Biological Chemistry and Drug Discovery

Research output

Research output per year 1972 2005 2007 2008 2009 2010 2011 2012 2013 2014 2015 2016 2017 2018 2019 2020 2021 2022 2023 2024 2025

• 147377 Citations
• 156 h-index
• 1736 Article
• 113 Review article
• 31 Letter
• 30 Chapter
• 203 More
  • 28 Meeting abstract
  • 26 Chapter (peer-reviewed)
  • 26 Comment/debate
  • 26 Editorial
  • 15 Patent
  • 14 Conference contribution
  • 12 Book/Film/Article review
  • 11 Other contribution
  • 9 Preprint
  • 7 Other report
  • 4 Short survey
  • 4 Exhibition
  • 3 Abstract
  • 3 Digital or Visual Products
  • 2 Foreword/postscript
  • 2 Paper
  • 2 Poster
  • 2 Conference article
  • 2 Special issue
  • 1 Book
  • 1 Entry for encyclopedia/dictionary
  • 1 Artefact
  • 1 Exhibition catalogue
  • 1 Software

Research output per year

Research output per year

Search results

• 2021

  Minimal, superficial DNA damage in human skin from filtered far-ultraviolet C

  Hickerson, R. P., Conneely, M. P., Tsutsumi, S. K. H., Wood, K., Jackson, D. N., Ibbotson, S. H. & Eadie, E. (Lead / Corresponding author), Jun 2021, In: British Journal of Dermatology. 184, 6, p. 1197-1199 3 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

  • Human Skin 100%
  • DNA Damage 100%
  • Lamp 100%
  • Far Ultraviolet 100%
  • COVID-19 100%
  29 Citations (Scopus)

  393 Downloads (Pure)

• Monocyclic Nitro-heteroaryl Nitrones with Dual Mechanism of Activation: Synthesis and Antileishmanial Activity

  Pacheco, J. D. S., Costa, D. D. S., Cunha-Júnior, E. F., Andrade-Neto, V. V., Fairlamb, A. H., Wyllie, S., Goulart, M. O. F., Santos, D. C., Silva, T. L., Alves, M. A., Costa, P. R. R. (Lead / Corresponding author), Dias, A. G. (Lead / Corresponding author) & Torres-Santos, E. C. (Lead / Corresponding author), 9 Sept 2021, In: ACS Medicinal Chemistry Letters. 12, 9, p. 1405-1412 8 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

  • Nitro 100%
  • Activation Mechanism 100%
  • Monocyclic 100%
  • Dual Mechanism 100%
  • Antileishmanial Activity 100%
  12 Citations (Scopus)

  83 Downloads (Pure)
• 2019

  Novel mutations in desmoglein 1: Focal palmoplantar keratoderma in milder phenotypes

  Zamiri, M. (Lead / Corresponding author), Wilson, N. J., O'Toole, E. A. & Smith, F. J. D., 1 Sept 2019, In: British Journal of Dermatology. 181, 3, p. 618-620 3 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

  • Palmoplantar Keratoderma 100%
  • Mild Phenotype 100%
  • Desmoglein 100%
  • Novel mutation 100%
  • Desmoglein 1 100%
  3 Citations (Scopus)

  193 Downloads (Pure)

• Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB

  Zamiri, M. (Lead / Corresponding author), Wilson, N. J., Mackenzie, A., Sobey, G., Leitch, C. & Smith, F. J. D., May 2019, In: British Journal of Dermatology. 180, 5, p. 1250-1251 2 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

  • Heterozygous mutation 100%
  • Palmoplantar Keratoderma 100%
  • GatCAB 100%
  • Copyright 50%
  • Binding Protein 50%
  5 Citations (Scopus)

  293 Downloads (Pure)
• 2018

  A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis

  Yu, X., Chen, F., Ni, C., Zhang, G., Zheng, L., Zhang, J., Li, C., Sandilands, A., Yao, Z. & Li, M. (Lead / Corresponding author), Jan 2018, In: Journal of Investigative Dermatology. 138, 1, p. 230-233 4 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File
  10 Citations (Scopus)

  367 Downloads (Pure)

• Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants

  Wong, X. F. C. C., Denil, S. L. I. J., Foo, J. N., Chen, H., Ling Tay, A. S., Haines, R. L., Tang, M. B. Y., McLean, W. H. I., Sandilands, A., Smith, F. J. D., Lane, E. B., Liu, J. & Common, J. E. A., Feb 2018, In: Journal of Allergy and Clinical Immunology. 141, 2, p. 814-816 3 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

