10 results on '"Fryer, Alan"'
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2. Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
- Author
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Jenkinson, Emma M, primary, Rodero, Mathieu P, additional, Kasher, Paul R, additional, Uggenti, Carolina, additional, Oojageer, Anthony, additional, Goosey, Laurence C, additional, Rose, Yoann, additional, Kershaw, Christopher J, additional, Urquhart, Jill E, additional, Williams, Simon G, additional, Bhaskar, Sanjeev S, additional, O'Sullivan, James, additional, Baerlocher, Gabriela M, additional, Haubitz, Monika, additional, Aubert, Geraldine, additional, Barañano, Kristin W, additional, Barnicoat, Angela J, additional, Battini, Roberta, additional, Berger, Andrea, additional, Blair, Edward M, additional, Brunstrom-Hernandez, Janice E, additional, Buckard, Johannes A, additional, Cassiman, David M, additional, Caumes, Rosaline, additional, Cordelli, Duccio M, additional, De Waele, Liesbeth M, additional, Fay, Alexander J, additional, Ferreira, Patrick, additional, Fletcher, Nicholas A, additional, Fryer, Alan E, additional, Goel, Himanshu, additional, Hemingway, Cheryl A, additional, Henneke, Marco, additional, Hughes, Imelda, additional, Jefferson, Rosalind J, additional, Kumar, Ram, additional, Lagae, Lieven, additional, Landrieu, Pierre G, additional, Lourenço, Charles M, additional, Malpas, Timothy J, additional, Mehta, Sarju G, additional, Metz, Imke, additional, Naidu, Sakkubai, additional, Õunap, Katrin, additional, Panzer, Axel, additional, Prabhakar, Prab, additional, Quaghebeur, Gerardine, additional, Schiffmann, Raphael, additional, Sherr, Elliott H, additional, Sinnathuray, Kanaga R, additional, Soh, Calvin, additional, Stewart, Helen S, additional, Stone, John, additional, Van Esch, Hilde, additional, Van Mol, Christine E G, additional, Vanderver, Adeline, additional, Wakeling, Emma L, additional, Whitney, Andrea, additional, Pavitt, Graham D, additional, Griffiths-Jones, Sam, additional, Rice, Gillian I, additional, Revy, Patrick, additional, van der Knaap, Marjo S, additional, Livingston, John H, additional, O'Keefe, Raymond T, additional, and Crow, Yanick J, additional
- Published
- 2017
- Full Text
- View/download PDF
3. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
- Author
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Jenkinson, Emma M, primary, Rodero, Mathieu P, additional, Kasher, Paul R, additional, Uggenti, Carolina, additional, Oojageer, Anthony, additional, Goosey, Laurence C, additional, Rose, Yoann, additional, Kershaw, Christopher J, additional, Urquhart, Jill E, additional, Williams, Simon G, additional, Bhaskar, Sanjeev S, additional, O'Sullivan, James, additional, Baerlocher, Gabriela M, additional, Haubitz, Monika, additional, Aubert, Geraldine, additional, Barañano, Kristin W, additional, Barnicoat, Angela J, additional, Battini, Roberta, additional, Berger, Andrea, additional, Blair, Edward M, additional, Brunstrom-Hernandez, Janice E, additional, Buckard, Johannes A, additional, Cassiman, David M, additional, Caumes, Rosaline, additional, Cordelli, Duccio M, additional, De Waele, Liesbeth M, additional, Fay, Alexander J, additional, Ferreira, Patrick, additional, Fletcher, Nicholas A, additional, Fryer, Alan E, additional, Goel, Himanshu, additional, Hemingway, Cheryl A, additional, Henneke, Marco, additional, Hughes, Imelda, additional, Jefferson, Rosalind J, additional, Kumar, Ram, additional, Lagae, Lieven, additional, Landrieu, Pierre G, additional, Lourenço, Charles M, additional, Malpas, Timothy J, additional, Mehta, Sarju G, additional, Metz, Imke, additional, Naidu, Sakkubai, additional, Õunap, Katrin, additional, Panzer, Axel, additional, Prabhakar, Prab, additional, Quaghebeur, Gerardine, additional, Schiffmann, Raphael, additional, Sherr, Elliott H, additional, Sinnathuray, Kanaga R, additional, Soh, Calvin, additional, Stewart, Helen S, additional, Stone, John, additional, Van Esch, Hilde, additional, Van Mol, Christine E G, additional, Vanderver, Adeline, additional, Wakeling, Emma L, additional, Whitney, Andrea, additional, Pavitt, Graham D, additional, Griffiths-Jones, Sam, additional, Rice, Gillian I, additional, Revy, Patrick, additional, van der Knaap, Marjo S, additional, Livingston, John H, additional, O'Keefe, Raymond T, additional, and Crow, Yanick J, additional
- Published
- 2016
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- View/download PDF
4. De novo mutations in MSL3cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
- Author
