Search Results - "Fry, Andrew E"

SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation by Zaman, Tariq, Helbig, Katherine L., Clatot, Jérôme, Thompson, Christopher H., Kang, Seok Kyu, Stouffs, Katrien, Jansen, Anna E., Verstraete, Lieve, Jacquinet, Adeline, Parrini, Elena, Guerrini, Renzo, Fujiwara, Yuh, Miyatake, Satoko, Ben‐Zeev, Bruria, Bassan, Haim, Reish, Orit, Marom, Daphna, Hauser, Natalie, Vu, Thuy‐Anh, Ackermann, Sally, Spencer, Careni E., Lippa, Natalie, Srinivasan, Shraddha, Charzewska, Agnieszka, Hoffman‐Zacharska, Dorota, Fitzpatrick, David, Harrison, Victoria, Vasudevan, Pradeep, Joss, Shelagh, Pilz, Daniela T., Fawcett, Katherine A., Helbig, Ingo, Matsumoto, Naomichi, Kearney, Jennifer A., Fry, Andrew E., Goldberg, Ethan M.

“…Objective Pathogenic variants in SCN3A, encoding the voltage‐gated sodium channel subunit Nav1.3, cause severe childhood onset epilepsy and malformation of…”
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The genetics of lissencephaly by Fry, Andrew E., Cushion, Thomas D., Pilz, Daniela T.

“…Lissencephaly is a spectrum of severe brain malformations caused by the failure of migrating neurons to reach optimal positions in the developing cerebral…”
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Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine by Faundes, Víctor, Jennings, Martin D., Crilly, Siobhan, Legraie, Sarah, Withers, Sarah E., Cuvertino, Sara, Davies, Sally J., Douglas, Andrew G. L., Fry, Andrew E., Harrison, Victoria, Amiel, Jeanne, Lehalle, Daphné, Newman, William G., Newkirk, Patricia, Ranells, Judith, Splitt, Miranda, Cross, Laura A., Saunders, Carol J., Sullivan, Bonnie R., Granadillo, Jorge L., Gordon, Christopher T., Kasher, Paul R., Pavitt, Graham D., Banka, Siddharth

“…The structure of proline prevents it from adopting an optimal position for rapid protein synthesis. Poly-proline-tract (PPT) associated ribosomal stalling is…”
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International consensus recommendations on the diagnostic work-up for malformations of cortical development by Oegema, Renske, Barakat, Tahsin Stefan, Wilke, Martina, Stouffs, Katrien, Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio, Fry, Andrew E., Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana, Said, Edith, Soler, Doriette, Valor, Luis M., Zaki, Maha S., Mirzaa, Ghayda, Dobyns, William B., Reiner, Orly, Guerrini, Renzo, Pilz, Daniela T., Hehr, Ute, Leventer, Richard J., Jansen, Anna C., Mancini, Grazia M. S., Di Donato, Nataliya

“…Malformations of cortical development (MCDs) are neurodevelopmental disorders that result from abnormal development of the cerebral cortex in utero. MCDs place…”
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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A by CUSHION, Thomas D, DOBYNS, William B, UYANIK, Gokhan, RANKIN, Julia, REES, Mark I, PILZ, Daniela T, MULLINS, Jonathan G. L, STOODLEY, Neil, CHUNG, Seo-Kyung, FRY, Andrew E, HEHR, Ute, GUNNY, Roxana, AYLSWORTH, Arthur S, PRABHAKAR, Prab

“…Polymicrogyria and lissencephaly are causally heterogeneous disorders of cortical brain development, with distinct neuropathological and neuroimaging patterns…”
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Allelic heterogeneity of G6PD deficiency in West Africa and severe malaria susceptibility by CLARK, Taane G, FRY, Andrew E, JALLOW, Muminatou, SISAY-JOOF, Fatou, PINDER, Margaret, SABETI, Pardis, KWIATKOWSKI, Dominic P, ROCKETT, Kirk A, AUBURN, Sarah, CAMPINO, Susana, DIAKITE, Mahamadou, GREEN, Angela, RICHARDSON, Anna, TEO, Yik Y, SMALL, Kerrin, WILSON, Jonathan

“…Several lines of evidence link glucose-6-phosphate dehydrogenase (G6PD) deficiency to protection from severe malaria. Early reports suggested most G6PD…”
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Genome-wide comparisons of variation in linkage disequilibrium by Teo, Yik Y, Fry, Andrew E, Bhattacharya, Kanishka, Small, Kerrin S, Kwiatkowski, Dominic P, Clark, Taane G

