School of Life Sciences

  • United Kingdom

Research Output 1968 2020

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Letter
2019

Cyanotoxin production beyond the cyanobacteria

Codd, G. A. & Nunn, P. B., 29 Jun 2019, In : Toxicon. 168, p. 93-94 2 p.

Research output: Contribution to journalLetter

Male genital lichen sclerosus and filaggrin

Shim, T. N., Brown, S. J., Francis, N. D., Dinneen, M., Hawkins, D., Muneer, A., Minhas, S., McLean, W. H. I. & Bunker, C. B., 17 Jun 2019, In : Clinical and Experimental Dermatology. 2 p.

Research output: Contribution to journalLetter

Lichen Sclerosus et Atrophicus
Genitalia
Autoimmunity
Skin Diseases
Epidermis

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)
80 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)
110 Downloads (Pure)

An evolutionarily conserved ribosome-rescue pathway maintains epidermal homeostasis

Liakath-Ali, K., Mills, E. W., Sequeira, I., Lichtenberger, B. M., Pisco, A. O., Sipilä, K. H., Mishra, A., Yoshikawa, H., Wu, C. C-C., Ly, T., Lamond, A. I., Adham, I. M., Green, R. & Watt, F. M., 11 Apr 2018, In : Nature. 556, p. 376-380 5 p.

Research output: Contribution to journalLetter

Open Access
File
Ribosomes
Homeostasis
Stem Cells
Sirolimus
Quality Control
7 Citations (Scopus)
132 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)
23 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)
74 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

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

Palmoplantar Keratoderma
Mutation
Genes
Weight-Bearing
Carrier Proteins
1 Citation (Scopus)
86 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

Reply to Jiménez-Alonso et al., Schooling and Zhao, and Mortazavi: Further discussion on the immunological model of carcinogenesis

Palmer, S., Albergante, L., Blackburn, C. C. & Newman, T. J., 8 May 2018, In : Proceedings of the National Academy of Sciences of the United States of America. 115, 19, p. E4319-E4321 3 p.

Research output: Contribution to journalLetter

Open Access

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)
109 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
17 Citations (Scopus)
76 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
100 Citations (Scopus)
96 Downloads (Pure)

Fructose-1,6-bisphosphate and aldolase mediate glucose sensing by AMPK

Zhang, C-S., Hawley, S. A., Zong, Y., Li, M., Wang, Z., Gray, A., Ma, T., Cui, J., Feng, J-W., Zhu, M., Wu, Y-Q., Li, T. Y., Ye, Z., Lin, S-Y., Yin, H., Piao, H-L., Hardie, D. G. & Lin, S-C., 3 Aug 2017, In : Nature. 548, 7665, p. 112-116 23 p.

Research output: Contribution to journalLetter

Open Access
File
Fructose-Bisphosphate Aldolase
AMP-Activated Protein Kinases
Glucose
Adenosine Monophosphate
Adenosine Diphosphate
1 Citation (Scopus)
85 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
34 Citations (Scopus)

mTORC1-dependent AMD1 regulation sustains polyamine metabolism in prostate cancer

Zabala-Letona, A., Arruabarrena-Aristorena, A., Martín-Martín, N., Fernandez-Ruiz, S., Sutherland, J. D., Clasquin, M., Tomas-Cortazar, J., Jimenez, J., Torres, I., Quang, P., Ximenez-Embun, P., Bago, R., Ugalde-Olano, A., Loizaga-Iriarte, A., Lacasa-Viscasillas, I., Unda, M., Torrano, V., Cabrera, D., van Liempd, S. M., Cendon, Y. & 44 others, Polentinos-Castro, E., Murray, S., Revandkar, A., Alimonti, A., Zhang, Y., Barnett, A., Lein, G., Pirman, D., Cortazar, A. R., Arreal, L., Prudkin, L., Astobiza, I., Valcarcel-Jimenez, L., Zuñiga-García, P., Fernandez-Dominguez, I., Piva, M., Caro-Maldonado, A., Sánchez-Mosquera, P., Castillo-Martín, M., Serra, V., Beraza, N., Gentilella, A., Thomas, G., Azkargorta, M., Elortza, F., Farràs, R., Olmos, D., Efeyan, A., Anguita, J., Muñoz, J., Falcón-Pérez, J. M., Barrio, R., Macarulla, T., Mato, J. M., Martinez-Chantar, M. L., Cordon-Cardo, C., Aransay, A. M., Marks, K., Baselga, J., Tabernero, J., Nuciforo, P., Manning, B. D., Marjon, K. & Carracedo, A., 6 Jul 2017, In : Nature. 547, 7661, p. 109-113 22 p.