  • Disease Diagnosis 100%
  • Filaggrin Gene 100%
  • Disease Variants 100%
  • Array-based 100%
  • Comprehensive Detection 100%
  42 Citations (Scopus)

  502 Downloads (Pure)

• Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes

  Pigors, M., Common, J. E. A., Wong, X. F. C. C., Malik, S., Scott, C. A., Tabarra, N., Liany, H., Liu, J., Limviphuvadh, V., Maurer-Stroh, S., Tang, M. B., Lench, N., Margolis, D. J., van Heel, D. A., Mein, C. A., Novak, N., Baurecht, H., Weidinger, S., McLean, W. H. I. & Irvine, A. D. & 3 others, O'Toole, E. A., Simpson, M. A. & Kelsell, D. P. (Lead / Corresponding author), Dec 2018, In: Journal of Investigative Dermatology. 138, 12, p. 2674-2677 4 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File
  37 Citations (Scopus)

  276 Downloads (Pure)

• Filaggrin gene mutations may influence the persistence of food allergies in Japanese primary school children

  Kono, M. (Lead / Corresponding author), Akiyama, M. (Lead / Corresponding author), Inoue, Y., Nomura, T., Hata, A., Okamoto, Y., Takeichi, T., Muro, Y., McLean, W. H. I., Shimizu, H., Sugiura, K., Suzuki, Y. & Shimojo, N., 19 Jul 2018, In: British Journal of Dermatology. 179, 1, p. 190-191 2 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

  • Primary School children 100%
  • Filaggrin Gene mutation 100%
  • Food Allergy 100%
  • FLG mutation 100%
  • Gene Mutation 100%
  7 Citations (Scopus)

  336 Downloads (Pure)

• Patients with atopic dermatitis with filaggrin loss-of-function mutations show good but lower responses to immunosuppressive treatment

  Roekevisch, E. (Lead / Corresponding author), Leeflang, M. M. G., Schram, M. E., Campbell, L. E., Irwin McLean, W. H., Kezic, S., Bos, J. D., Spuls, P. I. & Middelkamp-Hup, M. A., 8 Jan 2018, In: British Journal of Dermatology. 177, 6, p. 1745-1746 2 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

  • Gain-of-function mutation 100%
  • Filaggrin 100%
  • Atopic Dermatitis 100%
  • Low Response 100%
  • Filaggrin mutations 100%
  10 Citations (Scopus)

  349 Downloads (Pure)

• Skin fragility, woolly hair syndrome with a desmoplakin mutation – a case from India

  Peter, D. C. V., Thomas, M., Wilson, N. J. & Smith, F. J. D., Sept 2018, In: International Journal of Dermatology. 57, 9, p. e73-e75 3 p.

  Research output: Contribution to journal › Letter › peer-review
  2 Citations (Scopus)

• Striate palmoplantar keratoderma resulting from a missense mutation in DSG1

  Vodo, D., O'Toole, E. A., Malchin, N., Lahav, A., Adir, N., Sarig, O., Green, K., Smith, F. J. D. & Sprecher, E. (Lead / Corresponding author), 17 Sept 2018, In: British Journal of Dermatology. 179, 3, p. 755-757 3 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File
  9 Citations (Scopus)

  324 Downloads (Pure)
• 2017

  Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype

  Volker-Touw, C. M. L., de Koning, H. D., Giltay, J., de Kovel, C., van Kempen, T. S., Oberndorff, K., Boes, M., van Steensel, M. A. M., van Well, G. T. J., Blokx, W. A. M., Schalkwijk, J., Simon, A., Frenkel, J. (Lead / Corresponding author) & van Gijn, M. E., Jan 2017, In: British Journal of Dermatology. 176, 1, p. 244-248 5 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

  • Protein Complex 100%
  • Copyright 100%
  • Interleukin-1β 100%
  • Inflammatory Cytokines 100%
  • Innate Immune Response 100%
  61 Citations (Scopus)

  497 Downloads (Pure)

• Keratin 6b variant p.Gly499Ser reported in delayed-onset pachyonychia congenita is a non-pathogenic polymorphism

  Smith, F. J. D. & McLean, W. H. I. (Lead / Corresponding author), 3 Dec 2017, In: Journal of Dermatology. 44, 12, p. e312 1 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File
  3 Citations (Scopus)

