alpay, Safak and Gorokhova, Svetlana

Subjects
Mathematics - Functional Analysis, 46B25, 46B42, 46B50, 47B60
Abstract

We study almost L(M) weakly compact and order L(M) weakly compact operators in Banach spaces. Several further topics related to these operators are investigated., Comment: 18 pages

Published
2024

4. On compact (limited) operators between Hilbert and Banach spaces

Author

Gorokhova, Svetlana

Subjects
Mathematics - Functional Analysis, 47B01, 47B02
Abstract

We give orthonormal characterizations of collectively compact (limited) sets of linear operators from a Hilbert space to a Banach space., Comment: 8 pages

Published
2024

5. On limited and almost limited operators between Banach lattices

Author

Alpay, Safak and Gorokhova, Svetlana

Subjects
Mathematics - Functional Analysis
Abstract

We study (almost) limited operators in Banach lattices and their relations to L-weakly compact, semi-compact, and Dunford-Pettis operators. Several further related topics are investigated.

Published
2024

6. d-Operators in Banach Lattices

Author

Emelyanov, Eduard, Erkurşun-Özcan, Nazife, and Gorokhova, Svetlana

Subjects
Mathematics - Functional Analysis, 46B42, 46B50, 47B07
Abstract

We study operators carrying disjoint bounded subsets of a Banach lattice into compact, weakly compact, and limited subsets of a Banach space. Surprisingly, these operators behave differently with classical compact, weakly compact, and limited operators. We introduce and investigate d-Andrews operators which carry disjoint bounded sets onto Dunford--Pettis sets., Comment: 14 pages

Published
2024

7. Phenotype variability and natural history of X-linked myopathy with excessive autophagy

Author

Fernández-Eulate, Gorka, Alfieri, Girolamo, Spinazzi, Marco, Ackermann-Bonan, Isabelle, Duval, Fanny, Solé, Guilhem, Caillon, Florence, Mercier, Sandra, Pereon, Yann, Magot, Armelle, Pegat, Antoine, Salort-Campana, Emmanuelle, Chabrol, Brigitte, Gorokhova, Svetlana, Krahn, Martin, Biancalana, Valerie, Evangelista, Teresinha, Behin, Anthony, Metay, Corinne, and Stojkovic, Tanya

Published
2024
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10. Limitedly L-weakly compact operators

Author

Alpay, Safak, Gorokhova, Svetlana, and Emelyanov, Eduard

Subjects
Mathematics - Functional Analysis, 46A40, 46B42, 46B50, 47B65
Abstract

We introduce new class of limitedly L-weakly compact operators from a Banach space to a Banach lattice. This class is a proper subclass of the Bourgain-Diestel operators and it contains properly the class of L-weakly compact operators. We give its efficient characterization in term of sequences, investigate the domination problem, and study the completeness of this class of operators.

Published
2023

13. Enveloping norms on the spaces of regularly P-operators in Banach lattices

Author

Alpay, Safak, Emelyanov, Eduard, and Gorokhova, Svetlana

Subjects
Mathematics - Functional Analysis, 46B25, 46B42, 46B50, 47B60
Abstract

We introduce and study the enveloping norms of regularly P-operators between Banach lattices E and F, where P is a subspace of the space L(E,F) of continuous operators from E to F. We prove that if P is closed in L(E,F) in the operator norm then the regularly P-operators forms a Banach space under the enveloping norm. Conditions providing that regularly P-operators forms a Banach lattice under the enveloping norm are given., Comment: arXiv admin note: substantial text overlap with arXiv:2208.02303

