School of Life Sciences

  • United Kingdom

Research Output 1968 2020

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Letter
37 Citations (Scopus)

AIDS vaccine predictions

Coates, A. R. M., Cookson, J., Barton, G. J., Zvelebil, M. J. & Sternberg, M. J. E., 9 Apr 1987, In : Nature. 326, 6113, p. 549-550 2 p.

Research output: Contribution to journalLetter

11 Citations (Scopus)
652 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
3 Citations (Scopus)
90 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
10 Citations (Scopus)
122 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

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
26 Citations (Scopus)

An SH2-SH3 domain hybrid

Russell, R. B. & Barton, G. J., 26 Aug 1993, In : Nature. 364, 6440, p. 765 1 p.

Research output: Contribution to journalLetter

441 Citations (Scopus)

A role for the nuclear envelope in controlling DNA replication within the cell cycle

Blow, J. J. & Laskey, R. A., 7 Apr 1988, In : Nature. 332, 6164, p. 546-548 3 p.

Research output: Contribution to journalLetter

Nuclear Envelope
DNA Replication
Cell Cycle
Mitosis
DNA
8 Citations (Scopus)
152 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
129 Citations (Scopus)
Sulfates
Phosphates
Binding Sites
Proteins
Phosphate-Binding Proteins
2 Citations (Scopus)
12 Downloads (Pure)
Open Access
File
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

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

154 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
282 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

4 Citations (Scopus)

Computer speed and sequence comparison

Barton, G. J., 18 Sep 1992, In : Science. 257, 5077, p. 1609-1610 2 p.

Research output: Contribution to journalLetter

1 Citation (Scopus)

Cyanotoxin production beyond the cyanobacteria

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

Research output: Contribution to journalLetter

146 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
4 Citations (Scopus)

Don't leave dignity out of the cloning debate

Labib, K., 3 Jul 1997, In : Nature. 388, 6637, p. 15-15 1 p.

Research output: Contribution to journalLetter

43 Citations (Scopus)
45 Downloads (Pure)
Open Access
File
active galactic nuclei
opacity
constancy
luminosity
continuums
19 Citations (Scopus)
91 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
16 Citations (Scopus)

Evidence for a second haemoglobin α-Locus duplication in macaca irus

Barnicot, N. A., Wade, P. T. & Cohen, P., 1 Dec 1970, In : Nature. 228, 5269, p. 379-381 3 p.

Research output: Contribution to journalLetter

Macaca
Hemoglobins
Dermatoglyphics
Histidine
Tryptophan
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

6 Citations (Scopus)
35 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
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

2 Citations (Scopus)
89 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
6 Citations (Scopus)
70 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
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

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

109 Citations (Scopus)
113 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
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
46 Citations (Scopus)
195 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
743 Citations (Scopus)

Global analysis of protein phosphorylation in yeast

Ptacek, J., Devgan, G., Michaud, G., Zhu, H., Zhu, X., Fasolo, J., Guo, H., Jona, G., Breitkreutz, A., Sopko, R., McCartney, R. R., Schmidt, M. C., Rachidi, N., Lee, S-J., Mah, A. S., Meng, L., Stark, M. J. R., Stern, D. F., De Virgilio, C., Tyers, M. & 5 others, Andrews, B., Gerstein, M., Schweitzer, B., Predki, P. F. & Snyder, M., 1 Dec 2005, In : Nature. 438, 7068, p. 679-684 6 p.

Research output: Contribution to journalLetter

Yeasts
Phosphorylation
Phosphotransferases
Proteins
Fungal Proteins
43 Citations (Scopus)

Guidelines for reporting the use of gel electrophoresis in proteomics

Gibson, F., Anderson, L., Babnigg, G., Baker, M., Berth, M., Binz, P-A., Borthwick, A., Cash, P., Day, B. W., Friedman, D. B., Garland, D., Gutstein, H. B., Hoogland, C., Jones, N. A., Khan, A., Klose, J., Lamond, A. I., Lemkin, P. F., Lilley, K. S., Minden, J. & 10 others, Morris, N. J., Paton, N. W., Pisano, M. R., Prime, J. E., Rabilloud, T., Stead, D. A., Taylor, C. F., Voshol, H., Wipat, A. & Jones, A. R., Aug 2008, In : Nature Biotechnology. 26, 8, p. 863-864 2 p.

Research output: Contribution to journalLetter

3903 Citations (Scopus)

Inhibition of glycogen synthase kinase-3 by insulin mediated by protein kinase B

Cross, D. A. E., Alessi, D. R., Cohen, P., Andjelkovich, M. & Hemmings, B. A., 28 Dec 1995, In : Nature. 378, p. 785-789 5 p.

Research output: Contribution to journalLetter

Glycogen Synthase Kinase 3
Proto-Oncogene Proteins c-akt
Phosphotransferases
Insulin
90-kDa Ribosomal Protein S6 Kinases
157 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

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
29 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
1 Citation (Scopus)
93 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
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

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
1 Citation (Scopus)
52 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

Misleading radiograph

Ogden, G., Lobban, T. & Liu, Y. C., 9 Mar 1991, In : British Dental Journal. 170, 5, p. 174 1 p.

Research output: Contribution to journalLetter

Open Access
37 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
167 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
7 Citations (Scopus)
61 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
241 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

9 Citations (Scopus)
164 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
3 Citations (Scopus)
81 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
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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
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