Pohler, Elizabeth

Dr

  • 549 Citations
  • 10 h-Index
20022015
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Fingerprint Dive into the research topics where Elizabeth Pohler is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 9 Similar Profiles
Desmoglein 1 Medicine & Life Sciences
Barrett Esophagus Medicine & Life Sciences
Dermatitis Medicine & Life Sciences
Palmoplantar Keratoderma Medicine & Life Sciences
Mutation Medicine & Life Sciences
Wasting Syndrome Medicine & Life Sciences
Haploinsufficiency Medicine & Life Sciences
Hypersensitivity Medicine & Life Sciences

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Research Output 2002 2015

  • 549 Citations
  • 10 h-Index
  • 9 Article
  • 6 Meeting abstract
  • 3 Letter
  • 2 Book/Film/Article review
51 Citations (Scopus)

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

McAleer, M. A., Pohler, E., Smith, F. J. D., Wilson, N. J., Cole, C., MacGowan, S., Koetsier, J. L., Godsel, L. M., Harmon, R. M., Gruber, R., Crumrine, D., Elias, P. M., McDermott, M., Butler, K., Broderick, A., Sarig, O., Sprecher, E., Green, K. J., McLean, W. H. I. & Irvine, A. D., Nov 2015, In : Journal of Allergy and Clinical Immunology. 136, 5, p. 1268-1276 9 p.

Research output: Contribution to journalArticle

Desmoplakins
Wasting Syndrome
Dermatitis
Hypersensitivity
Desmoglein 1
10 Citations (Scopus)

Punctate Palmoplantar Keratoderma Type 1: A Novel AAGAB Mutation and Efficacy of Etretinate

Nomura, T., Yoneta, A., Pohler, E., Suzuki, S., Osawa, R., Mizuno, O., Ohguchi, Y., Nomura, Y., Yamashita, T., McLean, W. H. I. & Shimizu, H., 2014, In : Acta Dermato-Venereologica. 95, 1, p. 110-111 2 p.

Research output: Contribution to journalArticle

Etretinate
Mutation
Palmoplantar Keratoderma
Exome
Genetic Databases
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
10 Citations (Scopus)

Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling

Pohler, E., Zamiri, M., Harkins, C., Salas-Alanis, J. C., Perkins, W., Smith, F. J. D., McLean, W. H. I. & Brown, S. J., Dec 2013, In : Journal of Investigative Dermatology. 133, 12, p. 2805-2808 4 p.

Research output: Contribution to journalLetter

Press / Media

Rare skin disease gene discovered

Elizabeth Pohler, Alan Irvine, Toshifumi Nomura, John A. McGrath, W. H. Irwin McLean, Neil Wilson, Frances J. D. Smith, Aileen Sandilands, Christian Cole, Alan Evans, Sara J. Brown & David R. Goudie

15/10/12

1 item of Media coverage

Press/Media: Research