SCNM1, a Putative RNA Splicing Factor That Modifies Disease Severity in Mice

Initial sequencing and analysis of the human genome

International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216 · see citing works

Efficient selection for high-expression transfectants with a novel eukaryotic vector

Niwa, H., Yamamura, K., & Miyazaki, J. (1991) · Gene · doi:10.1016/0378-1119(91)90434-d · Cited by 5,135 · see citing works

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team* (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.242603899 · Cited by 1,742 · see citing works

ESEfinder: a web resource to identify exonic splicing enhancers

Cartegni, L. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg616 · Cited by 1,593 · see citing works

Pre-mRNA splicing and human diseasePreprint

Faustino, N. A., & Cooper, T. A. (2003) · Genes & Development · doi:10.1101/gad.1048803 · Cited by 1,256 · see citing works

Genealogies of mouse inbred strains

Beck, J. A., Lloyd, S. E., Hafezparast, M., Lennon-Pierce, M., Eppig, J. T., Festing, M. F. W., & Fisher, E. (2000) · Nature Genetics · doi:10.1038/71641 · Cited by 825 · see citing works

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1

Cartegni, L., & Krainer, A. R. (2002) · Nature Genetics · doi:10.1038/ng854 · Cited by 730 · see citing works

Sodium channel Na _v 1.6 is localized at nodes of Ranvier, dendrites, and synapses

Caldwell, J. H., Schaller, K. L., Lasher, R. S., Peles, E., & Levinson, S. R. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.090034797 · Cited by 649 · see citing works

Insertional mutagenesis in zebrafish rapidly identifies genes essential for early vertebrate development

Golling, G., Amsterdam, A., Sun, Z., Antonelli, M., Maldonado, E., Chen, W., Burgess, S. M., Haldi, M., Artzt, K., Farrington, S. M., et al. (2002) · Nature Genetics · doi:10.1038/ng896 · Cited by 544 · see citing works

Genomewide Analysis of mRNA Processing in Yeast Using Splicing-Specific Microarrays

Clark, T. A., Sugnet, C. W., & Ares, M. (2002) · Science · doi:10.1126/science.1069415 · Cited by 411 · see citing works

Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’

Burgess, D. L., Kohrman, D. C., Galt, J., Plummer, N. W., Jones, J. M., Spear, B. T., & Meisler, M. H. (1995) · Nature Genetics · doi:10.1038/ng0895-461 · Cited by 307 · see citing works

Splicing regulation as a potential genetic modifier

Nissim‐Rafinia, M., & Kerem, B. (2002) · Trends in Genetics · doi:10.1016/s0168-9525(01)02619-1 · Cited by 224 · see citing works

Delineating developmental and metabolic pathways in vivo by expression profiling using the RIKEN set of 18,816 full-length enriched mouse cDNA arrays

Miki, R., Kadota, K., Bono, H. U., Mizuno, Y., Tomaru, Y., Carninci, P., Itoh, M., Shibata, K., Kawai, J., Konno, H., et al. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.041605498 · Cited by 200 · see citing works

The U1 snRNP protein U1C recognizes the 5′ splice site in the absence of base pairing

Du, H., & Rosbash, M. (2002) · Nature · doi:10.1038/nature00947 · Cited by 169 · see citing works

Nuclear targeting of proteins

Christophe, D., Christophe-Hobertus, C., & Pichon, B. (2000) · Cellular Signalling · doi:10.1016/s0898-6568(00)00077-2 · Cited by 165 · see citing works

WW domain-mediated interactions reveal a spliceosome-associated protein that binds a third class of proline-rich motif: The proline glycine and methionine-rich motif

Bedford, M. T., Reed, R., & Leder, P. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.18.10602 · Cited by 161 · see citing works

Mutation Detection in the and Alleles of the Sodium Channel

Kohrman, D. C., Harris, J. B., & Meisler, M. H. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.29.17576 · Cited by 140 · see citing works

Confirmation of Quantitative Trait Loci for Alcohol Preference in Mice

Tarantino, L. M., McClearn, G. E., Rodriguez, L. A., & Plomin, R. J. (1998) · Alcoholism Clinical and Experimental Research · doi:10.1111/j.1530-0277.1998.tb03707.x · Cited by 125 · see citing works