Research output: Contribution to journalLetter

Adenosylmethionine Decarboxylase
Polyamines
Prostatic Neoplasms
Neoplasms
Metabolomics
6 Citations (Scopus)
53 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
3 Citations (Scopus)

Reply to Nakov et al. Model choice requires biological insight when studying the ancestral habitat of photosynthetic eukaryotes

Sánchez-Baracaldo, P., Bianchini, G., Huelsenbeck, J. P., Raven, J. A., Pisani, D. & Knoll, A. H., 12 Dec 2017, In : Proceedings of the National Academy of Sciences of the United States of America. 114, 50, p. E10608-E10609 2 p.

Research output: Contribution to journalLetter

50 Citations (Scopus)
221 Downloads (Pure)

USP7 small-molecule inhibitors interfere with ubiquitin binding

Kategaya, L., Di Lello, P., Rougé, L., Pastor, R., Clark, K. R., Drummond, J., Kleinheinz, T., Lin, E., Upton, J-P., Prakash, S., Heideker, J., McCleland, M., Ritorto, M. S., Alessi, D. R., Trost, M., Bainbridge, T. W., Kwok, M. C. M., Ma, T. P., Stiffler, Z., Brasher, B. & 24 others, Tang, Y., Jaishankar, P., Hearn, B. R., Renslo, A. R., Arkin, M. R., Cohen, F., Yu, K., Peale, F., Gnad, F., Chang, M. T., Klijn, C., Blackwood, E., Martin, S. E., Forrest, W. F., Ernst, J. A., Ndubaku, C., Wang, X., Beresini, M. H., Tsui, V., Schwerdtfeger, C., Blake, R. A., Murray, J., Maurer, T. & Wertz, I. E., 18 Oct 2017, In : Nature. 550, p. 534-538 5 p.

Research output: Contribution to journalLetter

Open Access
File
Ubiquitin-Specific Proteases
Ubiquitin
Magnetic Resonance Spectroscopy
Tumor Suppressor Protein p53
Proteins
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)
62 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

40 Citations (Scopus)
176 Downloads (Pure)

Genomic analysis of 6,000-year-old cultivated grain illuminates the domestication history of barley

Mascher, M., J. Schuenemann, V., Davidovich, U., Marom, N., Himmelbach, A., Hübner, S., Korol, A., David, M., Reiter, E., Riehl, S., Schreiber, M., Vohr, S. H., Green, R. E., Dawson, I. K., Russell, J., Kilian, B., Muehlbauer, G. J., Waugh, R., Fahima, T., Krause, J. & 2 others, Weiss, E. & Stein, N., Sep 2016, In : Nature Genetics. 48, 9, p. 1089-1093 5 p.

Research output: Contribution to journalLetter

Open Access
File
Hordeum
Genome
Exome
Jordan
Gene Flow
1 Citation (Scopus)
43 Downloads (Pure)

MD simulation of high-resolution X-ray structures reveals post-translational modification dependent conformational changes in HSF-DNA interaction

Feng, H., Wang, S., Guo, L., Punekar, A. S., Ladenstein, R., Wang, D-C. & Liu, W., Dec 2016, In : Protein and Cell. 7, 12, p. 916-920 5 p.

