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12 results on '"Swanson, L.C."'

1. Severe speech impairment is a distinguishing feature of FOXP1-related disorder

Author

Braden, R.O., Amor, D.J., Fisher, S.E., Mei, Christina, Myers, C.T., Mefford, Heather C., Gill, D., Srivastava, S., Swanson, L.C., Goel, H., Morgen, A.T., Braden, R.O., Amor, D.J., Fisher, S.E., Mei, Christina, Myers, C.T., Mefford, Heather C., Gill, D., Srivastava, S., Swanson, L.C., Goel, H., and Morgen, A.T.

Abstract

Item does not contain fulltext

Published
2021

2. Field test examples

Author

Spane, Jr., F.A., Thorne, P.D., and Swanson, L.C.

Subjects
Hydraulics -- Research -- Analysis, Aquifers -- Analysis -- Research, Sewage -- Research -- Analysis, Earth sciences, Analysis, Research
Abstract

Introduction This paper is the second in a series of two that examine the applicability of slug interference testing within unconfined aquifers. In the first paper, the procedure for generating [...]

Published
1996

3. Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Author

Oates, E.C., Jones, K.J., Donkervoort, S., Charlton, A., Brammah, S., Smith, J.E., Ware, J.S., Yau, K.S., Swanson, L.C., Whiffin, N., Peduto, A.J., Bournazos, A., Waddell, L.B., Farrar, M.A., Sampaio, H.A., Teoh, H.L., Lamont, P.J., Mowat, D., Fitzsimons, R.B., Corbett, A.J., Ryan, M.M., O'Grady, G.L., Sandaradura, S.A., Ghaoui, R., Joshi, H., Marshall, J.L., Nolan, M.A., Kaur, S., Punetha, J., Topf, A., Harris, E., Bakshi, M., Genetti, C.A., Marttila, M., Werlauff, U., Streichenberger, N., Pestronk, A., Mazanti, I., Pinner, J.R., Vuillerot, C., Grosmann, C., Camacho, A., Mohassel, P., Leach, M.E., Foley, A.R., Bharucha-Goebel, D., Collins, J., Connolly, A.M., Gilbreath, H.R., Iannaccone, S.T., Castro, D., Cummings, B.B., Webster, R.I., Lazaro, L., Vissing, J., Coppens, S., Deconinck, N., Luk, H.M., Thomas, N.H., Foulds, N.C., Illingworth, M.A., Ellard, S., McLean, C.A., Phadke, R., Ravenscroft, G., Witting, N., Hackman, P., Richard, I., Cooper, S.T., Kamsteeg, E.J., Hoffman, E.P., Bushby, K., Straub, V., Udd, B., Ferreiro, A., North, K.N., Clarke, N.F., Lek, M., Beggs, A.H., Bonnemann, C.G., MacArthur, D.G., Granzier, H., Davis, M.R., Laing, N.G., Oates, E.C., Jones, K.J., Donkervoort, S., Charlton, A., Brammah, S., Smith, J.E., Ware, J.S., Yau, K.S., Swanson, L.C., Whiffin, N., Peduto, A.J., Bournazos, A., Waddell, L.B., Farrar, M.A., Sampaio, H.A., Teoh, H.L., Lamont, P.J., Mowat, D., Fitzsimons, R.B., Corbett, A.J., Ryan, M.M., O'Grady, G.L., Sandaradura, S.A., Ghaoui, R., Joshi, H., Marshall, J.L., Nolan, M.A., Kaur, S., Punetha, J., Topf, A., Harris, E., Bakshi, M., Genetti, C.A., Marttila, M., Werlauff, U., Streichenberger, N., Pestronk, A., Mazanti, I., Pinner, J.R., Vuillerot, C., Grosmann, C., Camacho, A., Mohassel, P., Leach, M.E., Foley, A.R., Bharucha-Goebel, D., Collins, J., Connolly, A.M., Gilbreath, H.R., Iannaccone, S.T., Castro, D., Cummings, B.B., Webster, R.I., Lazaro, L., Vissing, J., Coppens, S., Deconinck, N., Luk, H.M., Thomas, N.H., Foulds, N.C., Illingworth, M.A., Ellard, S., McLean, C.A., Phadke, R., Ravenscroft, G., Witting, N., Hackman, P., Richard, I., Cooper, S.T., Kamsteeg, E.J., Hoffman, E.P., Bushby, K., Straub, V., Udd, B., Ferreiro, A., North, K.N., Clarke, N.F., Lek, M., Beggs, A.H., Bonnemann, C.G., MacArthur, D.G., Granzier, H., Davis, M.R., and Laing, N.G.