Modifier genes and protective alleles in humans and mice

Nadeau, J. H. (2003) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(03)00061-3 · Cited by 115 · see citing works

The Inborn Factors in Disease

Garrod, A. E. (1931) · Southern Medical Journal · doi:10.1097/00007611-193106000-00028 · Cited by 111 · see citing works

Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Nav1.6)

Kearney, J. A. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.22.2765 · Cited by 104 · see citing works

Defects in Pre-mRNA Processing as Causes of and Predisposition to Diseases

Stoilov, P., Meshorer, E., Gencheva, M., Glick, D., Soreq, H., & Stamm, S. (2002) · DNA and Cell Biology · doi:10.1089/104454902320908450 · Cited by 80 · see citing works

Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3

Sprunger, L. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.3.471 · Cited by 72 · see citing works

Sodium Channels and Neurological Disease: Insights from Scn8a Mutations in the Mouse

Meisler, M. H., Kearney, J., Escayg, A., Macdonald, B. T., & Sprunger, L. K. (2001) · The Neuroscientist · doi:10.1177/107385840100700208 · Cited by 68 · see citing works

The Inborn Factors in Disease: An Essay.

(1931) · JAMA · doi:10.1001/jama.1931.02730160056043 · Cited by 58 · see citing works

Domains in Human Splicing Factors SF3a60 and SF3a66 Required for Binding to SF3a120, Assembly of the 17S U2 snRNP, and Prespliceosome Formation

Nešić, D., & Krämer, A. (2001) · Molecular and Cellular Biology · doi:10.1128/mcb.21.19.6406-6417.2001 · Cited by 55 · see citing works

Genetic modifiers in human development and malformation syndromes, including chaperone proteins

Slavotinek, A. M. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg099 · Cited by 52 · see citing works

Vestibular Dysfunction in the Epistatic circler Mouse Is Caused by Phenotypic Interaction of One Recessive Gene and Three Modifier GenesPreprint

Cryns, K., Spaendonck, M. P. V., Flothmann, K., van Alphen, A. M., de Heyning, P. V., Timmermans, J., Zeeuw, C. I. D., & Camp, G. V. (2002) · Genome Research · doi:10.1101/gr.218402 · Cited by 12 · see citing works

The effects of interferon-beta treatment of synovial inflammation and expression of metalloproteinases in patients with rheumatoid arthritis

Gravellese (2000) · Pure Amsterdam UMC · doi:10.1002/1529-0131(200002)43:2 · Cited by 2 · see citing works

Splicing in disease: disruption of the splicing code and the decoding machinery

Wang, G., & Cooper, T. A. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2164 · Cited by 1,040 · see citing works

Intermediate Filaments: Molecular Structure, Assembly Mechanism, and Integration Into Functionally Distinct Intracellular Scaffolds

Herrmann, H. O., & Aebi, U. (2004) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.73.011303.073823 · Cited by 693 · see citing works

Genomic variants in exons and introns: identifying the splicing spoilers

Pagani, F., & Baralle, F. E. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1327 · Cited by 601 · see citing works

Alternative splicing in disease and therapy

Garcia-Blanco, M. A., Baraniak, A. P., & Lasda, E. L. (2004) · Nature Biotechnology · doi:10.1038/nbt964 · Cited by 527 · see citing works

Sodium channel mutations in epilepsy and other neurological disorders

Meisler, M. H. (2005) · Journal of Clinical Investigation · doi:10.1172/jci25466 · Cited by 512 · see citing works

Polarized Domains of Myelinated Axons

Salzer, J. L. (2003) · Neuron · doi:10.1016/s0896-6273(03)00628-7 · Cited by 399 · see citing works

Voltage‐gated sodium channels and pain pathways

Wood, J. N., Boorman, J. P., Okuse, K., & Baker, M. D. (2004) · Journal of Neurobiology · doi:10.1002/neu.20094 · Cited by 377 · see citing works

MATS: a Bayesian framework for flexible detection of differential alternative splicing from RNA-Seq data

Shen, S., Park, J. W., Huang, J., Dittmar, K. A., Lu, Z., Zhou, Q., Carstens, R. P., & Xing, Y. (2012) · Nucleic Acids Research · doi:10.1093/nar/gkr1291 · Cited by 362 · see citing works

