Zobrazeno 1 - 10
of 41
pro vyhledávání: '"M. Mahdi Motazacker"'
Autor:
Michael A. Levy, David B. Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nougues, Boris Keren, Hannah W. Moore, Renske Oegema, Jacques C. Giltay, Marleen Simon, Richard H. van Jaarsveld, Jessica Bos, Mieke van Haelst, M. Mahdi Motazacker, Elles M. J. Boon, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Marielle Alders, Teresa Romeo Luperchio, Leandros Boukas, Keri Ramsey, Vinodh Narayanan, G. Bradley Schaefer, Roberto Bonasio, Kimberly F. Doheny, Roger E. Stevenson, Sidharth Banka, Bekim Sadikovic, Jill A. Fahrner
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-15 (2021)
Abstract TET3 encodes an essential dioxygenase involved in epigenetic regulation through DNA demethylation. TET3 deficiency, or Beck-Fahrner syndrome (BEFAHRS; MIM: 618798), is a recently described neurodevelopmental disorder of the DNA demethylation
Externí odkaz:
https://doaj.org/article/b671baf57f4d42619acfe5843fbbb345
Autor:
Michael A. Levy, David B. Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nougues, Boris Keren, Hannah W. Moore, Renske Oegema, Jacques C. Giltay, Marleen Simon, Richard H. van Jaarsveld, Jessica Bos, Mieke van Haelst, M. Mahdi Motazacker, Elles M. J. Boon, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Marielle Alders, Teresa Romeo Luperchio, Leandros Boukas, Keri Ramsey, Vinodh Narayanan, G. Bradley Schaefer, Roberto Bonasio, Kimberly F. Doheny, Roger E. Stevenson, Siddharth Banka, Bekim Sadikovic, Jill A. Fahrner
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/9827b109ef8940f7bf82494873e7341a
Autor:
Roseline Caume, M Scott Perry, Massimo Mastrangelo, Margarete Koch-Hogrebe, Pasquale Striano, Karen Müller-Schlüter, Petra Laššuthová, Monisa D. Wagner, Ingo Helbig, Stephan Lauxmann, Emmanuel Scalais, Marie-Cécile Nassogne, Silvia Masnada, Henrike O. Heyne, Konrad Platzer, Frederic Bilan, Chloe A Stutterd, Sonja Walsh, Katrine M Johannesen, Damien Lederer, Ngoc Minh Le, Christina Fenger, Daniel Tibussek, Lukas Sonnenberg, Andrea Berger, Yuanyuan Liu, Mikhail Abramov, Karen E. Wain, Sergey Korostelev, P Y Billie Au, Elena L. Dadali, An-Sofie Schoonjans, Cornelia Betzler, Artem Borovikov, Johanna Krüger, Maert Rannap, Sebastian Lebon, Nils A Koch, Nancy Eisenhauer, Judith Kroell-Seger, Julian Schubert, Marije Meuwissen, Caroline Lund, Mark Fitzgerald, Federico Zara, Siddharth Srivastava, Claudia M Bonardi, Pia Zacher, Haim Bassan, Arve Vøllo, Katherine B. Howell, Francesca Darra, Guido Rubboli, Stephen W. Scherer, Bénédicte Gérard, Stefano Sartori, Annapurna Poduri, Helene Verhelst, Katalin Sterbova, Mathilde Nizon, Marketa Vlckova, Christina E. Hoei-Hansen, Renzo Guerrini, Ilya V. Kanivets, Juliann M. Savatt, Johannes Rebstock, Jakob Christensen, Cecilia Altuzarra, Dennis Lal, Judith S. Verhoeven, Agathe Roubertie, Constanze Heine, Dagmar Wieczorek, Ingo Borggraefe, Aster V. E. Harder, Anne Destrée, Wen-Hann Tan, Tobias Brünger, Shoji Ichikawa, Laura Canafoglia, Mahmoud Koko, Sergey Kutsev, Sabine Grønborg, Patrizia Accorsi, Heather E. Olson, Bert van der Zwaag, Cathrine E Gjerulfsen, Patrick May, A. A. Sharkov, M. Mahdi Motazacker, Manuela Pendziwiat, Richard J. Leventer, Anna Jansen, Lucio Giordano, Holger Lerche, Carla Marini, Karl Martin Klein, Eva H. Brilstra, Ahmed Eltokhi, Ethan M. Goldberg, Walid Fazeli, Rikke S. Møller, Dorota Hoffman-Zacharska, Michael Alber, Susanne Ruf, Jennifer L. Howe, Phillis Lakeman, Josua Kegele, Katherine L. Helbig, Marga Buzatu, Alice W Ho, Jan Benda, Ilona Krey, Marion Gérard, Sara Matricardi, Thomas U. Mayer, Philippe Gelisse, Jong M. Rho, Johannes R. Lemke, Pierangelo Veggiotti, Tobias Loddenkemper, Gaetan Lesca, Ulrike B. S. Hedrich, Silvana Franceschetti, Elena Gardella, Irina Mishina, María Vaccarezza, Timo Roser