Published
2022

14. Operators Affiliated to Banach Lattice Properties and the Enveloping Norms

Author

Emelyanov, Eduard and Gorokhova, Svetlana

Subjects
Mathematics - Functional Analysis, 46B25, 46B42, 46B50, 47B60
Abstract

Several recent papers were devoted to various modifications of limited, Grothendieck, and Dunford--Pettis operators, etc., through involving the Banach lattice structure. In the present paper, it is shown that many of these operators appear as operators affiliated to well known properties of Banach lattices, like the disjoint (dual) Schur property, the disjoint Grothendieck property, the property (d), and the sequential w*-continuity of the lattice operations. It is proved that the spaces consisting of regularly versions of the above operators are all Banach spaces. The domination problem for such operators is investigated., Comment: arXiv admin note: text overlap with arXiv:2208.02303

Published
2022

15. Regularly limited, Grothendieck, and Dunford--Pettis operators

Author

Alpay, Safak, Emelyanov, Eduard, and Gorokhova, Svetlana

Subjects
Mathematics - Functional Analysis, 46B25, 46B42, 46B50, 47B60
Abstract

We introduce and study the enveloping norms of regularly P-operators, where P is an "almost" version of limited, Grothendieck, and of Dunford--Pettis operators in Banach lattices. Several further topics related to these operators are also discussed.

Published
2022

16. Generalizations of L- and M-weakly compact operators

Author

Alpay, Safak, Emelyanov, Eduard, and Gorokhova, Svetlana

Subjects
Mathematics - Functional Analysis, 46A40, 46B42, 46B50, 47B65
Abstract

L- and M-weakly compact operators were introduced by Meyer-Nieberg in the beginning of seventies in attempts of a diversification of the concept of weakly compact operators via imposing Banach lattice structure on the range or on the domain of operators. We investigate regularity and algebraic properties of various generalizations of L- and M-weakly compact operators from a unified point of view via using regularly P-operators.

Published
2022

17. Multiplicative order compact operators between vector lattices and $l$-algebras

Author

Aydın, Abdullah and Gorokhova, Svetlana

Subjects
Mathematics - Functional Analysis, 46A40, 46B42, 46J40, 47B65
Abstract

In the present paper, we introduce and investigate the multiplicative order compact operators from vector lattices to $l$-algebras. A linear operator $T$ from a vector lattice $X$ to an $l$-algebra $E$ is said to be $\mathbb{omo}$-compact if every order bounded net $x_\alpha$ in $X$ possesses a subnet $x_{\alpha_\beta}$ such that $Tx_{\alpha_\beta}\moc y$ for some $y\in E$. We also introduce and study $\mathbb{omo}$-$M$- and $\mathbb{omo}$-$L$-weakly compact operators from vector lattices to $l$-algebras., Comment: 16 pages

Published
2022

18. Digital Technologies and Artificial Intelligence Technologies in Education

Author

Barakina, Elena Y., Popova, Anna V., Gorokhova, Svetlana S., and Voskovskaya, Angela S.

Abstract

The current stage of society development is very closely related to the digitalization of all spheres of public life without exception. Education in this regard should become the starting point or the basis for the competent and conscious application of Artificial Intelligence (AI) technologies, neural networks, and other cyber-physical systems based on AI, as well as robots and robotics objects. Digitalization in education is promoted by economic, social and structural prerequisites. The introduction of these technologies provides new opportunities to improve the educational process, but at the same time the application of these technologies faces some risks, the identification of negative consequences of which is delayed. The aim of the article is to provide the ways for the development of legal regulation of AI, robots and robotics objects in education. The study considers the experience of different countries in the implementation of AI technologies in the educational process, provides the opinions of international UNESCO experts, Russian and foreign researchers. According to the results of the research, three main directions of the relationship between the development of AI technologies and education are identified: 1) training with the help of AI technologies; 2) scientific and practical research of AI and its technologies; 3) training qualified specialists to work with AI in the process of obtaining secondary and higher education. The factors that hinder the implementation of these technologies, as well as the risks of negative consequences of their use in the form of violations of the students' rights are revealed. Findings and proposals for each of the identified areas are formulated.

