Research output per year
Research output per year
Personal profile
Education/Academic qualification
Musculoskeletal Biology (medicine), PhD, 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 → …Fingerprint
Dive into the research topics where JULIETTE HUGHES is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research output
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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 › peer-review
Open AccessFile8 Citations (Scopus) -
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 › peer-review
Open AccessFile5 Citations (Scopus)1 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 › peer-review
Open AccessFile -
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 › peer-review
Open AccessFile10 Citations (Scopus) -
Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2‐dioxygenase deficiency in the liver is responsible for homogentisic acid‐derived ochronotic pigmentation
Wilson, P. J. M., Ranganath, L. R., Bou‐Gharios, G., Gallagher, J. A. & Hughes, J. H., 12 Nov 2020, In: JIMD Reports. 58, 1, p. 52-60 9 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile
Activities
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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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AIMS Molecular Science (Journal)
JULIETTE HUGHES (Reviewer)
18 Jan 2021Activity: Publication peer-review and editorial work types › Editorial work
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Bone Research Society (External organisation)
JULIETTE HUGHES (Member)
Feb 2017 → …Activity: Membership types › Membership of network