Publikováno v:
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain : a journal of neurology, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Brain
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B N, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Brain, 145(9), 2991-3009. Oxford University Press
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain : a journal of neurology, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Brain
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B N, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Brain, 145(9), 2991-3009. Oxford University Press
We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel Nav1.6, with the aim of describing clinical phenotypes related to functio
Autor:
Victor Murcia Pienkowski, Saima Riazuddin, Matthew J. Schultz, S. Amer Riazuddin, Foong-Yen Lim, Nicola Perrotti, Claudia Gonzaga-Jauregui, Muhammad A. Usmani, Zubair M. Ahmed, Hane Lee, Erik G. Puffenberger, Anneke J.A. Kievit, Tommaso Pippucci, Pamela Magini, Emma Colao, M. Mahdi Motazacker, Rebecca Hernan, Mureed Hussain, Karlla W. Brigatti, Wendy K. Chung, Matias Wagner, Marco Seri, Mohsin Shahzad, Brendan C. Lanpher, Zhiyv Niu, Karolina Matuszewska, Hans van Bokhoven, Faiza Rasheed, J. S. Klein Wassink-Ruiter, Kristen J. Rasmussen, Verena Kraus, Jessica Kianmahd, Julian A. Martinez-Agosto, Flavia Palombo, Rafał Płoski, Sheikh Riazuddin
Publikováno v:
American Journal of Human Genetics, 108, 1330-1341
American journal of human genetics, 108(7), 1330-1341. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 108, 7, pp. 1330-1341
American Journal of Human Genetics, 108(7), 1330-1341. CELL PRESS
American Journal of Human Genetics, 108(7), 1330-1341. Cell Press
Am. J. Hum. Genet. 108, 1330-1341 (2021)
American journal of human genetics, 108(7), 1330-1341. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 108, 7, pp. 1330-1341
American Journal of Human Genetics, 108(7), 1330-1341. CELL PRESS
American Journal of Human Genetics, 108(7), 1330-1341. Cell Press
Am. J. Hum. Genet. 108, 1330-1341 (2021)
Adaptor protein (AP) complexes mediate selective intracellular vesicular trafficking and polarized localization of somatodendritic proteins in neurons. Disease-causing alleles of various subunits of AP complexes have been implicated in several herita
Autor:
Paul J. Hengeveld, Y. Emre Ertem, Julie M. N. Dubois, Clemens H. M. Mellink, Anne-Marie van der Kevie-Kersemaekers, Ludo M. Evers, Kim Heezen, P. Martijn Kolijn, Olaf R. F. Mook, M. Mahdi Motazacker, Kazem Nasserinejad, S. Kersting, Peter E. Westerweel, Carsten U. Niemann, Arnon P. Kater, Anton W. Langerak, Mark-David Levin
Publikováno v:
Leukemia, 36(7), 1935-1938. Nature Publishing Group
Hengeveld, P J, Ertem, Y E, Dubois, J M N, Mellink, C H M, van der Kevie-Kersemaekers, A-M, Evers, L M, Heezen, K, Kolijn, P M, Mook, O R F, Motazacker, M M, Nasserinejad, K, Kersting, S, Westerweel, P E, Niemann, C U, Kater, A P, Langerak, A W & Levin, M-D 2022, ' Clinicobiological characteristics and treatment efficacy of novel agents in chronic lymphocytic leukemia with IGLV3-21R110 ', Leukemia, vol. 36, no. 7, pp. 1935-1938 . https://doi.org/10.1038/s41375-022-01600-6