The neurogenetics of alternative splicing

Vuong, C. K., Black, D. L., & Zheng, S. (2016) · Nature Reviews Neuroscience · doi:10.1038/nrn.2016.27 · Cited by 340 · see citing works

Genetics of congenital adrenal hyperplasia

Krone, N., & Arlt, W. (2009) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2008.10.014 · Cited by 312 · see citing works

A Genetically Encoded Infrared Probe

Schultz, K. C., Supeková, Ľ., Ryu, Y., Xie, J., Perera, R., & Schultz, P. G. (2006) · Journal of the American Chemical Society · doi:10.1021/ja0636690 · Cited by 265 · see citing works

Use of minigene systems to dissect alternative splicing elements

Cooper, T. A. (2005) · Methods · doi:10.1016/j.ymeth.2005.07.015 · Cited by 248 · see citing works

Sodium channelopathies in neurodevelopmental disorders

Meisler, M. H., Hill, S. F., & Yu, W. (2021) · Nature reviews. Neuroscience · doi:10.1038/s41583-020-00418-4 · Cited by 202 · see citing works

The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy

Martin, M. S., Tang, B., Papale, L. A., Yu, F. H., Catterall, W. A., & Escayg, A. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm248 · Cited by 202 · see citing works

Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability

O’Brien, J. E., & Meisler, M. H. (2013) · Frontiers in Genetics · doi:10.3389/fgene.2013.00213 · Cited by 158 · see citing works

A Phage Display System with Unnatural Amino Acids

Tian, F., Tsao, M., & Schultz, P. G. (2004) · Journal of the American Chemical Society · doi:10.1021/ja045673m · Cited by 155 · see citing works

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin

Slaugenhaupt, S. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddh046 · Cited by 153 · see citing works

Neuronal proteins custom designed by alternative splicing

Lipscombe, D. (2005) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2005.04.002 · Cited by 145 · see citing works

Site-Specific Incorporation of a Redox-Active Amino Acid into Proteins

Alfonta, L., Zhang, Z., Uryu, S. A., Loo, J. A., & Schultz, P. G. (2003) · Journal of the American Chemical Society · doi:10.1021/ja038242x · Cited by 141 · see citing works

Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Wilson, R. C., Nimkarn, S., Dumić, M., Obeid, J. S., Azar, M. R., Najmabadi, H., Saffari, F., & New, M. I. (2007) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2006.12.005 · Cited by 140 · see citing works

Determinants of the inherent strength of human 5′ splice sites

Roca, X., Sachidanandam, R., & Krainer, A. R. (2005) · RNA · doi:10.1261/rna.2040605 · Cited by 129 · see citing works

Recognition and elimination of nonsense mRNA

Mühlemann, O., EBERLE, A., Stalder, L., & Orozco, R. Z. (2008) · Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms · doi:10.1016/j.bbagrm.2008.06.012 · Cited by 127 · see citing works

Splicing for alternative structures of Ca1.2 Ca channels in cardiac and smooth muscles

Liao, P. H., Yong, T. A., Liang, M. C., Yue, D. N., & Soong, T. W. (2005) · Cardiovascular Research · doi:10.1016/j.cardiores.2005.06.024 · Cited by 124 · see citing works

Hypomorphic expression ofDkk1in thedoubleridgemouse: dose dependence and compensatory interactions withLrp6

MacDonald, B. T., Adamska, M., & Meisler, M. H. (2004) · Development · doi:10.1242/dev.01126 · Cited by 121 · see citing works

Pathogenic Mechanism of the FIG4 Mutation Responsible for Charcot-Marie-Tooth Disease CMT4J

Lenk, G. M., Ferguson, C., Chow, C. Y., Jin, N., Jones, J. M., Grant, A. E., Zolov, S. N., Winters, J. J., Giger, R. J., Dowling, J. J., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002104 · Cited by 109 · see citing works

Nova2 Interacts with a Cis-Acting Polymorphism to Influence the Proportions of Drug-Responsive Splice Variants of SCN1A

Heinzen, E. L., Yoon, W., Tate, S. K., Sen, A., Wood, N. W., Sisodiya, S. M., & Goldstein, D. B. (2007) · The American Journal of Human Genetics · doi:10.1086/516650 · Cited by 109 · see citing works

mRNA processing in mutant zebrafish lines generated by chemical and CRISPR-mediated mutagenesis produces unexpected transcripts that escape nonsense-mediated decay

