Research output per year
Research output per year
- 28 results
Search results
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2024
Generation of a human ACTA1-tdTomato reporter iPSC line using CRISPR/Cas9 editing
Houweling, P. J., Crossman, V., Tiong, C. F., Coles, C. A., Taylor, R. L., Clayton, J. S., Graham, A., Vlahos, K., Howden, S. E. & North, K. N., Mar 2024, In: Stem Cell Research. 75, 7 p., 103313.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus) -
Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant
Clayton, J. S., Vo, C., Crane, J., Scriba, C. K., Saker, S., Larmonier, T., Malfatti, E., Romero, N. B., Ravenscroft, G., Laing, N. G. & Taylor, R. L., Oct 2024, In: Stem Cell Research. 80, 6 p., 103491.Research output: Contribution to journal › Article › peer-review
Open Access -
Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene
Clayton, J. S., Vo, C., Crane, J., Scriba, C. K., Saker, S., Larmonier, T., Malfatti, E., Romero, N. B., Ravenscroft, G., Laing, N. G. & Taylor, R. L., Jun 2024, In: Stem Cell Research. 77, 103411.Research output: Contribution to journal › Article › peer-review
Open Access -
Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene
Clayton, J. S., Vo, C., Crane, J., Scriba, C. K., Saker, S., Larmonier, T., Malfatti, E., Romero, N. B., Ravenscroft, G., Laing, N. G. & Taylor, R. L., Jun 2024, In: Stem Cell Research. 77, 6 p., 103410.Research output: Contribution to journal › Article › peer-review
Open Access -
2023
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism
Dofash, L. N. H., Monahan, G., Servian-Morilla, E., Rivas, E., Faiz, F., Sullivan, P., Oates, E., Clayton, J., Taylor, R. L., Davis, M. R., Beilharz, T., Laing, N. G., Cabrera-Serrano, M. & Ravenscroft, G., 1 Apr 2023, In: Human Molecular Genetics. 32, 7, p. 1127-1136 10 p.Research output: Contribution to journal › Article › peer-review
6 Citations (Scopus) -
Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene
Driver, K., Vo, C., Scriba, C. K., Saker, S., Larmonier, T., Malfatti, E., Romero, N. B., Ravenscroft, G., Laing, N. G., Taylor, R. L. & Clayton, J. S., Dec 2023, In: Stem Cell Research. 73, 6 p., 103258.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus) -
2022
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
Cabrera-Serrano, M., Caccavelli, L., Savarese, M., Vihola, A., Jokela, M., Johari, M., Capiod, T., Madrange, M., Bugiardini, E., Brady, S., Quinlivan, R., Merve, A., Scalco, R., Hilton-Jones, D., Houlden, H., Aydin, H. I., Ceylaner, S., Drewes, S., Vockley, J. & Taylor, R. L. & 18 others, , 1 Nov 2022, In: Brain : a journal of neurology. 145, 11, p. 3985-3998 14 p.Research output: Contribution to journal › Article › peer-review
Open Access7 Citations (Scopus) -
Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome
Dofash, L., Haywood, J., Rivas, E., Wyllie, J., da Costa, S. T., Clayton, J., Taylor, R., Groth, D., Paradas, C., Fiorillo, C., Scala, M., Donkervoort, S., Bonnemann, C., VanNoy, G., Mangilog, B., Pais, L., Nishino, I., Laing, N., Cabrera-Serrano, M. & Ravenscroft, G., Oct 2022, In: Neuromuscular Disorders. 32, 1 p.Research output: Contribution to journal › Abstract/Meeting Abstract › peer-review
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Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene
Clayton, J. S., Suleski, I., Vo, C., Smith, R., Scriba, C. K., Saker, S., Larmonier, T., Malfatti, E., Romero, N. B., Houweling, P. J., Nowak, K. J., Ravenscroft, G., Laing, N. G. & Taylor, R. L., Aug 2022, In: Stem Cell Research. 63, 102829.Research output: Contribution to journal › Article › peer-review
Open Access -
Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene
Suleski, I. S., Smith, R., Vo, C., Scriba, C. K., Saker, S., Larmonier, T., Malfatti, E., Romero, N. B., Houweling, P. J., Nowak, K. J., Laing, N. G., Taylor, R. L. & Clayton, J. S., Aug 2022, In: Stem Cell Research. 63, 102830.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus) -