  203 Downloads (Pure)

• Mutations in POGLUT1 in Galli-Galli/Dowling Degos-disease

  Wilson, N. J., Cole, C., Kroboth, K., Hunter, W. N., Mann, J. A., Irwin McLean, W. H., Kernland Lang, K., Beltraminelli, H., Sabroe, R. A., Tiffin, N., Sobey, G. J., Borradori, L., Simpson, E. & Smith, F. J. D. (Lead / Corresponding author), Jan 2017, In: British Journal of Dermatology. 176, 1, p. 270-274 5 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

  • Encoded Protein 100%
  • Dowling-Degos Disease 100%
  • O-glucosyltransferase 100%
  • Glucosyltransferase 100%
  • Autosomal Dominant Inheritance 100%
  16 Citations (Scopus)

  183 Downloads (Pure)
• 2016

  A novel KRT6A mutation in a case of pachyonychia congenita from India

  Tiwary, A. K., Wilson, N. J., Schwartz, M. E. & Smith, F. J. D. (Lead / Corresponding author), 2 Dec 2016, In: Indian Journal of Dermatology, Venereology, and Leprology. 83, 1, p. 95-98 4 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access
  1 Citation (Scopus)

• Filaggrin genotype does not determine the skin's threshold to UV-induced erythema

  Forbes, D., Johnston, L., Gardner, J., MacCallum, S. F., Campbell, L. E., Dinkova-Kostova, A. T., McLean, W. H. I., Ibbotson, S. H., Dawe, R. S. & Brown, S. J. (Lead / Corresponding author), Apr 2016, In: Journal of Allergy and Clinical Immunology. 137, 4, p. 1280-1282.e3 6 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File
  7 Citations (Scopus)

  194 Downloads (Pure)

• Focal PPK secondary to a novel KRT6C mutation (Pachyonychia congenita-K6c)

  Wee, J. S. (Lead / Corresponding author), Smith, F. J. D., Wilson, N. J. & O'Toole, E. A., 12 Aug 2016, In: Journal of the European Academy of Dermatology and Venereology. 30, 8, p. 1415-1416 2 p.

  Research output: Contribution to journal › Letter › peer-review
  3 Citations (Scopus)

• Open Lab as a source of hits and leads against tuberculosis, malaria and kinetoplastid diseases

  Ballell, L. (Lead / Corresponding author), Strange, M., Cammack, N., Fairlamb, A. H. & Borysiewicz, L., Apr 2016, In: Nature Reviews Drug Discovery. 15, 4, 3 p., 292.

  Research output: Contribution to journal › Letter › peer-review
  9 Citations (Scopus)

• The structure of a Trypanosoma cruzi glucose-6-phosphate dehydrogenase reveals differences from the mammalian enzyme

  Mercaldi, G. F., Dawson, A., Hunter, W. N. & Cordeiro, A. T. (Lead / Corresponding author), 19 Aug 2016, In: FEBS Letters. 590, 16, p. 2776-2786 11 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

  • Trypanosoma Cruzi (T. cruzi) 100%
  • Glucose-6-phosphate Dehydrogenase (G6PD) 100%
  • Trypanosoma Cruzi 100%
  • Glucose 6 Phosphate Dehydrogenase 100%
  • Enzyme 100%
  22 Citations (Scopus)

  262 Downloads (Pure)
• 2015

  Expanding the phenotypic spectrum of Olmsted syndrome

  Wilson, N. J., Cole, C., Milstone, L. M., Kiszewski, A. E., Hansen, C. D., O'Toole, E. A., Schwartz, M. E., McLean, W. H. I. & Smith, F. J. D. (Lead / Corresponding author), Nov 2015, In: Journal of Investigative Dermatology. 135, 11, p. 2879-2883 5 p.

  Research output: Contribution to journal › Letter › peer-review
  25 Citations (Scopus)

• Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

  Paternoster, L. (Lead / Corresponding author), Standl, M., Waage, J., Baurecht, H., Hotze, M., Strachan, D. P., Curtin, J. A., Bønnelykke, K., Tian, C., Takahashi, A., Esparza-Gordillo, J., Alves, A. C., Thyssen, J. P., Den Dekker, H. T., Ferreira, M. A., Altmaier, E., Sleiman, P. M. A., Xiao, F. L., Gonzalez, J. R. & Marenholz, I. & 130 others, Kalb, B., Pino-Yanes, M., Xu, C. J., Carstensen, L., Groen-Blokhuis, M. M., Venturini, C., Pennell, C. E., Barton, S. J., Levin, A. M., Curjuric, I., Bustamante, M., Kreiner-Møller, E., Lockett, G. A., Bacelis, J., Bunyavanich, S., Myers, R. A., Matanovic, A., Kumar, A., Tung, J. Y., Hirota, T., Kubo, M., McArdle, W. L., Henderson, A. J., Kemp, J. P., Zheng, J., Smith, G. D., Rüschendorf, F., Bauerfeind, A., Lee-Kirsch, M. A., Arnold, A., Homuth, G., Schmidt, C. O., Mangold, E., Cichon, S., Keil, T., Rodríguez, E., Peters, A., Franke, A., Lieb, W., Novak, N., Fölster-Holst, R., Horikoshi, M., Pekkanen, J., Sebert, S., Husemoen, L. L., Grarup, N., De Jongste, J. C., Rivadeneira, F., Hofman, A., Jaddoe, V. W. V., Pasmans, S. G. M. A., Elbert, N. J., Uitterlinden, A. G., Marks, G. B., Thompson, P. J., Matheson, M. C., Robertson, C. F., Ried, J. S., Li, J., Zuo, X. B., Zheng, X. D., Yin, X. Y., Sun, L. D., McAleer, M. A., O'Regan, G. M., Fahy, C. M. R., Campbell, L. E., Macek, M., Kurek, M., Hu, D., Eng, C., Postma, D. S., Feenstra, B., Geller, F., Hottenga, J. J., Middeldorp, C. M., Hysi, P., Bataille, V., Spector, T., Tiesler, C. M. T., Thiering, E., Pahukasahasram, B., Yang, J. J., Imboden, M., Huntsman, S., Vilor-Tejedor, N., Relton, C. L., Myhre, R., Nystad, W., Custovic, A., Weiss, S. T., Meyers, D. A., Söderhäll, C., Melén, E., Ober, C., Raby, B. A., Simpson, A., Jacobsson, B., Holloway, J. W., Bisgaard, H., Sunyer, J., Probst-Hensch, N. M., Williams, L. K., Godfrey, K. M., Wang, C. A., Boomsma, D. I., Melbye, M., Koppelman, G. H., Jarvis, D., McLean, W. H. I., Irvine, A. D., Zhang, X. J., Hakonarson, H., Gieger, C., Burchard, E. G., Martin, N. G., Duijts, L., Linneberg, A., Jarvelin, M. R., Nöthen, M. M., Lau, S., Hübner, N., Lee, Y. A., Tamari, M., Hinds, D. A., Glass, D., Brown, S. J., Heinrich, J., Evans, D. M. & Weidinger, S., Dec 2015, In: Nature Genetics. 47, 12, p. 1449-1456 8 p.

  Research output: Contribution to journal › Letter › peer-review

  • Cell Function 100%
  • Host Resistance 100%
  • T Cell 100%
  • Candidate Gene 100%
  • Genetic Divergence 100%
  500 Citations (Scopus)

• Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

  Pohler, E., Cunningham, F. (Lead / Corresponding author), Sandilands, A., Cole, C., Digby, S., McMillan, J. R., Aristodemou, S., McGrath, J. A., Smith, F. J. D., Mclean, W. H. I., Munro, C. S. & Zamiri, M., 26 Nov 2015, In: British Journal of Dermatology. 173, 5, p. 1292-1294 4 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File
  11 Citations (Scopus)

  211 Downloads (Pure)
• 2014

  Genome-wide dissection of the quorum sensing signalling pathway in Trypanosoma brucei

  Mony, B. M., MacGregor, P., Ivens, A., Rojas, F., Cowton, A., Young, J., Horn, D. & Matthews, K., 30 Jan 2014, In: Nature. 505, 7485, p. 681-685 5 p.

  Research output: Contribution to journal › Letter › peer-review

  • Signaling Pathway 100%
  • Trypanosoma Brucei 100%
  • Trypanosome 100%
  • Quorum Sensing 100%
  • Quorum Sensing Molecules 100%
  162 Citations (Scopus)

• In Vitro and In Vivo studies of trypanocidal activity of dietary isothiocyanates

  Steverding, D., Michaels, S. & Read, K. D., 22 Jan 2014, In: Planta Medica.

  Research output: Contribution to journal › Letter › peer-review

  • Trypanocidal Activity 100%
  • Isothiocyanates 100%
  • Isothiocyanate 100%
  • Sulforaphane 60%
  • Allyl Isothiocyanate 60%
  5 Citations (Scopus)

• Is NMR fragment screening fine-tuned to assess druggability of protein-protein interactions?