Abstract

Contains fulltext : 196367.pdf (Publisher’s version ) (Open Access), OBJECTIVE: Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. METHODS: Using massively parallel sequencing we identified 30 patients from 27 families with 2 pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. We then undertook a detailed analysis of the clinical, histopathological and imaging features of these patients. RESULTS: All patients had prenatal or early onset hypotonia and/or congenital contractures. None had ophthalmoplegia. Scoliosis and respiratory insufficiency typically developed early and progressed rapidly, whereas limb weakness was often slowly progressive, and usually did not prevent independent walking. Cardiac involvement was present in 46% of patients. Relatives of 2 patients had dilated cardiomyopathy. Creatine kinase levels were normal to moderately elevated. Increased fiber size variation, internalized nuclei and cores were common histopathological abnormalities. Cap-like regions, whorled or ring fibers, and mitochondrial accumulations were also observed. Muscle magnetic resonance imaging showed gluteal, hamstring and calf muscle involvement. Western blot analysis showed a near-normal sized titin protein in all samples. The presence of 2 mutations predicted to impact both N2BA and N2B cardiac isoforms appeared to be associated with greatest risk of cardiac involvement. One-third of patients had 1 mutation predicted to impact exons present in fetal skeletal muscle, but not included within the mature skeletal muscle isoform transcript. This strongly suggests developmental isoforms are involved in the pathogenesis of this congenital/early onset disorder. INTERPRETATION: This detailed clinical reference dataset will greatly facilitate diagnostic confirmation and management of patients, and has provided important insights into disease pathogenesis. Ann Neurol 2018;83:1105-1124.

Published
2018

10. G.O.2: Mutations in LMOD3 cause severe nemaline myopathy by disrupting thin filament organisation in skeletal muscle

Author

UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, Kreissl, M., Sandaradura, S.A., Dowling, J.J., Kostyukova, A.S., Moroz, N., Quinlan, K.G., Lehtokari, V., Ravenscroft, G., Todd, E.J., Ceyhan-Birsoy, O., Gokhin, D.S., Maluenda, J., Lek, M., Nolent, F., Pappas, C.T., Novak, S.M., D’Amico, A., Malfatti, E., Thomas, B.P., Gabriel, S.B., Gupta, N., Daly, M.J., Ilkovski, B., Houweling, P.J., Swanson, L.C., Brownstein, C.A., Gupta, V.A., Medne, L., Shannon, P., Flisberg, A., Holmberg, E., Van den Bergh, Peter, Lapunzina, P., Waddell, L.B., Sloboda, D.D., Bertini, E., Chitayat, D., Telfer, W.R., Laquerrière, A., Gregorio, C.C., Ottenheijm, C.A.C., Bönnemann, C.G., Pelin, K., Beggs, A.H., Hayashi, Y.K., Romero, N.B., Laing, N.G., Nishino, I., Wallgren-Pettersson, C., Melki, J., Fowler, V.M., MacArthur, D.G., North, K.N., Clarke, N.F., UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, Kreissl, M., Sandaradura, S.A., Dowling, J.J., Kostyukova, A.S., Moroz, N., Quinlan, K.G., Lehtokari, V., Ravenscroft, G., Todd, E.J., Ceyhan-Birsoy, O., Gokhin, D.S., Maluenda, J., Lek, M., Nolent, F., Pappas, C.T., Novak, S.M., D’Amico, A., Malfatti, E., Thomas, B.P., Gabriel, S.B., Gupta, N., Daly, M.J., Ilkovski, B., Houweling, P.J., Swanson, L.C., Brownstein, C.A., Gupta, V.A., Medne, L., Shannon, P., Flisberg, A., Holmberg, E., Van den Bergh, Peter, Lapunzina, P., Waddell, L.B., Sloboda, D.D., Bertini, E., Chitayat, D., Telfer, W.R., Laquerrière, A., Gregorio, C.C., Ottenheijm, C.A.C., Bönnemann, C.G., Pelin, K., Beggs, A.H., Hayashi, Y.K., Romero, N.B., Laing, N.G., Nishino, I., Wallgren-Pettersson, C., Melki, J., Fowler, V.M., MacArthur, D.G., North, K.N., and Clarke, N.F.