Hengeveld, P J, Ertem, Y E, Dubois, J M N, Mellink, C H M, van der Kevie-Kersemaekers, A-M, Evers, L M, Heezen, K, Kolijn, P M, Mook, O R F, Motazacker, M M, Nasserinejad, K, Kersting, S, Westerweel, P E, Niemann, C U, Kater, A P, Langerak, A W & Levin, M-D 2022, ' Clinicobiological characteristics and treatment efficacy of novel agents in chronic lymphocytic leukemia with IGLV3-21R110 ', Leukemia, vol. 36, no. 7, pp. 1935-1938 . https://doi.org/10.1038/s41375-022-01600-6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faddf632bed0aa0326c60d56e6fb24a1
https://pure.eur.nl/en/publications/cca58e3c-bfba-46df-b5e8-942d64040987
https://pure.eur.nl/en/publications/cca58e3c-bfba-46df-b5e8-942d64040987
Autor:
Paul J, Hengeveld, Y Emre, Ertem, Julie M N, Dubois, Clemens H M, Mellink, Anne-Marie, van der Kevie-Kersemaekers, Ludo M, Evers, Kim, Heezen, P Martijn, Kolijn, Olaf R F, Mook, M Mahdi, Motazacker, Kazem, Nasserinejad, S, Kersting, Peter E, Westerweel, Carsten U, Niemann, Arnon P, Kater, Anton W, Langerak, Mark-David, Levin
Publikováno v:
Leukemia. 36(7)
Autor:
Sahar Esmaeeli-Nieh, Michaela Fenckova, Iain M Porter, M Mahdi Motazacker, Bonnie Nijhof, Anna Castells-Nobau, Zoltan Asztalos, Robert Weißmann, Farkhondeh Behjati, Andreas Tzschach, Ute Felbor, Harry Scherthan, Seyed Morteza Sayfati, H Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Jason R Swedlow, Annette Schenck, Andreas W Kuss
Publikováno v:
PLoS Genetics, Vol 12, Iss 5, p e1006022 (2016)
Here we report a stop-mutation in the BOD1 (Biorientation Defective 1) gene, which co-segregates with intellectual disability in a large consanguineous family, where individuals that are homozygous for the mutation have no detectable BOD1 mRNA or pro
Externí odkaz:
https://doaj.org/article/fdc77123695841afb9a2e0657546489b
Autor:
Roya Mostafavi, M. Mahdi Motazacker, Julie M. Gastier-Foster, Cheryl Garganta, Kristen V. Truxal, Eline Overwater, Mieke M. van Haelst, Eniko K. Pivnick, Laurence E. Walsh, Valerie J. Castelluccio, Elizabeth S. Barrie, Erin Crist, Tara Chandra Narumanchi, Asim F. Choudhri
Publikováno v:
American Journal of Medical Genetics, Part A, 182(5), 1201-1208. Wiley-Liss Inc.
Barrie, E S, Overwater, E, van Haelst, M M, Motazacker, M M, Truxal, K V, Crist, E, Mostafavi, R, Pivnick, E K, Choudhri, A F, Narumanchi, T C, Castelluccio, V, Walsh, L E, Garganta, C & Gastier-Foster, J M 2020, ' Expanding the spectrum of CEP55-associated disease to viable phenotypes ', American Journal of Medical Genetics, Part A, vol. 182, no. 5, pp. 1201-1208 . https://doi.org/10.1002/ajmg.a.61512
American journal of medical genetics. Part A, 182(5), 1201-1208. Wiley-Liss Inc.
Barrie, E S, Overwater, E, van Haelst, M M, Motazacker, M M, Truxal, K V, Crist, E, Mostafavi, R, Pivnick, E K, Choudhri, A F, Narumanchi, T C, Castelluccio, V, Walsh, L E, Garganta, C & Gastier-Foster, J M 2020, ' Expanding the spectrum of CEP55-associated disease to viable phenotypes ', American Journal of Medical Genetics, Part A, vol. 182, no. 5, pp. 1201-1208 . https://doi.org/10.1002/ajmg.a.61512
American journal of medical genetics. Part A, 182(5), 1201-1208. Wiley-Liss Inc.