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Basilicata, M. Felicia, Bruel, Ange-Line, Semplicio, Giuseppe, Valsecchi, Claudia Isabelle Keller, Aktas, Tugçe, Duffourd, Yannis, Rumpf, Tobias, Morton, Jenny, Bache, Iben, Szymanski, Witold G., Gilissen, Christian, Vanakker, Olivier, Õunap, Katrin, Mittler, Gerhard, van der Burgt, Ineke, El Chehadeh, Salima, Cho, Megan T., Pfundt, Rolph, Tan, Tiong Yang, Kirchhoff, Maria, Menten, Björn, Vergult, Sarah, Lindstrom, Kristin, Reis, André, Johnson, Diana S., Fryer, Alan, McKay, Victoria, Fisher, Richard B., Thauvin-Robinet, Christel, Francis, David, Roscioli, Tony, Pajusalu, Sander, Radtke, Kelly, Ganesh, Jaya, Brunner, Han G., Wilson, Meredith, Faivre, Laurence, Kalscheuer, Vera M., Thevenon, Julien, and Akhtar, Asifa
- Abstract
The etiological spectrum of ultra-rare developmental disorders remains to be fully defined. Chromatin regulatory mechanisms maintain cellular identity and function, where misregulation may lead to developmental defects. Here, we report pathogenic variations in MSL3, which encodes a member of the chromatin-associated male-specific lethal (MSL) complex responsible for bulk histone H4 lysine 16 acetylation (H4K16ac) in flies and mammals. These variants cause an X-linked syndrome affecting both sexes. Clinical features of the syndrome include global developmental delay, progressive gait disturbance, and recognizable facial dysmorphism. MSL3 mutations affect MSL complex assembly and activity, accompanied by a pronounced loss of H4K16ac levels in vivo. Patient-derived cells display global transcriptome alterations of pathways involved in morphogenesis and cell migration. Finally, we use histone deacetylase inhibitors to rebalance acetylation levels, alleviating some of the molecular and cellular phenotypes of patient cells. Taken together, we characterize a syndrome that allowed us to decipher the developmental importance of MSL3 in humans.
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- 2018
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5. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
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Van Houdt, Jeroen K J, primary, Nowakowska, Beata Anna, additional, Sousa, Sérgio B, additional, van Schaik, Barbera D C, additional, Seuntjens, Eve, additional, Avonce, Nelson, additional, Sifrim, Alejandro, additional, Abdul-Rahman, Omar A, additional, van den Boogaard, Marie-José H, additional, Bottani, Armand, additional, Castori, Marco, additional, Cormier-Daire, Valérie, additional, Deardorff, Matthew A, additional, Filges, Isabel, additional, Fryer, Alan, additional, Fryns, Jean-Pierre, additional, Gana, Simone, additional, Garavelli, Livia, additional, Gillessen-Kaesbach, Gabriele, additional, Hall, Bryan D, additional, Horn, Denise, additional, Huylebroeck, Danny, additional, Klapecki, Jakub, additional, Krajewska-Walasek, Malgorzata, additional, Kuechler, Alma, additional, Lines, Matthew A, additional, Maas, Saskia, additional, MacDermot, Kay D, additional, McKee, Shane, additional, Magee, Alex, additional, de Man, Stella A, additional, Moreau, Yves, additional, Morice-Picard, Fanny, additional, Obersztyn, Ewa, additional, Pilch, Jacek, additional, Rosser, Elizabeth, additional, Shannon, Nora, additional, Stolte-Dijkstra, Irene, additional, Van Dijck, Patrick, additional, Vilain, Catheline, additional, Vogels, Annick, additional, Wakeling, Emma, additional, Wieczorek, Dagmar, additional, Wilson, Louise, additional, Zuffardi, Orsetta, additional, van Kampen, Antoine H C, additional, Devriendt, Koenraad, additional, Hennekam, Raoul, additional, and Vermeesch, Joris Robert, additional
- Published
- 2012
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6. Mutations in the pre-replication complex cause Meier-Gorlin syndrome
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Bicknell, Louise S, primary, Bongers, Ernie M H F, additional, Leitch, Andrea, additional, Brown, Stephen, additional, Schoots, Jeroen, additional, Harley, Margaret E, additional, Aftimos, Salim, additional, Al-Aama, Jumana Y, additional, Bober, Michael, additional, Brown, Paul A J, additional, van Bokhoven, Hans, additional, Dean, John, additional, Edrees, Alaa Y, additional, Feingold, Murray, additional, Fryer, Alan, additional, Hoefsloot, Lies H, additional, Kau, Nikolaus, additional, Knoers, Nine V A M, additional, MacKenzie, James, additional, Opitz, John M, additional, Sarda, Pierre, additional, Ross, Alison, additional, Temple, I Karen, additional, Toutain, Annick, additional, Wise, Carol A, additional, Wright, Michael, additional, and Jackson, Andrew P, additional
- Published
- 2011
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7. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