Anderson, J. L., Mulligan, T. S., Shen, M., Wang, H., Scahill, C. M., Tan, F. J., Du, S., Busch‐Nentwich, E. M., & Farber, S. A. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1007105 · Cited by 106 · see citing works

Developments in RNA Splicing and Disease

Poulos, M. G., Batra, R., Charizanis, K., & Swanson, M. S. (2011) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a000778 · Cited by 98 · see citing works

Genetics of Congenital Adrenal Hyperplasia

Hannah-Shmouni, F., Chen, W., & Merke, D. P. (2017) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2017.01.008 · Cited by 97 · see citing works

Increased Neuronal Excitability, Synaptic Plasticity, and Learning in Aged Kvβ1.1 Knockout Mice

Murphy, G. G., Fedorov, N. B., Giese, K.-P., Ohno, M., Friedman, E. L., Chen, R., & Silva, A. J. (2004) · Current Biology · doi:10.1016/j.cub.2004.10.021 · Cited by 94 · see citing works

Genotype–phenotype correlations in hereditary familial retinoblastoma

Taylor, M., Dehainault, C., Desjardins, L., Doz, F., Lévy, C., Sastre‐Garau, X., Couturier, J., Stoppa‐Lyonnet, D., Houdayer, C., & Gauthier‐Villars, M. (2006) · Human Mutation · doi:10.1002/humu.20443 · Cited by 91 · see citing works

Structure of the activated human minor spliceosome

Bai, R., Wan, R., Wang, L., Xu, K., Zhang, Q. C., Lei, J., & Shi, Y. (2021) · Science · doi:10.1126/science.abg0879 · Cited by 90 · see citing works

LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome

Fukuchi, K., Katsuya, T., Sugimoto, K., Kuremura, M., Kim, H. D., Li, L., & Ogihara, T. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.014688 · Cited by 82 · see citing works

The impact of alternative splicing in vivo: Mouse models show the way

Möröy, T., & Heyd, F. (2007) · RNA · doi:10.1261/rna.554607 · Cited by 79 · see citing works

Exon Silencing by UAGG Motifs in Response to Neuronal Excitation

An, P., & Grabowski, P. J. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050036 · Cited by 79 · see citing works

The splicing machinery is a genetic modifier of disease severity

Nissim‐Rafinia, M., & Kerem, B. (2005) · Trends in Genetics · doi:10.1016/j.tig.2005.07.005 · Cited by 79 · see citing works

Modifier genes and the plasticity of genetic networks in mice

Hamilton, B. A., & Yu, B. D. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002644 · Cited by 78 · see citing works

Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation

Nissim‐Rafinia, M., Aviram, M., Randell, S. H., Shushi, L., Ozeri, E., Chiba‐Falek, O., Eidelman, O., Pollard, H. B., Yankaskas, J. R., & Kerem, B. (2004) · EMBO Reports · doi:10.1038/sj.embor.7400273 · Cited by 70 · see citing works

FGF8 dose-dependent regulation of embryonic submandibular salivary gland morphogenesis

Jaskoll, T. F., Witcher, D., Toreno, L., Bringas, P., Moon, A., & Melnick, M. (2004) · Developmental Biology · doi:10.1016/j.ydbio.2004.01.004 · Cited by 70 · see citing works

Urogenital and caudal dysgenesis in adrenocortical dysplasia ( acd ) mice is caused by a splicing mutation in a novel telomeric regulator

Keegan, C. E., Hutz, J. E., Else, T., Adamska, M., Shah, S. P., Kent, A. E., Howes, J. M., Beamer, W. G., & Hammer, G. D. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi011 · Cited by 68 · see citing works

Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions

Meisler, M. H., Plummer, N. W., Burgess, D. L., Buchner, D. A., & Sprunger, L. K. (2004) · Genetica · doi:10.1007/s10709-004-1441-9 · Cited by 67 · see citing works

Induced dystrophin exon skipping in human muscle explants

McClorey, G., Fall, A., Moulton, H. M., Iversen, P. L., Rasko, J. E. J., Ryan, M. M., Fletcher, S., & Wilton, S. D. (2006) · Neuromuscular Disorders · doi:10.1016/j.nmd.2006.05.017 · Cited by 66 · see citing works