“…Current genome-wide surveys of common diseases and complex traits fundamentally aim to detect indirect associations where the single nucleotide polymorphisms…”
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Tumor necrosis factor and lymphotoxin-α polymorphisms and severe malaria in African populations by Clark, Taane G., Diakite, Mahamadou, Auburn, Sarah, Campino, Susana, Fry, Andrew E., Green, Angela, Richardson, Anna, Small, Kerrin, Teo, Yik Y., Wilson, Jonathan, Jallow, Muminatou, Sisay-Joof, Fatou, Pinder, Margaret, Griffiths, Michael, Peshu, Norbert, Williams, Thomas N., Marsh, Kevin, Molyneux, Malcolm E., Taylor, Terrie E., Kirk A., Rockett, Kwiatkoski, Dominic P.

“…The tumor necrosis factor gene (TNF) and lymphotoxin-α gene (LTA) have long attracted attention as candidate genes for susceptibility traits for malaria, and…”
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Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation by Gardner, Jennifer F, Cushion, Thomas D, Niotakis, Georgios, Olson, Heather E, Grant, P Ellen, Scott, Richard H, Stoodley, Neil, Cohen, Julie S, Naidu, Sakkubai, Attie-Bitach, Tania, Bonnières, Maryse, Boutaud, Lucile, Encha-Razavi, Férechté, Palmer-Smith, Sheila M, Mugalaasi, Hood, Mullins, Jonathan G L, Pilz, Daniela T, Fry, Andrew E

“…The gene encodes tubulin alpha-1A, a protein that is highly expressed in the fetal brain. Alpha- and beta-tubulin subunits form dimers, which then co-assemble…”
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Epilepsy genetics: a practical guide for adult neurologists by Pickrell, William Owen, Fry, Andrew E

“…An understanding of epilepsy genetics is important for adult neurologists, as making a genetic diagnosis gives clinical benefit. In this review, we describe…”
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Congenital glaucoma in Wagner syndrome by Jewsbury, Hugh, BM, FRCOphth, Fry, Andrew E., MBChB, DPhil, Watts, Patrick, MBBS, FRCOphth, Nas, Veronique, Morgan, James, MBBCh, FRCOphth

“…Wagner syndrome is a rare inherited vitreoretinopathy. We describe 3 related patients with Wagner syndrome who presented with congenital glaucoma at age 3…”
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On the Usage of HWE for Identifying Genotyping Errors by Teo, Yik Y., Fry, Andrew E., Clark, Taane G., Tai, E. S., Seielstad, Mark

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Power consequences of linkage disequilibrium variation between populations by Teo, Yik Y., Small, Kerrin S., Fry, Andrew E., Wu, Yumeng, Kwiatkowski, Dominic P., Clark, Taane G.

“…We quantify the degree to which LD differences exist in the human genome and investigates the consequences that variations in patterns of LD between…”
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The Phenotypic Continuum of ATP1A3 -Related Disorders by Vezyroglou, Aikaterini, Akilapa, Rhoda, Barwick, Katy, Koene, Saskia, Brownstein, Catherine A., Holder-Espinasse, Muriel, Fry, Andrew E., Németh, Andrea H., Tofaris, George K., Hay, Eleanor, Hughes, Imelda, Mansour, Sahar, Mordekar, Santosh R., Splitt, Miranda, Turnpenny, Peter D., Demetriou, Demetria, Koopmann, Tamara T., Ruivenkamp, Claudia A.L., Agrawal, Pankaj B., Carr, Lucinda, Clowes, Virginia, Ghali, Neeti, Holder, Susan Elizabeth, Radley, Jessica, Male, Alison, Sisodiya, Sanjay M., Kurian, Manju A., Cross, J. Helen, Balasubramanian, Meena

“…is associated with a broad spectrum of predominantly neurologic disorders, which continues to expand beyond the initially defined phenotypes of alternating…”
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Further evidence supporting a role for gs signal transduction in severe malaria pathogenesis by Auburn, Sarah, Fry, Andrew E, Clark, Taane G, Campino, Susana, Diakite, Mahamadou, Green, Angela, Richardson, Anna, Jallow, Muminatou, Sisay-Joof, Fatou, Pinder, Margaret, Molyneux, Malcolm E, Taylor, Terrie E, Haldar, Kasturi, Rockett, Kirk A, Kwiatkowski, Dominic P