Regulatory Architecture of the RCA Gene Cluster Captures an Intragenic TAD Boundary, CTCF-Mediated Chromatin Looping and a Long-Range Intergenic Enhancer
Cheng, J., Clayton, J. S., Acemel, R. D., Zheng, Y., Taylor, R. L., Keleş, S., Franke, M., Boackle, S. A., Harley, J. B., Quail, E., Gómez-Skarmeta, J. L. & Ulgiati, D., 13 Jun 2022, In: Frontiers in Immunology. 13, p. 901747 901747.Research output: Contribution to journal › Article › peer-review
Open Access5 Citations (Scopus) -
2021
Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene
Clayton, J. S., Scriba, C. K., Romero, N. B., Malfatti, E., Saker, S., Larmonier, T., Nowak, K. J., Ravenscroft, G., Laing, N. G. & Taylor, R. L., Aug 2021, In: Stem Cell Research. 55, 102482.Research output: Contribution to journal › Article › peer-review
Open Access2 Citations (Scopus) -
Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene
Clayton, J. S., Scriba, C. K., Romero, N. B., Malfatti, E., Saker, S., Larmonier, T., Nowak, K. J., Ravenscroft, G., Laing, N. G. & Taylor, R. L., May 2021, In: Stem Cell Research. 53, 102273.Research output: Contribution to journal › Article › peer-review
Open Access5 Citations (Web of Science) -
Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel
Goullée, H., Taylor, R. L., Forrest, A. R. R., Laing, N. G., Ravenscroft, G. & Clayton, J. S., Dec 2021, In: Skeletal Muscle. 11, 1, 23.Research output: Contribution to journal › Article › peer-review
Open Access5 Citations (Scopus) -
2020
Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb
Laitila, J. M., McNamara, E. L., Wingate, C. D., Goullee, H., Ross, J. A., Taylor, R. L., van der Pijl, R., Griffiths, L. M., Harries, R., Ravenscroft, G., Clayton, J. S., Sewry, C., Lawlor, M. W., Ottenheijm, C. A. C., Bakker, A. J., Ochala, J., Laing, N. G., Wallgren-Pettersson, C., Pelin, K. & Nowak, K. J., 17 Feb 2020, In: Acta Neuropathologica Communications. 8, 1, p. 18 18.Research output: Contribution to journal › Article › peer-review
Open Access8 Citations (Scopus) -
Notch signaling induces a transcriptionally permissive state at the Complement C3d Receptor 2 (CR2) promoter in a pre-B cell model
Ng, H. L., Taylor, R. L., Cheng, J., Abraham, L. J., Quail, E., Cruickshank, M. N. & Ulgiati, D., Dec 2020, In: Molecular Immunology. 128, p. 150-164 15 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile2 Citations (Scopus)114 Downloads (Pure) -
Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy
Clayton, J. S., McNamara, E. L., Goullee, H., Conijn, S., Muthsam, K., Musk, G. C., Coote, D., Kijas, J., Testa, A. C., Taylor, R. L., O'Hara, A. J., Groth, D., Ottenheijm, C., Ravenscroft, G., Laing, N. G. & Nowak, K. J., 20 Aug 2020, In: Acta Neuropathologica Communications. 8, 1, 1 p., 142.Research output: Contribution to journal › Article › peer-review
Open Access5 Citations (Scopus) -
Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm ) ameliorates disease in a murine model of McArdle disease
McNamara, E. L., Taylor, R. L., Clayton, J. S., Goullee, H., Dilworth, K. L., Pinós, T., Brull, A., Alexander, I. E., Lisowski, L., Ravenscroft, G., Laing, N. G. & Nowak, K. J., 1 Jan 2020, In: Human Molecular Genetics. 29, 1, p. 20-30 11 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile11 Citations (Scopus)32 Downloads (Pure) -
2018
Clinical utility gene card for McArdle disease
Taylor, R. L., Davis, M., Turner, E., Brull, A., Pinos, T., Cabrera, M. & Nowak, K. J., 1 May 2018, In: European Journal of Human Genetics. 26, 5, p. 758-764 7 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Citations (Scopus) -
Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies
Nilipour, Y., Nafissi, S., Tjust, A. E., Ravenscroft, G., Hossein Nejad Nedai, H., Taylor, R. L., Varasteh, V., Pedrosa Domellöf, F., Zangi, M., Tonekaboni, S. H., Olivé, M., Kiiski, K., Sagath, L., Davis, M. R., Laing, N. G. & Tajsharghi, H., 1 Jun 2018, In: European Journal of Neurology. 25, 6, p. 841-847 7 p.Research output: Contribution to journal › Article › peer-review