Complex Seizure Disorder Caused by Brunol4 Deficiency in Mice

Yang, Y. X., Mahaffey, C. L., Bérubé, N. G., Maddatu, T. P., Cox, G. A., & Frankel, W. N. (2007) · PLoS Genetics · doi:10.1371/journal.pgen.0030124 · Cited by 62 · see citing works

Plant Cyclophilins: Multifaceted Proteins With Versatile Roles

Singh, H., Kaur, K., Singh, M., Kaur, G., & Singh, P. (2020) · Frontiers in Plant Science · doi:10.3389/fpls.2020.585212 · Cited by 61 · see citing works

Contrasting genetic architectures in different mouse reference populations used for studying complex traitsPreprint

Buchner, D. A., & Nadeau, J. H. (2015) · Genome Research · doi:10.1101/gr.187450.114 · Cited by 60 · see citing works

Design of a Bacterial Host for Site-Specific Incorporation of p-Bromophenylalanine into Recombinant Proteins

Kwon, I., Wang, P., & Tirrell, D. A. (2006) · Journal of the American Chemical Society · doi:10.1021/ja0626281 · Cited by 59 · see citing works

Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase‐associated neurodegeneration

Kuo, Y., Hayflick, S. J., & Gitschier, J. M. (2007) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-007-0560-8 · Cited by 59 · see citing works

Epileptogenic ion channel mutations: From bedside to bench and, hopefully, back again

Mantegazza, M., Rusconi, R., Scalmani, P., AVANZINI, G., & Franceschetti, S. (2010) · Epilepsy Research · doi:10.1016/j.eplepsyres.2010.08.003 · Cited by 57 · see citing works

Evolution of alternative splicing in primate brain transcriptomes

Lin, L., Shen, S., Jiang, P., Sato, S., Davidson, B. L., & Xing, Y. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq201 · Cited by 52 · see citing works

Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A

O'Brien, J. E., Drews, V. L., Jones, J. M., Dugas, J. C., Barres, B. A., & Meisler, M. H. (2012) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2011.10.005 · Cited by 49 · see citing works

Bringing genetic background into focus

Chow, C. Y. (2015) · Nature Reviews Genetics · doi:10.1038/nrg.2015.9 · Cited by 48 · see citing works

The Genetic Incorporation of a Distance Probe into Proteins in Escherichia coli

Tsao, M., Summerer, D., Ryu, Y., & Schultz, P. G. (2006) · Journal of the American Chemical Society · doi:10.1021/ja058262u · Cited by 48 · see citing works

Genome-wide survey of allele-specific splicing in humans

Nembaware, V., Lupindo, B., Schouest, K. R., Spillane, C., Scheffler, K., & Seoighe, C. (2008) · BMC Genomics · doi:10.1186/1471-2164-9-265 · Cited by 47 · see citing works

A Novel Mutation of COL2A1 Resulting in Dominantly Inherited Rhegmatogenous Retinal Detachment

Richards, A. J., Meredith, S. P., Poulson, A. V., Bearcroft, P. W. P., Crossland, G., Baguley, D., Scott, J. D., & Snead, M. P. (2005) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.04-1017 · Cited by 46 · see citing works

The genetics of health

Nadeau, J. H., & Topol, E. J. (2006) · Nature Genetics · doi:10.1038/ng1006-1095 · Cited by 46 · see citing works

Theataxia3Mutation in the N-Terminal Cytoplasmic Domain of Sodium Channel Nav1.6 Disrupts Intracellular Trafficking

Sharkey, L. M., Cheng, X., Drews, V. L., Buchner, D. A., Jones, J. M., Justice, M. J., Waxman, S. G., Dib‐Hajj, S. D., & Meisler, M. H. (2009) · Journal of Neuroscience · doi:10.1523/jneurosci.6026-08.2009 · Cited by 44 · see citing works

Genetic modifiers of neurological disease

Kearney, J. A. (2011) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2010.12.007 · Cited by 43 · see citing works

Aberrant splicing in neurological diseases

Feng, D., & Xie, J. (2013) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1184 · Cited by 43 · see citing works

Evidence for a direct role of the disease modifier SCNM1 in splicing

Howell, V. M., Jones, J. M., Bergren, S. K., Li, L., Billi, A. C., Avenarius, M. R., & Meisler, M. H. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm206 · Cited by 41 · see citing works

The Primary Arrhythmia Syndromes: Same Mutation, Different Manifestations. Are We Starting to Understand Why?

