- 23 results
Search results
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2025
Deep mutational scanning of the human insulin receptor ectodomain to inform precision therapy for insulin resistance
Aslanzadeh, V., Brierley, G. V., Kumar, R., Çubuk, H., Vigouroux, C., Matreyek, K. A., Kudla, G. & Semple, R. K., 15 Oct 2025, In: Nature Communications. 16, 9143.Research output: Contribution to journal › Article › peer-review
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2024
Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy
McKay, E. J., Luijten, I., Broadway-Stringer, S., Thomson, A., Weng, X., Gehmlich, K., Gray, G. A. & Semple, R. K., 28 Jun 2024, In: DMM Disease Models and Mechanisms. 17, 6, dmm050561.Research output: Contribution to journal › Article › peer-review
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Mesenchymal-specific Alms1 knockout in mice recapitulates metabolic features of Alström syndrome
McKay, E. J., Luijten, I., Weng, X., Martinez de Morentin, P. B., De Frutos González, E., Gao, Z., Kolonin, M. G., Heisler, L. K. & Semple, R. K., Jun 2024, In: Molecular Metabolism. 84, 101933.Research output: Contribution to journal › Article › peer-review
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2023
Resolution of dysglycaemia after treatment of monoclonal gammopathy of endocrine significance
Grant, B., Ratnayake, G., Williams, C. L., Long, A., Halsall, D. J., Semple, R. K., Cavenagh, J. D., Drake, W. M. & Church, D. S., 11 Oct 2023, In: European Journal of Endocrinology. 189, 6, p. K25-K29Research output: Contribution to journal › Article › peer-review
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Allogeneic stem cell transplantation for type B insulin resistance
Ebert, T., Behre, G., Weidhase, L., Vucinic, V., Gewert, C., Semple, R. K., Stumvoll, M. & Tönjes, A., 29 Aug 2023, In: Frontiers in Medicine.Research output: Contribution to journal › Article › peer-review
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Diagnosis and treatment of anti‐insulin antibody‐mediated labile glycaemia in insulin‐treated diabetes
Church, D. S., Barker, P., Burling, K. A., Shinwari, S. K., Kennedy, C., Smith, D., Macfarlane, D. P., Kernohan, A., Stears, A., Karamat, M. A., Whyte, K., Narendran, P., Halsall, D. J. & Semple, R. K., 10 Aug 2023, (E-pub ahead of print) In: Diabetic Medicine.Research output: Contribution to journal › Article › peer-review
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The serotonin transporter sustains human brown adipose tissue thermogenesis
Suchacki, K. J., Ramage, L. E., Choong Kwok, T., Kelman, A., McNeill, B. T., Rodney, S., Keegan, M., Gray, C., MacNaught, G., Patel, D., Fletcher, A. M., Simpson, J. P., N Carter, R., Semple, R. K., Homer, N. Z. M., Morton, N. M., van Beek, E. J. R., Wakelin, S. J. & Stimson, R. H., 3 Aug 2023, In: Nature Metabolism. 5, p. 1319-1336Research output: Contribution to journal › Article › peer-review
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A mouse model of human mitofusin 2-related lipodystrophy exhibits adipose-specific mitochondrial stress and reduced leptin secretion
Mann, J. P., Duan, X., Patel, S., Tábara, L. C., Scurria, F., Alvarez-Guaita, A., Haider, A., Luijten, I., Page, M., Protasoni, M., Lim, K., Virtue, S., O'Rahilly, S., Armstrong, M., Prudent, J., Semple, R. K. & Savage, D. B., 1 Feb 2023, (E-pub ahead of print) In: eLIFE. 12Research output: Contribution to journal › Article › peer-review
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p53 regulates mitochondrial dynamics in vascular smooth muscle cell calcification.
Phadwal, K., Tang, Q., Luijten, I., Zhao, J.-F., Corcoran, B., Semple, R. K., Ganley, I. G. & MacRae, V., 13 Jan 2023, In: International Journal of Molecular Sciences. 24, 2, 1643.Research output: Contribution to journal › Article › peer-review
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2022
Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome
Atallah, I., McCormick, D., Good, J.-M., Barigou, M., Fraga, M., Sempoux, C., Superti-Furga, A., Semple, R. K. & Tran, C., 19 Jun 2022, (E-pub ahead of print) In: Journal of clinical lipidology.Research output: Contribution to journal › Article › peer-review
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A distinctive requirement for p53 in the genome protective Topoisomerase 2a-dependent G2 arrest in hTERT positive cancer cells
Lockwood, N., Martini, S., López-Pardo, A., Deiss, K., Segeren, H. A., Semple, R. K., Collins, I., Repana, D., Cobbaut, M., Soliman, T. N., Ciccarelli, F. & Parker, P. J., 1 Mar 2022, In: Cancer Research.Research output: Contribution to journal › Article › peer-review
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Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps
Mericq, V., Huang-Doran, I., Al-naqeb, D., Basaure, J., Castiglioni, C., De Bruin, C., Hendriks, Y., Bertini, E., Alkuraya, F. S., Losekoot, M., Al-rubeaan, K., Semple, R. K. & Wit, J. M., 1 Mar 2022, In: European Journal of Endocrinology.Research output: Contribution to journal › Article › peer-review
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2021
Identification of rare loss of function genetic variation regulating body fat distribution