34 Citations (Scopus) -
2017
Gene Expression Networks in the Murine Pulmonary Myocardium Provide Insight into the Pathobiology of Atrial Fibrillation
Boutilier, J. K., Taylor, R. L., Mann, T., McNamara, E., Hoffman, G. J., Kenny, J., Dilley, R. J., Henry, P., Morahan, G., Laing, N. G. & Nowak, K. J., 1 Sept 2017, In: G3: Genes, Genomes, Genetics. 7, 9, p. 2999-3017 19 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile8 Citations (Scopus)347 Downloads (Pure) -
Variable cardiac α-actin (Actc1) expression in early adult skeletal muscle correlates with promoter methylation
Boutilier, J. K., Taylor, R. L., Ram, R., McNamara, E., Nguyen, Q., Goullée, H., Chandler, D., Mehta, M., Balmer, L., Laing, N. G., Morahan, G. & Nowak, K. J., Oct 2017, In: Biochimica et Biophysica Acta: international journal of biochemistry and biophysics. 1860, 10, p. 1025-1036 12 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile19 Citations (Scopus)133 Downloads (Pure) -
2016
Focused transcription from the human CR2/CD21 core promoter is regulated by synergistic activity of TATA and Initiator elements in mature B cells
Taylor, R., Cruickshank, M., Karimi, M., Ng, H., Quail, E., Kaufman, K. M., Harley, J. B., Abraham, L., Tsao, B. P., Boackle, S. A. & Ulgiati, D., 1 Jan 2016, In: CELLULAR & MOLECULAR IMMUNOLOGY. 13, 1, p. 119-131 13 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Citations (Scopus) -
2015
Analysis of tandem E-box motifs within human Complement receptor 2 (CR2/CD21) promoter reveals cell specific roles for RP58, E2A, USF and localized chromatin accessibility
Cruickshank, M., Dods, J., Taylor, R., Karimi, M., Fenwick, E., Quail, E., Rea, A., Holers, V. M., Abraham, L. & Ulgiati, D., Jul 2015, In: International Journal of Biochemistry and Cell Biology. 64, p. 107-119 13 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile4 Citations (Scopus)610 Downloads (Pure) -
Transcriptional control of Complement Receptor 2: significance to B cell biology and autoimmunity
Taylor, R., 2015, (Unpublished)Research output: Thesis › Doctoral Thesis
File530 Downloads (Pure) -
2014
Preferential association of a functional variant in complement receptor 2 with antibodies to double-stranded DNA
Zhao, J., Giles, B. M., Taylor, R., Yette, G. A., Lough, K. M., Ng, H. L., Abraham, L. J., Wu, H., Kelly, J. A., Glenn, S. B., Adler, A. J., Williams, A. H., Comeau, M. E., Ziegler, J. T., Marion, M., Alarcón-Riquelme, M. E., Alarcón, G. S., Anaya, J. M., Bae, S. C. & Kim, D. & 94 others, , 2014, In: Annals of the Rheumatic Diseases. 75, 1, p. 242-252 11 p.Research output: Contribution to journal › Article › peer-review
Open Access8 Citations (Scopus) -
2013
An Intronic CR2 Polymorphism Associated With Systemic Lupus Erythematosus Alters CTCF Binding and CR1 Expression
Zhao, J., Giles, B. M., Mason, R., Yette, G. A., Lough, K. M., Abraham, L., Wu, H., Gaffney, P. M., Kelly, J. A., Kaufman, K. M., Harley, J. B., Langefeld, C. D., Brown, E. E., Edberg, J. C., Kimberly, R. P., Ulgiati, D., Tsao, P. & Boackle, S. A., 2013, 77th Annual Meeting of the American-College-of-Rheumatology / 48th Annual Meeting of the Association-of-Rheumatology-Health-Professionals. United States: Blackwell, Vol. 65. p. S1155-S1155Research output: Chapter in Book/Conference paper › Conference paper
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2012
Transcriptional effects of a lupus-associated polymorphism in the 5' untranslated region (UTR) of human complement receptor 2 (CR2/CD21)
Cruickshank, M., Karimi, M., Mason, R., Fenwick, E., Mercer, T., Tsao, B. P., Boackle, S. A. & Ulgiati, D., 2012, In: Molecular Immunology. 52, p. 165-173Research output: Contribution to journal › Article › peer-review
13 Citations (Scopus)