Scicluna, B. P., Wilde, A. A. M., & Bezzina, C. R. (2008) · Journal of Cardiovascular Electrophysiology · doi:10.1111/j.1540-8167.2007.01073.x · Cited by 40 · see citing works

Mouse Models of PI(3,5)P2 Deficiency with Impaired Lysosome Function

Lenk, G. M., & Meisler, M. H. (2013) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/b978-0-12-397926-1.00014-7 · Cited by 40 · see citing works

Voltage‐gated sodium channels: Action players with many faces

Koopmann, T. T., Bezzina, C. R., & Wilde, A. A. M. (2006) · Annals of Medicine · doi:10.1080/07853890600969072 · Cited by 40 · see citing works

Fine mapping of an epilepsy modifier gene on mouse Chromosome 19

Bergren, S. K., Rutter, E. D., & Kearney, J. A. (2009) · Mammalian Genome · doi:10.1007/s00335-009-9193-6 · Cited by 38 · see citing works

G lycine receptor mouse mutants: model systems for human hyperekplexia

Schaefer, N., Langlhofer, G., Kluck, C. J., & Villmann, C. (2013) · British Journal of Pharmacology · doi:10.1111/bph.12335 · Cited by 37 · see citing works

A spinal muscular atrophy modifier implicates the SMN protein in SNARE complex assembly at neuromuscular synapses

Kim, J.-K., Jha, N. N., Awano, T., Caine, C., Gollapalli, K., Welby, E., Kim, S.-S., Fuentes, A., Wang, X., Feng, Z., et al. (2023) · Neuron · doi:10.1016/j.neuron.2023.02.004 · Cited by 37 · see citing works

Cerebellar ataxia and functional genomics: Identifying the routes to cerebellar neurodegeneration

Smeets, C. J. L. M., & Verbeek, D. S. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2014.04.004 · Cited by 34 · see citing works

Structural Characterization of a p-Acetylphenylalanyl Aminoacyl-tRNA Synthetase

Turner, J. M., Graziano, J. J., Spraggon, G., & Schultz, P. G. (2005) · Journal of the American Chemical Society · doi:10.1021/ja0549042 · Cited by 34 · see citing works

An update on transcriptional and post-translational regulation of brain voltage-gated sodium channels

Onwuli, D. O., & Beltrán-Álvarez, P. (2015) · Amino Acids · doi:10.1007/s00726-015-2122-y · Cited by 33 · see citing works

Human voltage-gated Na + and K + channel properties underlie sustained fast AP signaling

Wilbers, R., Metodieva, V. D., Duverdin, S., Heyer, D. B., Galakhova, A. A., Mertens, E. J., Versluis, T. D., Baayen, J. C., Idema, S., Noske, D. P., et al. (2023) · Science Advances · doi:10.1126/sciadv.ade3300 · Cited by 32 · see citing works

Multiple transcripts of sodium channel SCN8A (NaV1.6) with alternative 5′- and 3′-untranslated regions and initial characterization of the SCN8A promoter

Drews, V. L., Lieberman, A. P., & Meisler, M. H. (2004) · Genomics · doi:10.1016/j.ygeno.2004.09.002 · Cited by 31 · see citing works

Escaping from CRISPR–Cas-mediated knockout: the facts, mechanisms, and applications

Wang, Y., Zhai, Y., Zhang, M., Song, C., Zhang, Y., & Zhang, G. (2024) · Cellular & Molecular Biology Letters · doi:10.1186/s11658-024-00565-x · Cited by 26 · see citing works

Enhanced VWF biosynthesis and elevated plasma VWF due to a natural variant in the murine Vwf gene

Lemmerhirt, H. L., Shavit, J. A., Levy, G. G., Cole, S., Long, J. C., & Ginsburg, D. (2006) · Blood · doi:10.1182/blood-2006-04-014688 · Cited by 26 · see citing works

Decreased locomotor activity in mice expressing tTA under control of the CaMKIIα promoter

McKinney, B. C., Schneider, J. S., Schafer, G. L., Lowing, J. L., Mohan, S., Zhao, M., Heng, M. Y., Albin, R. L., Seasholtz, A. F., Akil, H., et al. (2007) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2007.00339.x · Cited by 25 · see citing works