Research output: Contribution to journalLetter

Open Access
File
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)
43 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
11 Citations (Scopus)
636 Downloads (Pure)

A link between ATP and SUR2A: a novel mechanism explaining cardioprotection at high altitude

Mohammed Abdul, K. S., Jovanovic, S., Du, Q., Sukhodub, A. & Jovanovic, A., 15 Jun 2015, In : International journal of cardiology. 189, p. 73-76 4 p.

Research output: Contribution to journalLetter

Open Access
File
147 Citations (Scopus)

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

Shlien, A., Campbell, B. B., De Borja, R., Alexandrov, L. B., Merico, D., Wedge, D., Van Loo, P., Tarpey, P. S., Coupland, P., Behjati, S., Pollett, A., Lipman, T., Heidari, A., Deshmukh, S., Avitzur, N., Meier, B., Gerstung, M., Hong, Y., Merino, D. M., Ramakrishna, M. & 31 others, Remke, M., Arnold, R., Panigrahi, G. B., Thakkar, N. P., Hodel, K. P., Henninger, E. E., Göksenin, A. Y., Bakry, D., Charames, G. S., Druker, H., Lerner-Ellis, J., Mistry, M., Dvir, R., Grant, R., Elhasid, R., Farah, R., Taylor, G. P., Nathan, P. C., Alexander, S., Ben-Shachar, S., Ling, S. C., Gallinger, S., Constantini, S., Dirks, P., Huang, A., Scherer, S. W., Grundy, R. G., Durno, C., Aronson, M., Gartner, A. & for the Biallelic Mismatch Repair Deficiency Consortium, 2 Feb 2015, In : Nature Genetics. 47, 3, p. 257-262 6 p.

Research output: Contribution to journalLetter

Mutation
Genes
Neoplasms
DNA Mismatch Repair
DNA-Directed DNA Polymerase
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

156 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)
66 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
2 Citations (Scopus)
3 Downloads (Pure)
Open Access
File
91 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
26 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
8 Citations (Scopus)
146 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
209 Citations (Scopus)

Piezo1 integration of vascular architecture with physiological force

Li, J., Hou, B., Tumova, S., Muraki, K., Bruns, A., Ludlow, M. J., Sedo, A., Hyman, A. J., McKeown, L., Young, R. S., Yuldasheva, N. Y., Majeed, Y., Wilson, L. A., Rode, B., Bailey, M. A., Kim, H. R., Fu, Z., Carter, D. A. L., Bilton, J., Imrie, H. & 8 others, Ajuh, P., Dear, T. N., Cubbon, R. M., Kearney, M. T., Prasad, K. R., Evans, P. C., Ainscough, J. F. X. & Beech, D. J., 13 Nov 2014, In : Nature. 515, 7526, p. 279-82 4 p.

Research output: Contribution to journalLetter

Blood Vessels
Endothelial Cells
Calcium
Haploinsufficiency
Cell Polarity
2013
6 Citations (Scopus)

Cardioprotective SUR2A promotes stem cell properties of cardiomyocytes

Land, S. C., Walker, D. J., Du, Q. & Jovanovic, A., 12 Oct 2013, In : International journal of cardiology. 168, 5, p. 5090-5092 3 p.

Research output: Contribution to journalLetter

139 Citations (Scopus)

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

Samuelov, L., Sarig, O., Harmon, R. M., Rapaport, D., Ishida-Yamamoto, A., Isakov, O., Koetsier, J. L., Gat, A., Goldberg, I., Bergman, R., Spiegel, R., Eytan, O., Geller, S., Peleg, S., Shomron, N., Goh, C. S. M., Wilson, N. J., Smith, F. J. D., Pohler, E., Simpson, M. A. & 6 others, McLean, W. H. I., Irvine, A. D., Horowitz, M., McGrath, J. A., Green, K. J. & Sprecher, E., 2013, In : Nature Genetics.

Research output: Contribution to journalLetter

Desmoglein 1
Dermatitis
Hypersensitivity
Wasting Syndrome
Desmosomes
14 Citations (Scopus)

Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy: Expanding the differential diagnosis for pachyonychia congenita

Wilson, N. J., Hansen, C. D., Azkur, D., Kocabas, C. N., Metin, A., Coskun, Z., Schwartz, M. E., Hull, P. R., McLean, W. H. I. & Smith, F. J. D., Apr 2013, In : Journal of Dermatological Science. 70, 1, p. 58-60 3 p.