“…With the functional demonstration of a role in erythrocyte invasion by Plasmodium falciparum parasites, implications in the aetiology of common conditions that…”
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PSMC5 insufficiency and P320R mutation impair proteasome function by Yu, Zhong-Qiu, Carmichael, Jenny, Collins, Galen A, D'Agostino, Maria Daniela, Lessard, Mathieu, Firth, Helen V, Harijan, Pooja, Fry, Andrew E, Dean, John, Zhang, Jiuchun, Kini, Usha, Goldberg, Alfred L, Rubinsztein, David C

“…Abstract The ubiquitin-proteasome system mediates the degradation of a wide variety of proteins. Proteasome dysfunction is associated with neurodegenerative…”
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Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome by Kloeckener-Gruissem, Barbara, Neidhardt, John, Magyar, István, Plauchu, Henri, Zech, Jean-Christophe, Morlé, Laurette, Palmer-Smith, Sheila M, MacDonald, Moira J, Nas, Véronique, Fry, Andrew E, Berger, Wolfgang

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Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy by Fry, Andrew E., Marra, Christopher, Derrick, Anna V., Pickrell, William O., Higgins, Adam T., te Water Naude, Johann, McClatchey, Martin A., Davies, Sally J., Metcalfe, Kay A., Tan, Hui Jeen, Mohanraj, Rajiv, Avula, Shivaram, Williams, Denise, Brady, Lauren I., Mesterman, Ronit, Tarnopolsky, Mark A., Zhang, Yuehua, Yang, Ying, Wang, Xiaodong, Rees, Mark I., Goldfarb, Mitchell, Chung, Seo-Kyung

“…Fibroblast growth factor homologous factors (FHFs) are intracellular proteins which regulate voltage-gated sodium (Nav) channels in the brain and other…”
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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria by Fry, Andrew E, Fawcett, Katherine A, Zelnik, Nathanel, Yuan, Hongjie, Thompson, Belinda A N, Shemer-Meiri, Lilach, Cushion, Thomas D, Mugalaasi, Hood, Sims, David, Stoodley, Neil, Chung, Seo-Kyung, Rees, Mark I, Patel, Chirag V, Brueton, Louise A, Layet, Valérie, Giuliano, Fabienne, Kerr, Michael P, Banne, Ehud, Meiner, Vardiella, Lerman-Sagie, Tally, Helbig, Katherine L, Kofman, Laura H, Knight, Kristin M, Chen, Wenjuan, Kannan, Varun, Hu, Chun, Kusumoto, Hirofumi, Zhang, Jin, Swanger, Sharon A, Shaulsky, Gil H, Mirzaa, Ghayda M, Muir, Alison M, Mefford, Heather C, Dobyns, William B, Mackenzie, Amanda B, Mullins, Jonathan G L, Lemke, Johannes R, Bahi-Buisson, Nadia, Traynelis, Stephen F, Iago, Heledd F, Pilz, Daniela T

“…NMDA receptor agonists have been used for many years to generate animal models of polymicrogyria, a malformation of cortical development. Fry et al. identify…”
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Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 by Faundes, Víctor, Goh, Stephanie, Akilapa, Rhoda, Bezuidenhout, Heidre, Bjornsson, Hans T., Bradley, Lisa, Brady, Angela F., Brischoux-Boucher, Elise, Brunner, Han, Bulk, Saskia, Canham, Natalie, Cody, Declan, Dentici, Maria Lisa, Digilio, Maria Cristina, Elmslie, Frances, Fry, Andrew E., Gill, Harinder, Hurst, Jane, Johnson, Diana, Julia, Sophie, Lachlan, Katherine, Lebel, Robert Roger, Byler, Melissa, Gershon, Eric, Lemire, Edmond, Gnazzo, Maria, Lepri, Francesca Romana, Marchese, Antonia, McEntagart, Meriel, McGaughran, Julie, Mizuno, Seiji, Okamoto, Nobuhiko, Rieubland, Claudine, Rodgers, Jonathan, Sasaki, Erina, Scalais, Emmanuel, Scurr, Ingrid, Suri, Mohnish, van der Burgt, Ineke, Matsumoto, Naomichi, Miyake, Noriko, Benoit, Valérie, Lederer, Damien, Banka, Siddharth

“…The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood. Genetic and clinical details of new and published…”
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