Nonsense-associated alternative splicing of T-cell receptor β genes: No evidence for frame dependence

Mohn, F., Bühler, M., & Mühlemann, O. (2004) · RNA · doi:10.1261/rna.7182905 · Cited by 25 · see citing works

Alternative splicing induced by nonsense mutations in the immunoglobulin μ VDJ exon is independent of truncation of the open reading frame

Bühler, M., & Mühlemann, O. (2004) · RNA · doi:10.1261/rna.7183805 · Cited by 25 · see citing works

Modifiers of von Willebrand factor identified by natural variation in inbred strains of mice

Shavit, J. A., Manichaikul, A. W., Lemmerhirt, H. L., Broman, K. W., & Ginsburg, D. (2009) · Blood · doi:10.1182/blood-2009-07-233213 · Cited by 24 · see citing works

Asymmetric Synthesis and Translational Competence of l -α-(1-Cyclobutenyl)glycine

Jayathilaka, L. P., Deb, M., & Standaert, R. F. (2004) · Organic Letters · doi:10.1021/ol049026b · Cited by 24 · see citing works

Three ENU-induced neurological mutations in the pore loopof sodium channel Scn8a (Na v 1.6) and a genetically linkedretinal mutation, rd13

Buchner, D. A., Seburn, K. L., Frankel, W. N., & Meisler, M. H. (2004) · Mammalian Genome · doi:10.1007/s00335-004-2332-1 · Cited by 24 · see citing works

Ion Channels in Analgesia Research

Wood, J. N. (2007) · Springer eBooks · doi:10.1007/978-3-540-33823-9_12 · Cited by 23 · see citing works

Deletions within a CA-repeat-rich region of intron 4 of the human SP-B gene affect mRNA splicing

Lin, Z., Thomas, N. J., Wang, Y., Guo, X., Seifart, C., Shakoor, H., & Floros, J. (2005) · Biochemical Journal · doi:10.1042/bj20042032 · Cited by 22 · see citing works

A survey of splice variants of the human hypoxanthine phosphoribosyl transferase and DNA polymerase beta genes: products of alternative or aberrant splicing?

Skandalis, A. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh967 · Cited by 21 · see citing works

Genetic Modification of the Schisis Phenotype in a Mouse Model of X-Linked Retinoschisis

Johnson, B. A., Aoyama, N., Friedell, N. H., Ikeda, S., & Ikeda, A. (2008) · Genetics · doi:10.1534/genetics.107.084905 · Cited by 21 · see citing works

Common pathological mutations inPQBP1induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon

Musante, L., Kunde, S., Sulistio, T. O., Fischer, U., Grimme, A., Frints, S. G. M., Schwartz, C. E., Martínez, F., Romano, C., Ropers, H., et al. (2009) · Human Mutation · doi:10.1002/humu.21146 · Cited by 21 · see citing works

Genetic modifiers in mice: the example of the fragile X mouse model

Errijgers, V., & Kooy, R. F. (2004) · Cytogenetic and Genome Research · doi:10.1159/000078218 · Cited by 19 · see citing works

Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing via motif disruption

Abrahams, L., Savisaar, R., Mordstein, C., Young, B., Kudla, G. R., & Hurst, L. D. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkab750 · Cited by 18 · see citing works

Identification of evolutionarily conserved, functional noncoding elements in the promoter region of the sodium channel gene SCN8A

Drews, V. L., Shi, K., de Haan, G., & Meisler, M. H. (2007) · Mammalian Genome · doi:10.1007/s00335-007-9059-8 · Cited by 18 · see citing works

Reduced Nav1.6 sodium channel activity in mice increases in vivo sensitivity to volatile anesthetics

Pal, D., Jones, J. M., Wisidagamage, S., Meisler, M. H., & Mashour, G. A. (2015) · PLOS ONE · doi:10.1371/journal.pone.0134960 · Cited by 17 · see citing works

Integrative Analysis of Nanopore and Illumina Sequencing Reveals Alternative Splicing Complexity in Pig Longissimus Dorsi Muscle

Shu, Z., Wang, L., Wang, J., Zhang, L., Hou, X., Yan, H., & Wang, L. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.877646 · Cited by 15 · see citing works

Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia

Iturrate, A., Rivera‐Barahona, A., Flores, C., Otaify, G. A., Elhossini, R. M., Pérez-Sanz, M. L., Nevado, J. B., Tenorio, J. A., Triviño, J. C., García-Gonzalo, F. R., et al. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.08.009 · Cited by 15 · see citing works

Modifier genes and non-genetic factors reshape anatomical deficits in Zfp423-deficient mice

Alcaraz, W. A., Chen, E., Valdes, P., Kim, E., Lo, Y. H., Vo, J. A., & Hamilton, B. A. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr300 · Cited by 15 · see citing works

Relationship between Charge-Transfer Interactions, Redox Potentials, and Catalysis for Different Forms of the Flavoprotein Component ofp-Cresol Methylhydroxylase

Efimov, I., & McIntire, W. S. (2004) · Journal of the American Chemical Society · doi:10.1021/ja047409z · Cited by 15 · see citing works

Serine–arginine-rich nuclear protein Luc7l regulates myogenesis in mice

Kimura, E., Hidaka, K., Kida, Y., Morisaki, H., Shirai, M., Araki, K., Suzuki, M., Yamamura, K.-I., & Morisaki, T. (2004) · Gene · doi:10.1016/j.gene.2004.07.035 · Cited by 15 · see citing works

Antisense oligonucleotide development for the selective modulation of CYP3A5 in renal disease

Lidberg, K. A., Annalora, A. J., Jozic, M., Elson, D. J., Wang, L., Bammler, T. K., Ramm, S., Monteiro, M. B., Himmelfarb, J., Marcus, C. B., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-84194-w · Cited by 14 · see citing works

Mouse Genetic Background Influences the Dental Phenotype

Li, Y., Konicki, W. S., Wright, J. T., Suggs, C., Xue, H. Y., Kuehl, M. A., Kulkarni, A. B., & Gibson, C. W. (2013) · Cells Tissues Organs · doi:10.1159/000360157 · Cited by 14 · see citing works

Mouse Forward Genetics in the Study of the Peripheral Nervous System and Human Peripheral Neuropathy

Douglas, D. S., & Popko, B. (2008) · Neurochemical Research · doi:10.1007/s11064-008-9719-4 · Cited by 14 · see citing works

Mouse Models of Dystonia

Hess, E. J., & Jinnah, H. A. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-405195-9.00027-5 · Cited by 14 · see citing works

Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHD

Lan, T., Jin, W., Chen, K., Zhang, J., Chen, X., & Yao, H. J. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2024.1472516 · Cited by 12 · see citing works

Connecting genotype and phenotype in minor spliceosome diseases

Norppa, A. J., Shcherbii, M., & Frilander, M. J. (2025) · RNA · doi:10.1261/rna.080337.124 · Cited by 11 · see citing works

Splicing Modulation as a Modifier of the CFTR Function

Nissim‐Rafinia, M., & Kerem, B. (2006) · Progress in molecular and subcellular biology · doi:10.1007/978-3-540-34449-0_10 · Cited by 11 · see citing works

Comparisons of behavior and synaptic plasticity among three C57BL/6 substrains

Kang, M., Ryu, H.-H., & Lee, Y. (2015) · Animal Cells and Systems · doi:10.1080/19768354.2015.1023830 · Cited by 10 · see citing works

Scnm1 modifies the severity of a neurological disease by an effect on sodium channel splicing.

Buchner, D. A. (2003) · Deep Blue (University of Michigan)

Evidence for a direct role of the disease modifier SCNM1 in splicing

Howell, V. M., Jones, J. M., Bergren, S. K., Li, L., Billi, A. C., Avenarius, M. R., & Meisler, M. H. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm206 · Cited by 41 · see citing works

A Targeted Deleterious Allele of the Splicing Factor SCNM1 in the Mouse

Howell, V. M., de Haan, G., Bergren, S., Jones, J. M., Culiat, C. T., Michaud, E. J., Frankel, W. N., & Meisler, M. H. (2008) · Genetics · doi:10.1534/genetics.108.094227 · Cited by 8 · see citing works

Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Nav1.6)

Kearney, J. A. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.22.2765 · Cited by 104 · see citing works

Mutation Detection in the and Alleles of the Sodium Channel

Kohrman, D. C., Harris, J. B., & Meisler, M. H. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.29.17576 · Cited by 140 · see citing works