Abstract

Nemaline myopathy (NM) is a disorder of the skeletal muscle thin filament characterised by muscle dysfunction and electron-dense protein accumulations (nemaline bodies). Pathogenic mutations have been described in nine genes to date, but the genetic basis remains unknown in many cases. We used whole exome sequencing (WES) in two families with NM and subsequent gene sequencing in over 540 additional genetically unresolved NM patients to identify and characterise a new genetic cause of NM. We developed a knock-down zebrafish model of this condition and used immunohistochemistry, western blotting, single-fibre contractility studies and recombinant protein studies to characterise the expression, localisation and biochemical functions of the new disease-related protein. We identified homozygous or compound heterozygous variants in LMOD3, which encodes leiomodin-3 (Lmod3) in 21 patients from 14 families. Affected individuals had severe generalised weakness and hypotonia, and most affected individuals died in the neonatal period. We demonstrated that Lmod3 is expressed from early muscle differentiation, localises to thin filaments with enrichment at the pointed ends, and has strong actin nucleating activity. Loss of Lmod3 in patient muscle results in shortening and disorganisation of thin filaments. Knockdown of lmod3 in the zebrafish replicates this phenotype. These findings define a new genetic subtype of congenital myopathy and demonstrate an essential, previously unrecognised role for Lmod3 in the regulation of sarcomeric thin filaments in skeletal muscle.

Published
2014

11. G.O.2

Author

Kreissl, M., primary, Sandaradura, S.A., additional, Dowling, J.J., additional, Kostyukova, A.S., additional, Moroz, N., additional, Quinlan, K.G., additional, Lehtokari, V., additional, Ravenscroft, G., additional, Todd, E.J., additional, Ceyhan-Birsoy, O., additional, Gokhin, D.S., additional, Maluenda, J., additional, Lek, M., additional, Nolent, F., additional, Pappas, C.T., additional, Novak, S.M., additional, D’Amico, A., additional, Malfatti, E., additional, Thomas, B.P., additional, Gabriel, S.B., additional, Gupta, N., additional, Daly, M.J., additional, Ilkovski, B., additional, Houweling, P.J., additional, Swanson, L.C., additional, Brownstein, C.A., additional, Gupta, V.A., additional, Medne, L., additional, Shannon, P., additional, Flisberg, A., additional, Holmberg, E., additional, den Bergh, P. Van, additional, Lapunzina, P., additional, Waddell, L.B., additional, Sloboda, D.D., additional, Bertini, E., additional, Chitayat, D., additional, Telfer, W.R., additional, Laquerrière, A., additional, Gregorio, C.C., additional, Ottenheijm, C.A.C., additional, Bönnemann, C.G., additional, Pelin, K., additional, Beggs, A.H., additional, Hayashi, Y.K., additional, Romero, N.B., additional, Laing, N.G., additional, Nishino, I., additional, Wallgren-Pettersson, C., additional, Melki, J., additional, Fowler, V.M., additional, MacArthur, D.G., additional, North, K.N., additional, and Clarke, N.F., additional

Published
2014
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12. G.O.2: Mutations in LMOD3 cause severe nemaline myopathy by disrupting thin filament organisation in skeletal muscle

Author

Kreissl, M., Sandaradura, S.A., Dowling, J.J., Kostyukova, A.S., Moroz, N., Quinlan, K.G., Lehtokari, V., Ravenscroft, G., Todd, E.J., Ceyhan-Birsoy, O., Gokhin, D.S., Maluenda, J., Lek, M., Nolent, F., Pappas, C.T., Novak, S.M., D’Amico, A., Malfatti, E., Thomas, B.P., Gabriel, S.B., Gupta, N., Daly, M.J., Ilkovski, B., Houweling, P.J., Swanson, L.C., Brownstein, C.A., Gupta, V.A., Medne, L., Shannon, P., Flisberg, A., Holmberg, E., den Bergh, P. Van, Lapunzina, P., Waddell, L.B., Sloboda, D.D., Bertini, E., Chitayat, D., Telfer, W.R., Laquerrière, A., Gregorio, C.C., Ottenheijm, C.A.C., Bönnemann, C.G., Pelin, K., Beggs, A.H., Hayashi, Y.K., Romero, N.B., Laing, N.G., Nishino, I., Wallgren-Pettersson, C., Melki, J., Fowler, V.M., MacArthur, D.G., North, K.N., and Clarke, N.F.

Published
2014
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