Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Desirée E.C. Smith"'
Autor:
Florent Delhommel, Michael Gerstlauer, Maximilian Hastreiter, Maria Forstner, Meino Rohlfs, Tim Jeske, Christina K Rapp, Alba Torrent-Vernetta, Antonio Moreno-Galdó, Birgit Kammer, Nagehan Emiralioglu, Marisa I. Mendes, Yang Li, Michael Sattler, Desirée E.C. Smith, Diclehan Orhan, Matthias Griese, Luise A. Schuch, Frank Brasch, Nural Kiper, Simone Reu-Hofer, Ekim Z. Taskiran
Publikováno v:
Clinical Genetics, 99(6), 789-801. Wiley-Blackwell
Schuch, L A, Forstner, M, Rapp, C K, Li, Y, Smith, D E C, Mendes, M I, Delhommel, F, Sattler, M, Emiralioğlu, N, Taskiran, E Z, Orhan, D, Kiper, N, Rohlfs, M, Jeske, T, Hastreiter, M, Gerstlauer, M, Torrent-Vernetta, A, Moreno-Galdó, A, Kammer, B, Brasch, F, Reu-Hofer, S & Griese, M 2021, ' FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes : Look beyond the lungs! ', Clinical Genetics, vol. 99, no. 6, pp. 789-801 . https://doi.org/10.1111/cge.13943
Schuch, L A, Forstner, M, Rapp, C K, Li, Y, Smith, D E C, Mendes, M I, Delhommel, F, Sattler, M, Emiralioğlu, N, Taskiran, E Z, Orhan, D, Kiper, N, Rohlfs, M, Jeske, T, Hastreiter, M, Gerstlauer, M, Torrent-Vernetta, A, Moreno-Galdó, A, Kammer, B, Brasch, F, Reu-Hofer, S & Griese, M 2021, ' FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes : Look beyond the lungs! ', Clinical Genetics, vol. 99, no. 6, pp. 789-801 . https://doi.org/10.1111/cge.13943
Aminoacyl-tRNA synthetases (ARSs) catalyze the first step of protein biosynthesis (canonical function) and have additional (non-canonical) functions outside of translation. Bi-allelic pathogenic variants in genes encoding ARSs are associated with var
Autor:
Cheryl Cytrynbaum, Francesca Mattioli, Maria J. Guillen Sacoto, Federico Santoni, Rosanna Weksberg, Amina Nasar, Annemarie Fock, Henry Houlden, Shaikh Riazuddin, Tobias B. Haack, Roisin Sullivan, Mona Grimmel, Helen Griffin, Stylianos E. Antonarakis, Nuzhat Rana, Andreea Manole, Marisa I. Mendes, Ayca Dilruba Aslanger, Justyna Iwaszkiewicz, Julia Mohr, Rolph Pfundt, Muhammed Ilyas, Tina Duelund Hjortshøj, Kshitij Mankad, Muhammad Ansar, Katherine M. Christensen, Sonal Desai, Aida Telegrafi, Faisal Zafar, Helena Gásdal Karstensen, Dagan Jenkins, Yue Si, John F. Mantovani, Alice Goldenberg, Sylvain Debard, Muhammad T. Sarwar, Jagdeep S. Walia, Stephanie Efthymiou, Rita Horvath, Vincenzo Salpietro, Reza Maroofian, Jawad Ahmed, Joost Raaphorst, Lindsay B. Henderson, Benyekhlef Kara, Lauren Badalato, Adnan Y. Manzur, Desirée E.C. Smith, Ruben Portier, Marwan Shinawi, Marisa V. Andrews, Gajja S. Salomons, John B. Vincent, Amélie Piton, Felix Distelmaier, Emmanuelle Ranza, Jean-Louis Mandel, Sohail A. Paracha, Marybeth Hummel, Jürg Bähler, Dustin Baldridge, Muhammad A. Usmani, Lu Wang, Maria Rodriguez Lopez, Frédéric Fischer, Annette Seibt, Servi J. C. Stevens, Matthew J. Jennings, Majdi Kara, Amelia Kirby, Hubert Dominique Becker, Kristin W. Barañano, Christopher S. Francklyn, Saima Riazuddin, Rasim Ozgur Rosti, Emer O'Connor, Yalda Jamshidi, Barbara Oehl-Jaschkowitz, Ricardo Harripaul, Anne Marie Jelsig, Anna Sarkozy, Indran Davagnanam, Zubair M. Ahmed, David A. Koolen, Joseph G. Gleeson, Heinz Gabriel, Alkyoni Athanasiou-Fragkouli, Muhammad Ayub, Alejandro Horga, Conny van Ravenwaaij, Bruno Senger, Ingrid M. Wentzensen
Publikováno v:
American Journal of Human Genetics, 107, 2, pp. 311-324
American Journal of Human Genetics, 107(2), 311-324. CELL PRESS
American journal of human genetics, 107(2), 311-324. Cell Press
American Journal of Human Genetics, 107, 311-324
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (2), pp.311-324. ⟨10.1016/j.ajhg.2020.06.016⟩
