Research output per year
Research output per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Education/Academic qualification
Musculoskeletal Biology (medicine), PhD, Phenotyping of a new conditional mouse model of alkaptonuria and investigation of nitisinone-induced tyrosinaemia, University of Liverpool
1 Nov 2016 → 23 Nov 2020
Award Date: 23 Nov 2020
Master's of Biological Science, University of Liverpool
Sep 2015 → Jun 2016
Anatomy and Human Biology, BSc, University of Liverpool
Sep 2012 → Jun 2015
Other positions
Honorary Research Associate, University of Liverpool
1 Jan 2021 → …
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Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria.
Hughes, J., Liu, K., Plagge, A., Wilson, P., Sutherland, H., Norman, B., Hughes, A., Keenan, C., Milan, A., Sakai, T., Ranganath, L., Gallagher, J. A. & Bou-Gharios, G., 1 Dec 2019, In: Human Molecular Genetics. 28, 23, p. 3928 3939 p.Research output: Contribution to journal › Article (journal) › peer-review
Open AccessFile9 Citations (Scopus)1 Downloads (Pure) -
Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria
Hughes, J. H., Wilson, P. J. M., Sutherland, H., Judd, S., Hughes, A. T., Milan, A. M., Jarvis, J. C., Bou‐Gharios, G., Ranganath, L. R. & Gallagher, J. A., 13 Mar 2020, In: Journal of Inherited Metabolic Disease. 43, 2, p. 259-268Research output: Contribution to journal › Article (journal) › peer-review
Open AccessFile17 Citations (Scopus)13 Downloads (Pure) -
Anatomical Distribution of Ochronotic Pigment in Alkaptonuric Mice is Associated with Calcified Cartilage Chondrocytes at Osteochondral Interfaces
Hughes, J. H., Keenan, C. M., Sutherland, H., Edwards, H. R., Wilson, P. J. M., Ranganath, L. R., Jarvis, J. C., Bou-Gharios, G. & Gallagher, J. A., 1 Feb 2021, In: Calcified Tissue International. 108, 2, p. 207-218 12 p.Research output: Contribution to journal › Article (journal) › peer-review
Open AccessFile4 Downloads (Pure) -
Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism
Norman, B. P., Davison, A. S., Hughes, J. H., Sutherland, H., Wilson, P. JM., Berry, N. G., Hughes, A. T., Milan, A. M., Jarvis, J. C., Roberts, N. B., Ranganath, L. R., Bou-Gharios, G. & Gallagher, J. A., 22 Feb 2021, (E-pub ahead of print) In: Genes and Diseases.Research output: Contribution to journal › Article (journal) › peer-review
Open AccessFile5 Citations (Scopus)24 Downloads (Pure) -
Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial
Ranganath, L. R., Psarelli, E. E., Arnoux, J. B., Braconi, D., Briggs, M., Bröijersén, A., Loftus, N., Bygott, H., Cox, T. F., Davison, A. S., Dillon, J. P., Fisher, M., FitzGerald, R., Genovese, F., Glasova, H., Hall, A. K., Hughes, A. T., Hughes, J. H., Imrich, R., Jarvis, J. C., & 29 others, 1 Sep 2020, In: The Lancet Diabetes and Endocrinology. 8, 9, p. 762-772 11 p.Research output: Contribution to journal › Article (journal) › peer-review
Open AccessFile53 Citations (Scopus)41 Downloads (Pure)
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Anatomical dissection of an alkaptonuria cadaver
JULIETTE HUGHES (Speaker)
8 Jan 2021Activity: Talk or presentation types › Oral presentation
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Anatomical Society (External organisation)
JULIETTE HUGHES (Member)
19 Nov 2019 → …Activity: Membership types › Membership of network
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Distribution of ochronotic pigment in the connective tissues of an alkaptonuria cadaver.
JULIETTE HUGHES (Speaker)
7 Sep 2021Activity: Talk or presentation types › Oral presentation
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AIMS Molecular Science (Journal)
JULIETTE HUGHES (Reviewer)
18 Jan 2021Activity: Publication peer-review and editorial work types › Editorial work
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British Society of Matrix Biology (External organisation)
JULIETTE HUGHES (Member)
30 Aug 2021Activity: Membership types › Membership of network
Prizes
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Best oral presentation at Rare Disease Workshop (BRS 2017)
HUGHES, JULIETTE (Recipient), 27 Jun 2017
Prize