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

• 109111 Citations
• 134 h-index
• 1584 Article
• 102 Review article
• 31 Letter
• 29 Chapter
• 169 More
  • 24 Chapter (peer-reviewed)
  • 24 Meeting abstract
  • 23 Editorial
  • 21 Comment/debate
  • 14 Conference contribution
  • 14 Patent
  • 12 Book/Film/Article review
  • 8 Other contribution
  • 4 Other report
  • 4 Short survey
  • 3 Exhibition
  • 2 Foreword/postscript
  • 2 Paper
  • 2 Poster
  • 2 Conference article
  • 2 Special issue
  • 2 Digital or Visual Products
  • 1 Book
  • 1 Entry for encyclopedia/dictionary
  • 1 Abstract
  • 1 Artefact
  • 1 Exhibition catalogue
  • 1 Preprint

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., 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

  • Electromagnetic Phenomena 100%
  • DNA Damage 73%
  • Light 59%
  • Viruses 56%
  • Technology 55%
  17 Citations (Scopus)

  186 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., Dias, A. G. & Torres-Santos, E. C., 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

  • nitrones 100%
  • Nitrone 67%
  • Anti Leishmaniasis 59%
  • Parasite Load 55%
  • Thiophenes 31%
  4 Citations (Scopus)

  22 Downloads (Pure)
• 2019

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

  Zamiri, M., 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

  • Hyperkeratosis of the palms and soles and esophageal papillomas 100%
  • Desmoglein 1 78%
  • Keratin-16 43%
  • Keratin-1 41%
  • Desmoplakins 39%
  2 Citations (Scopus)

  116 Downloads (Pure)

• Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB

  Zamiri, M., 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

  • Palmoplantar Keratoderma 100%
  • Keratosis palmoplantaris papulosa 47%
  • Mutation 36%
  • Genes 26%
  • Weight-Bearing 23%
  3 Citations (Scopus)

  161 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., 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
  8 Citations (Scopus)

  260 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

  • filaggrin 100%
  • Atopic Dermatitis 36%
  • Genes 27%
  • Costs and Cost Analysis 21%
  • Polymerase Chain Reaction 20%
  30 Citations (Scopus)

  375 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 othersO'Toole, E. A., Simpson, M. A. & Kelsell, D. P., 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
  24 Citations (Scopus)

  169 Downloads (Pure)

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

  Kono, M., Akiyama, M., 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

  • filaggrin 100%
  • Food Hypersensitivity 81%
  • Mutation 38%
  • Child 30%
  • Ichthyosis Vulgaris 29%
  6 Citations (Scopus)

  238 Downloads (Pure)

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

  Roekevisch, E., 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

  • filaggrin 100%
  • Loss of Function Mutation 78%
  • Atopic Dermatitis 72%
  • Immunosuppressive Agents 57%
  • Mutation 38%
  8 Citations (Scopus)

  241 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
  1 Citation (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., 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
  7 Citations (Scopus)

  253 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. & 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

  • Pyroptosis 100%
  • Caspase 1 92%
  • Inflammasomes 90%
  • Interleukin-18 88%
  • Pedigree 82%
  50 Citations (Scopus)

  374 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., 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)

  165 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., 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

  • Dowling-Degos Disease 100%
  • Glucosyltransferases 80%
  • Genetic Databases 52%
  • Mutation 30%
  • galactoside 2-alpha-L-fucosyltransferase 22%
  11 Citations (Scopus)

  134 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., 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., 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
  6 Citations (Scopus)

  135 Downloads (Pure)

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

  Wee, J. S., 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., 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., 19 Aug 2016, In: FEBS Letters. 590, 16, p. 2776-2786 11 p.

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

  Open Access

  File

  • Glucosephosphate Dehydrogenase 100%
  • Trypanosoma cruzi 97%
  • NADP(+) 89%
  • NADP 87%
  • Cofactor 74%
  16 Citations (Scopus)

  173 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., Nov 2015, In: Journal of Investigative Dermatology. 135, 11, p. 2879-2883 5 p.

  Research output: Contribution to journal › Letter › peer-review
  19 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., 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 othersKalb, 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

  • Atopic Dermatitis 100%
  • Genome-Wide Association Study 99%
  • Genetic Association Studies 33%
  • Skin Diseases 30%
  • Hispanic Americans 30%
  383 Citations (Scopus)

• Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

  Pohler, E., Cunningham, F., 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
  10 Citations (Scopus)

  169 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

  • Trypanosoma brucei brucei 100%
  • Quorum Sensing 96%
  • Dissection 66%
  • Parasites 63%
  • Genome 52%
  148 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

  • allyl isothiocyanate 100%
  • Isothiocyanates 94%
  • sulforafan 87%
  • Trypanocidal 87%
  • Sulforaphane 74%
  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

  • Proteins 100%
  • Isothermal Titration Calorimetry 60%
  • Epitope 55%
  • X-Ray Crystallography 44%
  • Alpha Subunit Hypoxia-Inducible Factor 1 44%
  45 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., 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%
  • Keratosis palmoplantaris papulosa 70%
  • Genetic Databases 42%
  • Mutation 36%
  • Genes 26%
  9 Citations (Scopus)

  255 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., Dec 2013, In: British Journal of Dermatology. 169, 6, p. 1357-1360 4 p.

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

  Open Access
  1 Citation (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., 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
  7 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 othersKennedy, 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., He, C-D. & Zhang, X., Feb 2009, In: Nature Genetics. 41, 2, p. 228-233 6 p.

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

  • Marie Unna congenital hypotrichosis 100%
  • Loss of Function Mutation 55%
  • Open Reading Frames 46%
  • Alopecia 34%
  • Hair Removal 23%
  140 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)