American Journal of Human Genetics, 107(2), 311-324. Cell Press
Manole, A, Efthymiou, S, O'Connor, E, Mendes, M I, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, M R, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, C S, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, L B, Kara, B, Aslanger, A D, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, K M, Wang, L, Rosti, R O, Paracha, S A, Sarwar, M T, Jenkins, D, Ahmed, J, Santoni, F A, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, I M, Guillen Sacoto, M J, Si, Y, Telegrafi, A, Andrews, M V, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, A J M, Stevens, S J C, Bähler, J, Nasar, A, Mantovani, J F, Manzur, A, Sarkozy, A, Smith, D E C, Salomons, G S, Ahmed, Z M, Riazuddin, S, Riazuddin, S, Usmani, M A, Seibt, A, Ansar, M, Antonarakis, S E, Vincent, J B, Ayub, M, Grimmel, M, Jelsig, A M, Hjortshøj, T D, Karstensen, H G, Hummel, M, Haack, T B, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, J G, Becker, H, Mandel, J L, Koolen, D A, Houlden, H & SYNAPS Study Group 2020, ' De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects ', American journal of human genetics, vol. 107, no. 2, pp. 311-324 . https://doi.org/10.1016/j.ajhg.2020.06.016
Am J Hum Genet
American Journal of Human Genetics, 107(2), 311-324. CELL PRESS
American journal of human genetics, 107(2), 311-324. Cell Press
American Journal of Human Genetics, 107, 311-324
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (2), pp.311-324. ⟨10.1016/j.ajhg.2020.06.016⟩
American Journal of Human Genetics, 107(2), 311-324. Cell Press
Manole, A, Efthymiou, S, O'Connor, E, Mendes, M I, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, M R, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, C S, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, L B, Kara, B, Aslanger, A D, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, K M, Wang, L, Rosti, R O, Paracha, S A, Sarwar, M T, Jenkins, D, Ahmed, J, Santoni, F A, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, I M, Guillen Sacoto, M J, Si, Y, Telegrafi, A, Andrews, M V, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, A J M, Stevens, S J C, Bähler, J, Nasar, A, Mantovani, J F, Manzur, A, Sarkozy, A, Smith, D E C, Salomons, G S, Ahmed, Z M, Riazuddin, S, Riazuddin, S, Usmani, M A, Seibt, A, Ansar, M, Antonarakis, S E, Vincent, J B, Ayub, M, Grimmel, M, Jelsig, A M, Hjortshøj, T D, Karstensen, H G, Hummel, M, Haack, T B, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, J G, Becker, H, Mandel, J L, Koolen, D A, Houlden, H & SYNAPS Study Group 2020, ' De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects ', American journal of human genetics, vol. 107, no. 2, pp. 311-324 . https://doi.org/10.1016/j.ajhg.2020.06.016
Am J Hum Genet
Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino acids to cognate tRNA molecules, the essential first step of protein translation. Here, we describe 32 individuals from 21 families, presenting with microcephaly, neu
Autor:
Donata Orioli, Wim Vermeulen, Alain Sarasin, Sarah Giachetti, Silvia Bione, Jan H.J. Hoeijmakers, Anja Raams, Desirée E.C. Smith, Giuseppina Caligiuri, Marisa I. Mendes, Elena Botta, Tomoo Ogi, Arjan F. Theil, Gajja S. Salomons, Sigrid M.A. Swagemakers, Peter J. van der Spek, Luca Zardoni, Giordano Liberi, Alan R. Lehmann, Roberta Carriero
Publikováno v:
American journal of human genetics, 105(2), 434-440. Cell Press
The American Journal of Human Genetics
American Journal of Human Genetics, 105(2), 434-440. Cell Press
