Zacytuj

Helbig, I. and Abou Tayoun, A. N. (2016) ‘Understanding Genotypes and Phenotypes in Epileptic Encephalopathies’, Molecular Syndromology, 7(4), pp. 172–181. HelbigI. Abou TayounA. N. 2016 ‘Understanding Genotypes and Phenotypes in Epileptic Encephalopathies’ Molecular Syndromology 7 4 172 181 Search in Google Scholar

Light, T. P., Gomez-Soler, M., Wang, Z., Karl, K., Zapata-Mercado, E., Gehring, M. P., Lechtenberg, B. C., Pogorelov, T. V., Hristova, K. and Pasquale, E. B. (2021) ‘A cancer mutation promotes EphA4 oligomerization and signaling by altering the conformation of the SAM domain’, Journal of Biological Chemistry, 297(1), p. 100876. LightT. P. Gomez-SolerM. WangZ. KarlK. Zapata-MercadoE. GehringM. P. LechtenbergB. C. PogorelovT. V. HristovaK. PasqualeE. B. 2021 ‘A cancer mutation promotes EphA4 oligomerization and signaling by altering the conformation of the SAM domain’ Journal of Biological Chemistry 297 1 100876 Search in Google Scholar

National Center for Biotechnology Information. Clin-Var (no date) [VCV000431727.1]. National Center for Biotechnology Information Clin-Var (no date) [VCV000431727.1]. Search in Google Scholar

Van Hoecke, A., Schoonaert, L., Lemmens, R., Timmers, M., Staats, K. A., Laird, A. S., Peeters, E., Philips, T., Goris, A., Dubois, B., et al. (2012) ‘EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans’, Nature Medicine, 18(9), pp. 1418–1422. Van HoeckeA. SchoonaertL. LemmensR. TimmersM. StaatsK. A. LairdA. S. PeetersE. PhilipsT. GorisA. DuboisB. 2012 ‘EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans’ Nature Medicine 18 9 1418 1422 Search in Google Scholar

Fu, A. K. Y., Hung, K.-W., Huang, H., Gu, S., Shen, Y., Cheng, E. Y. L., Ip, F. C. F., Huang, X., Fu, W.-Y. and Ip, N. Y. (2014) ‘Blockade of EphA4 signaling ameliorates hippocampal synaptic dysfunctions in mouse models of Alzheimer’s disease’, Proceedings of the National Academy of Sciences, 111(27), pp. 9959–9964. FuA. K. Y. HungK.-W. HuangH. GuS. ShenY. ChengE. Y. L. IpF. C. F. HuangX. FuW.-Y. IpN. Y. 2014 ‘Blockade of EphA4 signaling ameliorates hippocampal synaptic dysfunctions in mouse models of Alzheimer’s disease’ Proceedings of the National Academy of Sciences 111 27 9959 9964 Search in Google Scholar

Goldshmit, Y. and Bourne, J. (2010) ‘Upregulation of EphA4 on Astrocytes Potentially Mediates Astrocytic Gliosis after Cortical Lesion in the Marmoset Monkey’, Journal of Neurotrauma, 27(7), pp. 1321–1332. GoldshmitY. BourneJ. 2010 ‘Upregulation of EphA4 on Astrocytes Potentially Mediates Astrocytic Gliosis after Cortical Lesion in the Marmoset Monkey’ Journal of Neurotrauma 27 7 1321 1332 Search in Google Scholar

Miller, S. A., Dykes, D. D. and Polesky, H. F. (1988) ‘A simple salting out procedure for extracting DNA from human nucleated cells’, Nucleic Acids Research, 16(3), pp. 1215–1215. MillerS. A. DykesD. D. PoleskyH. F. 1988 ‘A simple salting out procedure for extracting DNA from human nucleated cells’ Nucleic Acids Research 16 3 1215 1215 Search in Google Scholar

Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) ‘Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology’, Genetics in Medicine, 17(5), pp. 405–424. RichardsS. AzizN. BaleS. BickD. DasS. Gastier-FosterJ. GrodyW. W. HegdeM. LyonE. SpectorE. 2015 ‘Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology’ Genetics in Medicine 17 5 405 424 Search in Google Scholar

Wiel, L., Baakman, C., Gilissen, D., Veltman, J. A., Vriend, G. and Gilissen, C. (2019) ‘MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains’, Human Mutation, p. humu.23798. WielL. BaakmanC. GilissenD. VeltmanJ. A. VriendG. GilissenC. 2019 ‘MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains’ Human Mutation humu.23798 Search in Google Scholar

Paysan-Lafosse, T., Blum, M., Chuguransky, S., Grego, T., Pinto, B. L., Salazar, G. A., Bileschi, M. L., Bork, P., Bridge, A., Colwell, L., et al. (2023) ‘InterPro in 2022’, Nucleic Acids Research, 51(D1), pp. D418–D427. Paysan-LafosseT. BlumM. ChuguranskyS. GregoT. PintoB. L. SalazarG. A. BileschiM. L. BorkP. BridgeA. ColwellL. 2023 ‘InterPro in 2022’ Nucleic Acids Research 51 D1 D418 D427 Search in Google Scholar

Fuller, Z. L., Berg, J. J., Mostafavi, H., Sella, G. and Przeworski, M. (2019) ‘Measuring intolerance to mutation in human genetics’, Nature Genetics, 51(5), pp. 772–776. FullerZ. L. BergJ. J. MostafaviH. SellaG. PrzeworskiM. 2019 ‘Measuring intolerance to mutation in human genetics’ Nature Genetics 51 5 772 776 Search in Google Scholar

Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2020) ‘The mutational constraint spectrum quantified from variation in 141,456 humans’, Nature, 581(7809), pp. 434–443. KarczewskiK. J. FrancioliL. C. TiaoG. CummingsB. B. AlföldiJ. WangQ. CollinsR. L. LaricchiaK. M. GannaA. BirnbaumD. P. 2020 ‘The mutational constraint spectrum quantified from variation in 141,456 humans’ Nature 581 7809 434 443 Search in Google Scholar

Nagy, E. and Maquat, L. E. (1998) ‘A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance’, Trends in Biochemical Sciences, 23(6), pp. 198–199. NagyE. MaquatL. E. 1998 ‘A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance’ Trends in Biochemical Sciences 23 6 198 199 Search in Google Scholar

Arvanitis, D. N. and Davy, A. (2012) ‘Regulation and misregulation of Eph/ephrin expression’, Cell Adhesion & Migration, 6(2), pp. 131–137. ArvanitisD. N. DavyA. 2012 ‘Regulation and misregulation of Eph/ephrin expression’ Cell Adhesion & Migration 6 2 131 137 Search in Google Scholar

Sobreira, N., Schiettecatte, F., Valle, D. and Hamosh, A. (2015) ‘GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene’, Human Mutation, 36(10), pp. 928–930. SobreiraN. SchiettecatteF. ValleD. HamoshA. 2015 ‘GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene’ Human Mutation 36 10 928 930 Search in Google Scholar

Oliver, K. L., Scheffer, I. E., Bennett, M. F., Grinton, B. E., Bahlo, M. and Berkovic, S. F. (2023) ‘Genes4Epilepsy: An epilepsy gene resource’, Epilepsia, 64(5), pp. 1368–1375. OliverK. L. SchefferI. E. BennettM. F. GrintonB. E. BahloM. BerkovicS. F. 2023 ‘Genes4Epilepsy: An epilepsy gene resource’ Epilepsia 64 5 1368 1375 Search in Google Scholar

eISSN:
1311-0160
Język:
Angielski
Częstotliwość wydawania:
2 razy w roku
Dziedziny czasopisma:
Medicine, Basic Medical Science, other