Published
2021

20. Multiplicative order continuous operators on Riesz algebras

Author

Aydın, Abdullah, Emelyanov, Eduard, and Gorokhova, Svetlana

Subjects
Mathematics - Functional Analysis, 46A40, 46B42, 46J40, 47B65
Abstract

In this paper, we investigate operators on Riesz algebras, which are continuous with respect to multiplicative modifications of order convergence and relatively uniform convergence. We also introduce and study mo-Lebesgue, mo-$KB$, and mo-Levi operators.

Published
2022

21. Contradiction between Law and Sub-Rules with Psychological Consideration

Author

Shklyar, Tatiana L., Popova, Anna V., and Gorokhova, Svetlana S.

Abstract

In this article authors suggest considering features of hybrid reality, both in psychology and in law. The authors investigate the opportunities and dangers of the virtual world. They reveal the main psychological aspects that provoke the person to plunge into Internet space. Also in the article, the authors show the main tendencies and the directions of transformation of the modern legislation connected with the need to provide a condition of information security for the individual, societies, and the states in general. Difficulties of implementation of legal regulation and administrative control in digital space are analyzed, and the appeal of the virtual world to inhabitants, including, and in connection with its weak accountability are shown.

Published
2020

22. Free uniformly complete vector lattices

Author

Emelyanov, Eduard and Gorokhova, Svetlana

Subjects
Mathematics - Functional Analysis, 46A40, 46B42
Abstract

We define a free uniformly complete vector lattice over a set of generators and give its concrete representation as a space of continuous positively homogeneous functions.

Published
2021

23. The $o\tau$-continuous, Lebesgue, KB, and Levi operators between vector lattices and topological vector spaces

Author

Alpay, Safak, Emelyanov, Eduard, and Gorokhova, Svetlana

Subjects
Mathematics - Functional Analysis, 2020: 46A40, 46B42, 47L05
Abstract

We investigate the $o\tau$-continuous/bounded/compact and Lebesgue operators from vector lattices to topological vector spaces; the KB operators between locally solid lattices and topological vector spaces; and the Levi operators from locally solid lattices to vector lattices. The main idea of operator versions of notions related to vector lattices lies in redistributing topological and order properties of a topological vector lattice between the domain and range of an operator under investigation. Domination properties for these classes of operators are studied., Comment: 34 pages

Published
2021

24. b-Property of sublattices in vector lattices

Author

Alpay, Safak and Gorokhova, Svetlana

Subjects
Mathematics - Functional Analysis, 46A40, G.0
Abstract

We study $b$-property of a sublattice (or an order ideal) $F$ of a vector lattice $E$. In particular, $b$-property of $E$ in $E^\delta$, the Dedekind completion of $E$, $b$-property of $E$ in $E^u$, the universal completion of $E$, and $b$-property of $E$ in $\hat{E}(\hat{\tau})$, the completion of $E$.

Published
2021

25. Bibounded uo-convergence and b-property in vector lattices

Author

Alpay, Safak, Emelyanov, Eduard, and Gorokhova, Svetlana

Subjects
Mathematics - Functional Analysis, 46A40, 46B42
Abstract

We define bidual bounded $uo$-convergence in vector lattices and investigate relations between this convergence and $b$-property. We prove that for a regular Riesz dual system $\langle X,X^{\sim}\rangle$, $X$ has $b$-property if and only if the order convergence in $X$ agrees with the order convergence in $X^{\sim\sim}$.

Published
2020

26. An AI-powered blood test to detect cancer using nanoDSF

Author

Tsvetkov, Philipp O., Eyraud, Rémi, Ayache, Stéphane, Bougaev, Anton A., Malesinski, Soazig, Benazha, Hamed, Gorokhova, Svetlana, Buffat, Christophe, Dehais, Caroline, Sanson, Marc, Bielle, Franck, Figarella-Branger, Dominique, Chinot, Olivier, Tabouret, Emeline, and Devred, François

Subjects
Quantitative Biology - Quantitative Methods, Computer Science - Machine Learning, Quantitative Biology - Tissues and Organs
Abstract

We describe a novel cancer diagnostic method based on plasma denaturation profiles obtained by a non-conventional use of Differential Scanning Fluorimetry. We show that 84 glioma patients and 63 healthy controls can be automatically classified using denaturation profiles with the help of machine learning algorithms with 92% accuracy. Proposed high throughput workflow can be applied to any type of cancer and could become a powerful pan-cancer diagnostic and monitoring tool from a simple blood test.