  Dias, D. M., Van Molle, I., Baud, M. G. J., Galdeano, C., Geraldes, C. F. G. C. & Ciulli, A., 9 Jan 2014, In: ACS Medicinal Chemistry Letters. 5, 1, p. 23-28 6 p.

  Research output: Contribution to journal › Letter › peer-review

  • Protein-protein Interaction 100%
  • Druggability 100%
  • Fragment Screening 100%
  • Protein-Protein Interaction 100%
  • NMR Spectroscopy 100%
  50 Citations (Scopus)

• New and recurrent AAGAB mutations in punctate palmoplantar keratoderma

  Pohler, E., Huber, M., Boonen, S. E., Zamiri, M., Gregersen, P. A., Sommerlund, M., Ramsing, M., Hohl, D., McLean, W. H. I. & Smith, F. J. (Lead / Corresponding author), 18 Aug 2014, In: British Journal of Dermatology. 171, 2, p. 433-436 4 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

  • Palmoplantar Keratoderma 100%
  • GatCAB 100%
  • Copyright 50%
  • Plaque 50%
  • Causative Gene 50%
  10 Citations (Scopus)

  306 Downloads (Pure)
• 2013

  Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma

  Higgins, E., Capra, M., Schwartz, M. E., Smith, F. J. D., McLean, W. H. I. & Irvine, A. D. (Lead / Corresponding author), Dec 2013, In: British Journal of Dermatology. 169, 6, p. 1357-1360 4 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access
  2 Citations (Scopus)
• 2011

  Triclosan is minimally effective in rodent malaria models

  Baschong, W., Wittlin, S., Inglis, K. A., Fairlamb, A. H., Croft, S. L., Kumar, T. R. S., Fidock, D. A. & Brun, R., Jan 2011, In: Nature Medicine. 17, 1, p. 33-34 2 p.

  Research output: Contribution to journal › Letter › peer-review
  16 Citations (Scopus)
• 2010

  Evidence for genetic modifiers other than filaggrin mutations in X-linked ichthyosis

  Gruber, R. (Lead / Corresponding author), Janecke, A. R., Grabher, D., Sandilands, A., Fauth, C. & Schmuth, M., 13 Apr 2010, In: Journal of Dermatological Science. 58, 1, p. 72-75 4 p.

  Research output: Contribution to journal › Letter › peer-review
  10 Citations (Scopus)
• 2009

  Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

  Wen, Y., Liu, Y., Xu, Y., Zhao, Y., Hua, R., Wang, K., Sun, M., Li, Y., Yang, S., Zhang, X.-J., Kruse, R., Cichon, S., Betz, R. C., Noethen, M. M., van Steensel, M. A. M., van Geel, M., Steijlen, P. M., Hohl, D., Huber, M. & Dunnill, G. S. & 20 others, Kennedy, C., Messenger, A., Munro, C. S., Terrinoni, A., Hovnanian, A., Bodemer, C., de Prost, Y., Paller, A. S., Irvine, A. D., Sinclair, R., Green, J., Shang, D., Liu, Q., Liu, Y., Jiang, L., Chen, H.-D., Lo, W.H.-Y., McLean, W. H. I. (Lead / Corresponding author), He, C.-D. (Lead / Corresponding author) & Zhang, X. (Lead / Corresponding author), Feb 2009, In: Nature Genetics. 41, 2, p. 228-233 6 p.

  Research output: Contribution to journal › Letter › peer-review

  • Gain-of-function mutation 100%
  • Upstream ORF 100%
  • Marie Unna Hereditary Hypotrichosis 100%
  • Loss of Function Mutation 100%
  • Hairless 100%
  159 Citations (Scopus)
• 2005

  Chronic myeloid leukemia CD34+ cells have elevated levels of phosphatidylinositol 3,4,5 trisphosphate (PtdIns(3,4,5)P₃) and lack a PtdIns(3,4,5)P₃ response to cytokines and chemotactic factors; effects reversed by imatinib [9]

  Hamzah, H. G., Pierce, A., Stewart, W. A., Downes, C. P., Gray, A., Irvine, A., Spooncer, E. & Whetton, A. D., 18 Aug 2005, In: Leukemia. 19, 10, p. 1851-1853 3 p.

  Research output: Contribution to journal › Letter › peer-review
  5 Citations (Scopus)