Theil, A F, Botta, E, Raams, A, Smith, D E C, Mendes, M I, Caligiuri, G, Giachetti, S, Bione, S, Carriero, R, Liberi, G, Zardoni, L, Swagemakers, S M A, Salomons, G S, Sarasin, A, Lehmann, A, van der Spek, P J, Ogi, T, Hoeijmakers, J H J, Vermeulen, W & Orioli, D 2019, ' Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype ', American journal of human genetics, vol. 105, no. 2, pp. 434-440 . https://doi.org/10.1016/j.ajhg.2019.06.017
The American Journal of Human Genetics
American Journal of Human Genetics, 105(2), 434-440. Cell Press
Theil, A F, Botta, E, Raams, A, Smith, D E C, Mendes, M I, Caligiuri, G, Giachetti, S, Bione, S, Carriero, R, Liberi, G, Zardoni, L, Swagemakers, S M A, Salomons, G S, Sarasin, A, Lehmann, A, van der Spek, P J, Ogi, T, Hoeijmakers, J H J, Vermeulen, W & Orioli, D 2019, ' Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype ', American journal of human genetics, vol. 105, no. 2, pp. 434-440 . https://doi.org/10.1016/j.ajhg.2019.06.017
Brittle and “tiger-tail” hair is the diagnostic hallmark of trichothiodystrophy (TTD), a rare recessive disease associated with a wide spectrum of clinical features including ichthyosis, intellectual disability, decreased fertility, and short sta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abe0636d65852d8e8df136ce912eec33
https://research.vumc.nl/en/publications/0c06edec-9ffe-44a6-b2a0-649bde87a288
https://research.vumc.nl/en/publications/0c06edec-9ffe-44a6-b2a0-649bde87a288
Autor:
Kiely N. James, Shareef Nahas, Valentina Stanley, Gajja S. Salomons, Mahmoud Y. Issa, Tarek Omar, Geneviève Bernard, Kristen Wigby, Maha S. Zaki, Wing-Sze Lo, Luan T. Tran, David Dimmock, Damir Musaev, Marisa I. Mendes, Amber Hildreth, Andrea Accogli, Jennifer Friedman, Joseph G. Gleeson, Stephen F. Kingsmore, Zhiwen Xu, Desirée E.C. Smith, Alanna E. Koehler, John R. Crawford, Kether Guerrero, Shimul Chowdhury, Liting Zhai, Tawfeg Ben-Omran, Meredith S. Wright, Rengang Wang
Publikováno v:
Nature communications, vol 10, iss 1
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Friedman, J, Smith, D E, Issa, M Y, Stanley, V, Wang, R, Mendes, M I, Wright, M S, Wigby, K, Hildreth, A, Crawford, J R, Koehler, A E, Chowdhury, S, Nahas, S, Zhai, L, Xu, Z, Lo, W-S, James, K N, Musaev, D, Accogli, A, Guerrero, K, Tran, L T, Omar, T E I, Ben-Omran, T, Dimmock, D, Kingsmore, S F, Salomons, G S, Zaki, M S, Bernard, G & Gleeson, J G 2019, ' Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy ', Nature Communications, vol. 10, no. 1, 707 . https://doi.org/10.1038/s41467-018-07067-3
Nature Communications
Nature Communications, 10(1):707. Nature Publishing Group
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Friedman, J, Smith, D E, Issa, M Y, Stanley, V, Wang, R, Mendes, M I, Wright, M S, Wigby, K, Hildreth, A, Crawford, J R, Koehler, A E, Chowdhury, S, Nahas, S, Zhai, L, Xu, Z, Lo, W-S, James, K N, Musaev, D, Accogli, A, Guerrero, K, Tran, L T, Omar, T E I, Ben-Omran, T, Dimmock, D, Kingsmore, S F, Salomons, G S, Zaki, M S, Bernard, G & Gleeson, J G 2019, ' Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy ', Nature Communications, vol. 10, no. 1, 707 . https://doi.org/10.1038/s41467-018-07067-3
Nature Communications
Nature Communications, 10(1):707. Nature Publishing Group
Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72c2f11a959c77b38f909d76c878ca20
https://escholarship.org/uc/item/7527h1v1
https://escholarship.org/uc/item/7527h1v1
Autor:
Bernhard Weschke, Geneviève Bernard, Diane Forget, Wolfgang Koehler, Quinten Waisfisz, Desirée E.C. Smith, Gajja S. Salomons, Hanna Mierzewska, Nicole I. Wolf, Isabelle Thiffault, Benoit Coulombe, L Gauquelin, Marisa I. Mendes, Aida Lemes, Iris Marquardt, Mariana Gutierrez Salazar, Kether Guerrero, Luan T. Tran, Marjo S. van der Knaap, Marie-Soleil Gauthier, Cas Simons