Published
2020

27. Full Lattice Convergence on Riesz Spaces

Author

Aydın, Abdullah, Emelyanov, Eduard, and Gorokhova, Svetlana

Subjects
Mathematics - Functional Analysis, 46A40, 46B42, 46J40, 46H99
Abstract

The full lattice convergence on a locally solid Riesz space is an abstraction of the topological, order, and relatively uniform convergences. We investigate four modifications of a full convergence $\mathbb{c}$ on a Riesz space. The first one produces a sequential convergence $\mathbb{sc}$. The second makes an absolute $\mathbb{c}$-convergence and generalizes the absolute weak convergence. The third modification makes an unbounded $\mathbb{c}$-convergence and generalizes various unbounded convergences recently studied in the literature. The last one is applicable whenever $\mathbb{c}$ is a full convergence on a commutative $l$-algebra and produces the multiplicative modification $\mathbb{mc}$ of $\mathbb{c}$. We study general properties of full lattice convergence with emphasis on universally complete Riesz spaces and on Archimedean $f$-algebras. The technique and results in this paper unify and extend those which were developed and obtained in recent literature on unbounded convergences.

Published
2020

29. Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.

Author

Mohan, Shruthi, McNulty, Shannon, Thaxton, Courtney, Elnagheeb, Marwa, Owens, Emma, Flowers, May, Nunnery, Teagan, Self, Autumn, Palus, Brooke, Gorokhova, Svetlana, Kennedy, April, Niu, Zhiyv, Johari, Mridul, Maiga, Alassane Baneye, Macalalad, Kelly, Clause, Amanda R., Beckmann, Jacques S., Bronicki, Lucas, Cooper, Sandra T., and Ganesh, Vijay S.

Subjects
MUSCULAR dystrophy, CREATINE kinase, PHENOTYPES, LEGAL evidence, GENETICISTS
Abstract

Objective: Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age with progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy. Advances in massively parallel sequencing have led to a surge in genes linked to LGMD. Methods: The ClinGen Muscular Dystrophies and Myopathies gene curation expert panel (MDM GCEP, formerly Limb Girdle Muscular Dystrophy GCEP) convened to evaluate the strength of evidence supporting gene–disease relationships (GDR) using the ClinGen gene–disease clinical validity framework to evaluate 31 genes implicated in LGMD. Results: The GDR was exclusively LGMD for 17 genes, whereas an additional 14 genes were related to a broader phenotype encompassing congenital weakness. Four genes (CAPN3, COL6A1, COL6A2, and COL6A3) were split into two separate disease entities, based on each displaying both dominant and recessive inheritance patterns, resulting in curation of 35 GDRs. Of these, 30 (86%) were classified as definitive, 4 (11%) as moderate, and 1 (3%) as limited. Two genes, POMGNT1 and DAG1, though definitively related to myopathy, currently have insufficient evidence to support a relationship specifically with LGMD. Interpretation: The expert‐reviewed assertions on the clinical validity of genes implicated in LGMDs form an invaluable resource for clinicians and molecular geneticists. We encourage the global neuromuscular community to publish case‐level data that help clarify disputed or novel LGMD associations. [ABSTRACT FROM AUTHOR]

Published
2024
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32. Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease

Author

Donkervoort, Sandra, primary, van de Locht, Martijn, additional, Ronchi, Dario, additional, Reunert, Janine, additional, McLean, Catriona A., additional, Zaki, Maha, additional, Orbach, Rotem, additional, de Winter, Josine M., additional, Conijn, Stefan, additional, Hoomoedt, Daan, additional, Neto, Osorio Lopes Abath, additional, Magri, Francesca, additional, Viaene, Angela N., additional, Foley, A. Reghan, additional, Gorokhova, Svetlana, additional, Bolduc, Véronique, additional, Hu, Ying, additional, Acquaye, Nicole, additional, Napoli, Laura, additional, Park, Julien H., additional, Immadisetty, Kalyan, additional, Miles, Lee B., additional, Essawi, Mona, additional, McModie, Salar, additional, Ferreira, Leonardo F., additional, Zanotti, Simona, additional, Neuhaus, Sarah B., additional, Medne, Livija, additional, ElBagoury, Nagham, additional, Johnson, Kory R., additional, Zhang, Yong, additional, Laing, Nigel G., additional, Davis, Mark R., additional, Bryson-Richardson, Robert J., additional, Hwee, Darren T., additional, Hartman, James J., additional, Malik, Fady I., additional, Kekenes-Huskey, Peter M., additional, Comi, Giacomo Pietro, additional, Sharaf-Eldin, Wessam, additional, Marquardt, Thorsten, additional, Ravenscroft, Gianina, additional, Bönnemann, Carsten G., additional, and Ottenheijm, Coen A. C., additional

Published
2024
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33. Dystrophies musculaires des ceintures associées aux mutations de TRIM32 : cohorte française et revue de la littérature

Author

Guérémy, Alexandre, primary, Salort-Campana, Emmanuelle, additional, Fortanier, Etienne, additional, Magot, Armelle, additional, Bouhour, Françoise, additional, Solé, Guilhem, additional, Noury, Jean-Baptiste, additional, Behin, Anthony, additional, France, Leturcq, additional, Stojkovic, Tanya, additional, du Closel, Luce Barbat, additional, Sacconi, Sabrina, additional, Metay, Corinne, additional, Gorokhova, Svetlana, additional, Attarian, Shahram, additional, Nadaj-pakleza, Aleksandra, additional, Cerino, Mathieu, additional, Eymard, Bruno, additional, and Juliette, Nectoux, additional

Published
2024
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34. Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation

Author

Silverstein, Sarah, primary, Orbach, Rotem, additional, Syeda, Safoora, additional, Reghan Foley, A, additional, Gorokhova, Svetlana, additional, Meilleur, Katherine G., additional, Leach, Meganne E., additional, Uapinyoying, Prech, additional, Chao, Katherine R, additional, Donkervoort, Sandra, additional, and Bönnemann, Carsten G., additional

Published
2024
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36. Legal Regulation of the Development of Breakthrough Technologies in Russia

Author

Gorokhova, Svetlana S., Popova, Anna V., Shupletsova, Yulia I., Putilo, Natalia V., Kacprzyk, Janusz, Series Editor, Gomide, Fernando, Advisory Editor, Kaynak, Okyay, Advisory Editor, Liu, Derong, Advisory Editor, Pedrycz, Witold, Advisory Editor, Polycarpou, Marios M., Advisory Editor, Rudas, Imre J., Advisory Editor, Wang, Jun, Advisory Editor, Popkova, Elena G., editor, and Sergi, Bruno S., editor

Published
2020
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42. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Author

Genetica, Genetica Sectie Research, Cancer, Child Health, Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, Hakonarson, Hakon, Genetica, Genetica Sectie Research, Cancer, Child Health, Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, and Hakonarson, Hakon

Published
2024

43. System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution

Author

Barcelona Supercomputing Center, Ozisik, Ozan, Gorokhova, Svetlana, Cerino, Mathieu, Bartoli, Marc, Baudot, Anaïs, Barcelona Supercomputing Center, Ozisik, Ozan, Gorokhova, Svetlana, Cerino, Mathieu, Bartoli, Marc, and Baudot, Anaïs