Homozygosity for nonsense variants in CEP55 has been associated with a lethal condition characterized by multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly (MARCH syndrome) also known as Meckel-like synd
Autor:
Trudie Cottrell, Jacques C. Giltay, Richard H. van Jaarsveld, Elles M. J. Boon, Roger E. Stevenson, Michael A. Levy, Kimberly F. Doheny, Bekim Sadikovic, G. Bradley Schaefer, Roberto Bonasio, Muhammad Ansar, Vinodh Narayanan, Mieke M. van Haelst, Jill A. Fahrner, Marleen Simon, David B. Beck, Claudia A. L. Ruivenkamp, Sivagamy Sithambaram, Teresa Romeo Luperchio, Leandros Boukas, Marie-Christine Nougues, Hannah W. Moore, Marielle Alders, Renske Oegema, M. Mahdi Motazacker, Kay Metcalfe, Cyril Mignot, Jennifer Kerkhof, Gijs W. E. Santen, Jessica Bos, Sofia Douzgou, Siddharth Banka, Keri Ramsey, Boris Keren
Publikováno v:
npj Genomic Medicine, 6(1):92. Nature Publishing Group
NPJ Genomic Medicine
npj Genomic Medicine, 6(1). NATURE PORTFOLIO
Levy, M A, Beck, D B, Metcalfe, K, Douzgou, S, Sithambaram, S, Cottrell, T, Ansar, M, Kerkhof, J, Mignot, C, Nougues, M-C, Keren, B, Moore, H W, Oegema, R, Giltay, J C, Simon, M, van Jaarsveld, R H, Bos, J, van Haelst, M, Motazacker, M M, Boon, E M J, Santen, G W E, Ruivenkamp, C A L, Alders, M, Luperchio, T R, Boukas, L, Ramsey, K, Narayanan, V, Schaefer, G B, Bonasio, R, Doheny, K F, Stevenson, R E, Banka, S, Sadikovic, B & Fahrner, J A 2021, ' Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood ', NPJ GENOMIC MEDICINE, vol. 6, no. 1, 92 . https://doi.org/10.1038/s41525-021-00256-y
NPJ GENOMIC MEDICINE, 6(1):92. Nature Publishing Group
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-15 (2021)
NPJ Genomic Medicine
npj Genomic Medicine, 6(1). NATURE PORTFOLIO
Levy, M A, Beck, D B, Metcalfe, K, Douzgou, S, Sithambaram, S, Cottrell, T, Ansar, M, Kerkhof, J, Mignot, C, Nougues, M-C, Keren, B, Moore, H W, Oegema, R, Giltay, J C, Simon, M, van Jaarsveld, R H, Bos, J, van Haelst, M, Motazacker, M M, Boon, E M J, Santen, G W E, Ruivenkamp, C A L, Alders, M, Luperchio, T R, Boukas, L, Ramsey, K, Narayanan, V, Schaefer, G B, Bonasio, R, Doheny, K F, Stevenson, R E, Banka, S, Sadikovic, B & Fahrner, J A 2021, ' Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood ', NPJ GENOMIC MEDICINE, vol. 6, no. 1, 92 . https://doi.org/10.1038/s41525-021-00256-y
NPJ GENOMIC MEDICINE, 6(1):92. Nature Publishing Group
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-15 (2021)
TET3 encodes an essential dioxygenase involved in epigenetic regulation through DNA demethylation. TET3 deficiency, or Beck-Fahrner syndrome (BEFAHRS; MIM: 618798), is a recently described neurodevelopmental disorder of the DNA demethylation machiner
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e7a4f9d28f382a7f3fbe53f6e51e36e
https://pure.amc.nl/en/publications/deficiency-of-tet3-leads-to-a-genomewide-dna-hypermethylation-episignature-in-human-whole-blood(5bc0d878-ad8f-46d9-b824-73ea86edb6dd).html
https://pure.amc.nl/en/publications/deficiency-of-tet3-leads-to-a-genomewide-dna-hypermethylation-episignature-in-human-whole-blood(5bc0d878-ad8f-46d9-b824-73ea86edb6dd).html
Autor:
Renske Oegema, Vinodh Narayanan, Marleen Simon, Trudie Cottrell, Marie-Christine Nougues, Mieke M. van Haelst, Gijs W. E. Santen, Roger E. Stevenson, Keri Ramsey, Kay Metcalfe, Jacques C. Giltay, Sivagamy Sithambaram, Teresa Romeo Luperchio, Leandros Boukas, Marielle Alders, Hannah W. Moore, Claudia A. L. Ruivenkamp, Jessica Bos, Richard H. van Jaarsveld, Jill A. Fahrner, David B. Beck, Sofia Douzgou, Jennifer Kerkhof, Muhammad Ansar, Michael A. Levy, G. Bradley Schaefer, Siddharth Banka, Roberto Bonasio, Kimberly F. Doheny, M. Mahdi Motazacker, Cyril Mignot, Elles M. J. Boon, Boris Keren, Bekim Sadikovic
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)