Research output: Contribution to journalLetter

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
2012
228 Citations (Scopus)

Natural variation in a homolog of Antirrhinum CENTRORADIALIS contributed to spring growth habit and environmental adaptation in cultivated barley

Comadran, J., Kilian, B., Russell, J., Ramsay, L., Stein, N., Ganal, M., Shaw, P., Bayer, M., Thomas, W., Marshall, D., Hedley, P., Tondelli, A., Pecchioni, N., Francia, E., Korzun, V., Walther, A. & Waugh, R., Dec 2012, In : Nature Genetics. 44, 12, p. 1388-1392 5 p.

Research output: Contribution to journalLetter

53 Citations (Scopus)

Reanalysis of phosphoproteomics data uncovers ADP-ribosylation sites

Matic, I., Ahel, I. & Hay, R. T., Aug 2012, In : Nature Methods. 9, 8, p. 771-772 2 p.

Research output: Contribution to journalLetter

14 Citations (Scopus)

The role of ATM in response to metformin treatment and activation of AMPK reply

Zhou, K., Bellenguez, C., Sutherland, C., Hardie, G., Palmer, C., Donnelly, P. & Pearson, E., Apr 2012, In : Nature Genetics. 44, 4, p. 361-362 2 p.

Research output: Contribution to journalLetter

2011
277 Citations (Scopus)

Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes

Zhou, K., Bellenguez, C., Spencer, C. C. A., Bennett, A. J., Coleman, R. L., Tavendale, R., Hawley, S. A., Donnelly, L. A., Schofield, C., Groves, C. J., Burch, L., Carr, F., Strange, A., Freeman, C., Blackwell, J. M., Bramon, E., Brown, M. A., Casas, J. P., Corvin, A., Craddock, N. & 31 others, Deloukas, P., Dronov, S., Duncanson, A., Edkins, S., Gray, E., Hunt, S., Jankowski, J., Langford, C., Markus, H. S., Mathew, C. G., Plomin, R., Rautanen, A., Sawcer, S. J., Samani, N. J., Trembath, R., Viswanathan, A. C., Wood, N. W., Harries, L. W., Hattersley, A. T., Doney, A. S. F., Colhoun, H., Morris, A. D., Sutherland, C., Hardie, D. G., Peltonen, L., McCarthy, M. I., Holman, R. R., Palmer, C. N. A., Donnelly, P., Pearson, E. R. & Wellcome Trust Case Control Consor, GoDARTS UKPDS Diabet Pharmacogenet, MAGIC Investigators, Feb 2011, In : Nature Genetics. 43, 2, p. 117-120 4 p.

Research output: Contribution to journalLetter

10 Citations (Scopus)

Filaggrin null mutations are not a protective factor for acne vulgaris

Common, J. E. A., Brown, S. J., Haines, R. L., Goh, C. S. M., Chen, H., Balakrishnan, A., Munro, C. S., Tan, A. W. H., Tan, H. H., Tang, M. B. Y. & Lane, E. B., Jun 2011, In : Journal of Investigative Dermatology. 131, 6, p. 1378-1380 3 p.

Research output: Contribution to journalLetter

152 Citations (Scopus)

INTERMEDIUM-C, a modifier of lateral spikelet fertility in barley, is an ortholog of the maize domestication gene TEOSINTE BRANCHED 1

Ramsay, L., Comadran, J., Druka, A., Marshall, D. F., Thomas, W. T. B., Macaulay, M., MacKenzie, K., Simpson, C., Fuller, J., Bonar, N., Hayes, P. M., Lundqvist, U., Franckowiak, J. D., Close, T. J., Muehlbauer, G. J. & Waugh, R., Feb 2011, In : Nature Genetics. 43, 2, p. 169-172 4 p.

Research output: Contribution to journalLetter

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