Abstract

Muscular dystrophies (MDs) are inherited genetic diseases causing weakness and degeneration of muscles. The distribution of muscle weakness differs between MDs, involving distal muscles or proximal muscles. While the mutations in most of the MD-associated genes lead to either distal or proximal onset, there are also genes whose mutations can cause both types of onsets. We hypothesized that the genes associated with different MD onsets code proteins with distinct cellular functions. To investigate this, we collected the MD-associated genes and assigned them to three onset groups: genes mutated only in distal onset dystrophies, genes mutated only in proximal onset dystrophies, and genes mutated in both types of onsets. We then systematically evaluated the cellular functions of these gene sets with computational strategies based on functional enrichment analysis and biological network analysis. Our analyses demonstrate that genes mutated in either distal or proximal onset MDs code proteins linked with two distinct sets of cellular processes. Interestingly, these two sets of cellular processes are relevant for the genes that are associated with both onsets. Moreover, the genes associated with both onsets display high centrality and connectivity in the network of muscular dystrophy genes. Our findings support the hypothesis that the proteins associated with distal or proximal onsets have distinct functional characteristics, whereas the proteins associated with both onsets are multifunctional., This work is supported by the funding from the European Union’s Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP N° 825575., Peer Reviewed, Postprint (published version)

Published
2024

44. Inferring disease course from differential exon usage in the wide titinopathy spectrum

Author

Di Feo, Maria Francesca, Oghabian, Ali, Nippala, Ella, Gautel, Mathias, Jungbluth, Heinz, Forzano, Francesca, Malfatti, Edoardo, Castiglioni, Claudia, Krey, Ilona, Gomez Andres, David, Brady, Angela F., Iascone, Maria, Cereda, Anna, Pezzani, Lidia, Natera De Benito, Daniel, Nascimiento Osorio, Andres, Estévez Arias, Berta, Kurbatov, Sergei A., Attie-Bitach, Tania, Nampoothiri, Sheela, Ryan, Erin, Morrow, Michelle, Gorokhova, Svetlana, Chabrol, Brigitte, Sinisalo, Juha, Tolppanen, Heli, Tolva, Johanna, Munell, Francina, Camacho Soriano, Jessica, Sanchez Duran, Maria Angeles, Johari, Mridul, Tajsharghi, Homa, Hackman, Peter, Udd, Bjarne, Savarese, Marco, Di Feo, Maria Francesca, Oghabian, Ali, Nippala, Ella, Gautel, Mathias, Jungbluth, Heinz, Forzano, Francesca, Malfatti, Edoardo, Castiglioni, Claudia, Krey, Ilona, Gomez Andres, David, Brady, Angela F., Iascone, Maria, Cereda, Anna, Pezzani, Lidia, Natera De Benito, Daniel, Nascimiento Osorio, Andres, Estévez Arias, Berta, Kurbatov, Sergei A., Attie-Bitach, Tania, Nampoothiri, Sheela, Ryan, Erin, Morrow, Michelle, Gorokhova, Svetlana, Chabrol, Brigitte, Sinisalo, Juha, Tolppanen, Heli, Tolva, Johanna, Munell, Francina, Camacho Soriano, Jessica, Sanchez Duran, Maria Angeles, Johari, Mridul, Tajsharghi, Homa, Hackman, Peter, Udd, Bjarne, and Savarese, Marco

