Biological Chemistry and Drug Discovery

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Research Output 1972 2020

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Letter
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 Sep 2019, In : British Journal of Dermatology. 181, 3, p. 618-620 3 p.

Research output: Contribution to journalLetter

Desmoglein 1
Keratin-16
Keratin-1
Desmoplakins
Palmoplantar Keratoderma
2018
3 Citations (Scopus)
94 Downloads (Pure)

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 journalLetter

Open Access
File
9 Citations (Scopus)
167 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 journalLetter

Open Access
File
Atopic Dermatitis
Genes
Costs and Cost Analysis
Polymerase Chain Reaction
filaggrin
6 Citations (Scopus)
42 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., Dec 2018, In : Journal of Investigative Dermatology. 138, 12, p. 2674-2677 4 p.

Research output: Contribution to journalLetter

Open Access
File
2 Citations (Scopus)
96 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 journalLetter

Open Access
File
Food Hypersensitivity
Mutation
Genes
Ichthyosis Vulgaris
Atopic Dermatitis
1 Citation (Scopus)
9 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., 19 Nov 2018, In : The British journal of dermatology. 7 p.

Research output: Contribution to journalLetter

Open Access
File
Palmoplantar Keratoderma
Mutation
Genes
Weight-Bearing
Carrier Proteins
1 Citation (Scopus)
101 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 journalLetter

Open Access
File
Atopic Dermatitis
Immunosuppressive Agents
Mutation
Randomized Controlled Trials
Therapeutics

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., Sep 2018, In : International Journal of Dermatology. 57, 9, p. e73-e75 3 p.

Research output: Contribution to journalLetter

3 Citations (Scopus)
124 Downloads (Pure)

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 Sep 2018, In : British Journal of Dermatology. 179, 3, p. 755-757 3 p.

Research output: Contribution to journalLetter

Open Access
File
Palmoplantar Keratoderma
Genetic Databases
Missense Mutation
2017
20 Citations (Scopus)
97 Downloads (Pure)

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 journalLetter

Open Access
File
Inflammasomes
Caspase 1
Interleukin-18
Interleukin-17
Arthralgia
1 Citation (Scopus)
98 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 journalLetter

Open Access
File
7 Citations (Scopus)
65 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 journalLetter

Open Access
File
Glucosyltransferases
Genetic Databases
Mutation
Proteins
Keratin-5
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 journalLetter

Open Access
6 Citations (Scopus)
74 Downloads (Pure)

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 journalLetter

Open Access
File
1 Citation (Scopus)

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 journalLetter

7 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 journalLetter

6 Citations (Scopus)
48 Downloads (Pure)

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 journalLetter

Open Access
File
Glucosephosphate Dehydrogenase
Trypanosoma cruzi
NADP
Pentoses
Pentose Phosphate Pathway
2015
9 Citations (Scopus)

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 journalLetter

170 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 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 journalLetter

Genome-Wide Association Study
Atopic Dermatitis
Genetic Association Studies
Hispanic Americans
Skin Diseases
3 Citations (Scopus)
88 Downloads (Pure)

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 journalLetter

Open Access
File
2014
93 Citations (Scopus)

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 journalLetter

Quorum Sensing
Trypanosoma brucei brucei
Dissection
Parasites
Genome
2 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 journalLetter

Isothiocyanates
Trypanosoma brucei brucei
Trypanosomiasis
HL-60 Cells
Parasitemia
30 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 journalLetter

Screening
Nuclear magnetic resonance
Proteins
Alpha Subunit Hypoxia-Inducible Factor 1
Ligands
9 Citations (Scopus)
169 Downloads (Pure)

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 journalLetter

Open Access
File
Palmoplantar Keratoderma
Genetic Databases
Mutation
Genes
Chromosomes
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 journalLetter

Open Access
2011
13 Citations (Scopus)

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 journalLetter

2010
7 Citations (Scopus)

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 journalLetter

2009
112 Citations (Scopus)

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., Luo, 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 journalLetter

2005
3 Citations (Scopus)

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 journalLetter