Publikováno v:
Mendes, M I, Salazar, M G, Guerrero, K, Thiffault, I, Salomons, G S, Gauquelin, L, Tran, L T, Forget, D, Gauthier, M-S, Waisfisz, Q, Smith, D E C, Simons, C, van der Knaap, M S, Marquardt, I, Lemes, A, Mierzewska, H, Weschke, B, Koehler, W, Coulombe, B, Wolf, N I & Bernard, G 2018, ' Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy ', American journal of human genetics, vol. 102, no. 4, pp. 676-684 . https://doi.org/10.1016/j.ajhg.2018.02.011
American Journal of Human Genetics, 102(4), 676-684. Cell Press
American journal of human genetics, 102(4), 676-684. Cell Press
Mendes, M I, Gutierrez Salazar, M, Guerrero, K, Thiffault, I, Salomons, G S, Gauquelin, L, Tran, L T, Forget, D, Gauthier, M S, Waisfisz, Q, Smith, D E C, Simons, C, van der Knaap, M S, Marquardt, I, Lemes, A, Mierzewska, H, Weschke, B, Koehler, W, Coulombe, B, Wolf, N I & Bernard, G 2018, ' Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy ', American Journal of Human Genetics, vol. 102, no. 4, pp. 676-684 . https://doi.org/10.1016/j.ajhg.2018.02.011
American Journal of Human Genetics, 102(4), 676-684. Cell Press
American journal of human genetics, 102(4), 676-684. Cell Press
Mendes, M I, Gutierrez Salazar, M, Guerrero, K, Thiffault, I, Salomons, G S, Gauquelin, L, Tran, L T, Forget, D, Gauthier, M S, Waisfisz, Q, Smith, D E C, Simons, C, van der Knaap, M S, Marquardt, I, Lemes, A, Mierzewska, H, Weschke, B, Koehler, W, Coulombe, B, Wolf, N I & Bernard, G 2018, ' Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy ', American Journal of Human Genetics, vol. 102, no. 4, pp. 676-684 . https://doi.org/10.1016/j.ajhg.2018.02.011
Hypomyelinating leukodystrophies are genetic disorders characterized by insufficient myelin deposition during development. They are diagnosed on the basis of both clinical and MRI features followed by genetic confirmation. Here, we report on four unr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9444ea60515031288d63514a99f372e2
https://research.vumc.nl/en/publications/567b022d-5a89-4033-9732-cc2d43be84b8
https://research.vumc.nl/en/publications/567b022d-5a89-4033-9732-cc2d43be84b8
Autor:
Paula Leandro, Ana Pop, Leo A. J. Kluijtmans, Gajja S. Salomons, Henrique G. Colaço, Marisa I. Mendes, Henk J. Blom, Isabel Tavares de Almeida, Desirée E.C. Smith, Ruben Ramos, Isabel Rivera, Mirian C. H. Janssen, Silvy J. M. van Dooren
Publikováno v:
Journal of Inherited Metabolic Disease, 37(2), 245-254. Springer Netherlands
Mendes, M I S, Colaco, H G, Smith, D E C, Ramos, R J J F, Pop, A, van Dooren, S J M, de Almeida, I T, Kluijtmans, L A J, Janssen, M C H, Rivera, I, Salomons, G S, Leandro, P & Blom, H J 2014, ' Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients ', Journal of Inherited Metabolic Disease, vol. 37, no. 2, pp. 245-254 . https://doi.org/10.1007/s10545-013-9647-6
Journal of Inherited Metabolic Disease, 37, 2, pp. 245-54
Journal of Inherited Metabolic Disease, 37, 245-54
Mendes, M I S, Colaco, H G, Smith, D E C, Ramos, R J J F, Pop, A, van Dooren, S J M, de Almeida, I T, Kluijtmans, L A J, Janssen, M C H, Rivera, I, Salomons, G S, Leandro, P & Blom, H J 2014, ' Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients ', Journal of Inherited Metabolic Disease, vol. 37, no. 2, pp. 245-254 . https://doi.org/10.1007/s10545-013-9647-6
Journal of Inherited Metabolic Disease, 37, 2, pp. 245-54
Journal of Inherited Metabolic Disease, 37, 245-54
A reduced response of cystathionine beta-synthase (CBS) to its allosteric activator S-adenosylmethionine (SAM) has been reported to be a cause of CBS dysfunction in homocystinuria patients. In this work we performed a retrospective analysis of fibrob