Abstract

Objective: Biallelic titin truncating variants (TTNtv) have been associated with a wide phenotypic spectrum, ranging from complex prenatal muscle diseases with dysmorphic features to adult-onset limb-girdle muscular dystrophy, with or without cardiac involvement. Given the size and complexity of TTN, reaching an unequivocal molecular diagnosis and precise disease prognosis remains challenging. Methods: In this case series, 12 unpublished cases and one already published case with biallelic TTNtv were collected from multiple international medical centers between November 2022 and September 2023. TTN mutations were detected through exome or genome sequencing. Information about familial and personal clinical history was collected in a standardized form. RNA-sequencing and analysis of TTN exon usage were performed on an internal sample cohort including postnatal skeletal muscles, fetal skeletal muscles, postnatal heart muscles, and fetal heart muscles. In addition, publicly available RNA-sequencing data was retrieved from ENCODE. Results: We generated new RNA-seq data on TTN exons and identified genotype–phenotype correlations with prognostic implications for each titinopathy patient (whether worsening or improving in prenatal and postnatal life) using percentage spliced in (PSI) data for the involved exons. Interestingly, thanks to exon usage, we were also able to rule out a titinopathy diagnosis in one prenatal case. Interpretation: This study demonstrates that exon usage provides valuable insights for a more exhaustive clinical interpretation of TTNtv; additionally, it may serve as a model for implementing personalized medicine in many other genetic diseases, since most genes undergo alternative splicing., CC BY 4.0First published: 28 August 2024© 2024 The Author(s). Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.Correspondence Address: M.F. Di Feo; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; email: mariafrancescadifeo@gaslini.orgM.S. received support from the Academy of Finland (grant 339437), Association Française contre les Myopathies (grant 23281), Sydäntutkimussäätiö, and Samfundet Folkhälsan i Svenska, Finland. A.O. received supported by Magnus Ehrnrooth Foundation. B.U. received support from the European Joint Program on Rare Diseases (project IDOLS-G), Academy of Finland, Juselius Foundation, and Samfundet Folkhälsan i Svenska Finland. F.M. received support from the European Joint Program on Rare Diseases (project IDOLS-G) and Instituto de Salud Carlos III, Spain (project number AC19/00048). P.H. received support from the Jane and Aatos Erkko foundation.

Published
2024
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45. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Author

Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, Hakonarson, Hakon, Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, and Hakonarson, Hakon

Abstract

Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants in U2AF2 and PRPF19, encoding spliceosome subunits in neurodevelopmental disorders (NDDs), by identifying 46 unrelated individuals with 23 de novo U2AF2 missense variants (including 7 recurrent variants in 30 individuals) and 6 individuals with de novo PRPF19 variants. Eight U2AF2 variants dysregulated splicing of a model substrate. Neuritogenesis was reduced in human neurons differentiated from human pluripotent stem cells carrying two U2AF2 hyper-recurrent variants. Neural loss of function (LoF) of the Drosophila orthologs U2af50 and Prp19 led to lethality, abnormal mushroom body (MB) patterning, and social deficits, which were differentially rescued by wild-type and mutant U2AF2 or PRPF19. Transcriptome profiling revealed splicing substrates or effectors (including Rbfox1, a third splicing factor), which rescued MB defects in U2af50deficient flies. Upon reanalysis of negative clinical exomes followed by data sharing, we further identified 6 patients with NDD who carried RBFOX1 missense variants which, by in vitro testing, showed LoF. Our study implicates 3 splicing factors as NDD-causative genes and establishes a genetic network with hierarchy underlying human brain development and function.

Published
2024

49. BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy

Author

Donkervoort, Sandra, Krause, Niklas, Dergai, Mykola, Yun, Pomi, Koliwer, Judith, Gorokhova, Svetlana, Geist Hauserman, Janelle, Cummings, Beryl B, Hu, Ying, Smith, Rosemarie, Uapinyoying, Prech, Ganesh, Vijay S, Ghosh, Partha S, Monaghan, Kristin G, Edassery, Seby L, Ferle, Pia E, Silverstein, Sarah, Chao, Katherine R, Snyder, Molly, Ellingwood, Sara, Bharucha‐Goebel, Diana, Iannaccone, Susan T, Dal Peraro, Matteo, Foley, A Reghan, Savas, Jeffrey N, Bolduc, Véronique, Fasshauer, Dirk, Bönnemann, Carsten G, and Schwake, Michael

Published
2021
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