Koprulua, M., Zhaoa, Y., Wheeler, E., Liang, D., Rocha, N., Li, C., Griffin, J. D., Patel, S., Van de Streek, M., Glastonbury, C. A., Stewart, I., Day, F. R., Luan, J., Bowker, N., Wittemans, L. B. L., Kerrison, N. D., Cai, L., Lucarelli, D. M. E., Barroso, I. & McCarthy, M. I. & 10 others, , 7 Dec 2021, In: The Journal of Clinical Endocrinology & Metabolism (JCEM).Research output: Contribution to journal › Article › peer-review
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Positive correlation between transcriptomic stemness and PI3K/AKT/mTOR signaling scores in breast cancer, and a counterintuitive relationship with PIK3CA genotype
Madsen, R. R., Erickson, E. C., Rueda, O. M., Robin, X., Caldas, C., Toker, A., Semple, R. K. & Vanhaesebroeck, B., 11 Nov 2021, In: PLoS Genetics.Research output: Contribution to journal › Article › peer-review
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Genome-wide Analysis Identifies Novel Gallstone-susceptibility Loci Including Genes Regulating Gastrointestinal Motility
Fairfield, C., Drake, T., Pius, R., Bretherick, A. D., Campbell, A., Clark, D., Fallowfield, J. A., Hayward, C., Henderson, N. C., Iakovliev, A., Joshi, P. K., Mills, N. L., Porteous, D. J., Ramachandran, P., Semple, R. K., Shaw, K., Sudlow, C. L. M., Timmers, P., Wilson, J. F. & Wigmore, S. J. & 2 others, , 15 Oct 2021, (E-pub ahead of print) In: Hepatology. p. 1-33 33 p.Research output: Contribution to journal › Article › peer-review
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A standard of care for individuals with PIK3CA ‐related disorders: an international expert consensus statement
Douzgou, S., Rawson, M., Baselga, E., Danielpour, M., Faivre, L., Kashanian, A., Keppler‐noreuil, K. M., Kuentz, P., Mancini, G. M. S., Maniere, M., Martinez‐glez, V., Parker, V. E., Semple, R. K., Srivastava, S., Vabres, P., Wit, M. Y., Graham, J. M., Clayton‐smith, J., Mirzaa, G. M. & Biesecker, L. G., 8 Jul 2021, (E-pub ahead of print) In: Clinical genetics.Research output: Contribution to journal › Article › peer-review
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2020
Truncation of Pik3r1 causes severe insulin resistance uncoupled from obesity and dyslipidemia by increased energy expenditure
Kwok, A., Zvetkova, I., Virtue, S., Luijten, I., Huang-doran, I., Tomlinson, P., Bulger, D. A., West, J., Murfitt, S., Griffin, J., Alam, R., Hart, D., Knox, R., Voshol, P., Vidal-puig, A., Jensen, J., O’rahilly, S. & Semple, R. K., 19 May 2020, In: Molecular Metabolism. p. 101020Research output: Contribution to journal › Article › peer-review
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Human pluripotent stem cell-based models suggest preadipocyte senescence as a possible cause of metabolic complications of Werner and Bloom Syndromes
Goh, K. J., Chen, J.-H., Rocha, N. & Semple, R. K., 4 May 2020, In: Scientific Reports. 10, 1, 7490.Research output: Contribution to journal › Article › peer-review
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2019
Oncogenic PIK3CA promotes cellular stemness in an allele dose-dependent manner
Madsen, R. R., Knox, R. G., Pearce, W., Lopez, S., Mahler-Araujo, B., McGranahan, N., Vanhaesebroeck, B. & Semple, R. K., 23 Apr 2019, In: Proceedings of the National Academy of Sciences (PNAS). 116, 17, p. 8380-8389Research output: Contribution to journal › Article › peer-review
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Luminescent peptide tagging enables efficient screening for CRISPR-mediated knock-in in human induced pluripotent stem cells
Madsen, R. R. & Semple, R. K., 20 Feb 2019, In: Wellcome Open Research . 4, p. 37Research output: Contribution to journal › Article › peer-review
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2018
DNA Polymerase epsilon deficiency causes IMAGe Syndrome with variable immunodeficiency
Logan, C., Murray, J., Parry, D., Robertson, A., Bellelli, R., Tarnauskaite, Z., Challis, R., Cleal, L., Borel, V., Fluteau, A., Santoyo-Lopez, J., SGP Consortium, Aitman, T., Barroso, I., Basel, D., Bicknell, L., Goel, H., Hu, H., Huff, C. & Hutchison, M. & 26 others, , 6 Dec 2018, In: American Journal of Human Genetics. 103, 6, p. 1038-1044Research output: Contribution to journal › Article › peer-review
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Safety and efficacy of low-dose sirolimus in the PIK3CA-Related Overgrowth Spectrum
Parker, V. E. R., Keppler-Noreuil, K. M., Faivre, L., Luu, M., Oden, N. L., De Silva, L., Sapp, J. C., Andrews, K., Bardou, M., Chen, K. Y., Darling, T., Gautier, E., Goldspiel, B. R., Hadj-Rabia, S., Harris, J., Kounidas, G., Kumar, P., Lindhurst, M. J., Loffroy, R. & Martin, L. & 12 others, , 1 Oct 2018, (E-pub ahead of print) In: Genetics in Medicine.Research output: Contribution to journal › Article › peer-review
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Combined immunosuppressive therapy induces remission in patients with severe type B insulin resistance – a prospective cohort study
Klubo-Gwiezdzinska, J., Lange, M., Cochran, E., Semple, R., Gewert, C., Brown, R. J. & Gorden, P., 10 Sept 2018, In: Diabetes Care.Research output: Contribution to journal › Article › peer-review
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