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Sifrim, Alejandro, Hitz, Marc-Phillip, Wilsdon, Anna, Breckpot, Jeroen, Turki, Saeed H Al, Thienpont, Bernard, McRae, Jeremy, Fitzgerald, Tomas W, Singh, Tarjinder, Swaminathan, Ganesh Jawahar, Prigmore, Elena, Rajan, Diana, Abdul-Khaliq, Hashim, Banka, Siddharth, Bauer, Ulrike M M, Bentham, Jamie, Berger, Felix, Bhattacharya, Shoumo, Bu'Lock, Frances, Canham, Natalie, Colgiu, Irina-Gabriela, Cosgrove, Catherine, Cox, Helen, Daehnert, Ingo, Daly, Allan, Danesh, John, Fryer, Alan, Gewillig, Marc, Hobson, Emma, Hoff, Kirstin, Homfray, Tessa, Kahlert, Anne-Karin, Ketley, Ami, Kramer, Hans-Heiner, Lachlan, Katherine, Lampe, Anne Katrin, Louw, Jacoba J, Manickara, Ashok Kumar, Manase, Dorin, McCarthy, Karen P, Metcalfe, Kay, Moore, Carmel, Newbury-Ecob, Ruth, Omer, Seham Osman, Ouwehand, Willem H, Park, Soo-Mi, Parker, Michael J, Pickardt, Thomas, Pollard, Martin O, Robert, Leema, Roberts, David J, Sambrook, Jennifer, Setchfield, Kerry, Stiller, Brigitte, Thornborough, Chris, Toka, Okan, Watkins, Hugh, Williams, Denise, Wright, Michael, Mital, Seema, Daubeney, Piers E F, Keavney, Bernard, Goodship, Judith, Abu-Sulaiman, Riyadh Mahdi, Klaassen, Sabine, Wright, Caroline F, Firth, Helen V, Barrett, Jeffrey C, Devriendt, Koenraad, FitzPatrick, David R, Brook, J David, and Hurles, Matthew E
- Abstract
Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (∼2.7%), suggesting a considerable role for de novo mutations (DNMs) and/or incomplete penetrance. De novo protein-truncating variants (PTVs) have been shown to be enriched among the 10% of 'syndromic' patients with extra-cardiac manifestations. We exome sequenced 1,891 probands, including both syndromic CHD (S-CHD, n = 610) and nonsyndromic CHD (NS-CHD, n = 1,281). In S-CHD, we confirmed a significant enrichment of de novo PTVs but not inherited PTVs in known CHD-associated genes, consistent with recent findings. Conversely, in NS-CHD we observed significant enrichment of PTVs inherited from unaffected parents in CHD-associated genes. We identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1. Our study finds evidence for distinct genetic architectures underlying the low sibling recurrence risk in S-CHD and NS-CHD.
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- 2016
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8. Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain
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Gibbons, Richard J., primary, Bachoo, Satvinder, additional, Picketts, David J., additional, Aftimos, Salim, additional, Asenbauer, Bernhard, additional, Bergoffen, JoAnn, additional, Berry, Susan A., additional, Dahl, Niklas, additional, Fryer, Alan, additional, Keppler, Kim, additional, Kurosawa, Kenji, additional, Levin, Michael L., additional, Masuno, Mitsuo, additional, Neri, Giovanni, additional, Pierpont, Mary Ella, additional, Slaney, Sarah F., additional, and Higgs, Douglas R., additional
- Published
- 1997
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9. Genetic linkage of cone–rod retinal dystrophy to chromosome 19q and evidence for segregation distortion
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Evans, Kevin, primary, Fryer, Alan, additional, Inglehearn, Christopher, additional, Duvall-Young, Josephine, additional, Whittaker, Joanne L., additional, Gregory, Cheryl Y., additional, Butler, Rachel, additional, Ebenezer, Neil, additional, Hunt, David M., additional, and Bhattacharya, Shomi, additional
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- 1994
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10. Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
- Author
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Jenkinson, Emma M, Rodero, Mathieu P, Kasher, Paul R, Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C, Rose, Yoann, Kershaw, Christopher J, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, O'Sullivan, James, Baerlocher, Gabriela M, Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W, Barnicoat, Angela J, Battini, Roberta, Berger, Andrea, Blair, Edward M, Brunstrom-Hernandez, Janice E, Buckard, Johannes A, Cassiman, David M, Caumes, Rosaline, Cordelli, Duccio M, De Waele, Liesbeth M, Fay, Alexander J, Ferreira, Patrick, Fletcher, Nicholas A, Fryer, Alan E, Goel, Himanshu, Hemingway, Cheryl A, Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenço, Charles M, Malpas, Timothy J, Mehta, Sarju G, Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H, Sinnathuray, Kanaga R, Soh, Calvin, Stewart, Helen S, Stone, John, Van Esch, Hilde, Van Mol, Christine E G, Vanderver, Adeline, Wakeling, Emma L, Whitney, Andrea, Pavitt, Graham D, Griffiths-Jones, Sam, Rice, Gillian I, Revy, Patrick, van der Knaap, Marjo S, Livingston, John H, O'Keefe, Raymond T, and Crow, Yanick J
- Published
- 2017
- Full Text
- View/download PDF
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