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KATJA ECKL

  • Senior Lecturer in Biology, Biology
    • 823 Citations
    • 14 h-Index
    20012019
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    Fingerprint Dive into the research topics where KATJA ECKL is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

    Ichthyosis Medicine & Life Sciences
    Skin Medicine & Life Sciences
    Mutation Medicine & Life Sciences
    Skin Diseases Medicine & Life Sciences
    Epidermis Medicine & Life Sciences
    Lipoxygenases Medicine & Life Sciences
    Palmoplantar Keratoderma Medicine & Life Sciences
    Cystatin A Medicine & Life Sciences

    Research Output 2001 2019

    • 823 Citations
    • 14 h-Index
    • 24 Article
    • 1 Book
    • 1 Patent
    1 Downloads (Pure)

    Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan

    Cunha, D. L., Alakloby, O. M., Gruber, R., Kakar, N., Ahmad, J., Alawbathani, S., Plank, R., Eckl, K., Krabichler, B., Altmüller, J., Nurnberg, P., Zschocke, J., Borck, G., Schmuth, M., Alabdulkareem, A. S., Alnutaifi, K. A. & Hennies, H. C., 1 Mar 2019, In : Molecular genetics & genomic medicine. 7, 3, p. e539

    Research output: Contribution to journalArticle

    Open Access
    File
    Ichthyosis
    Saudi Arabia
    Pakistan
    Genetic Association Studies
    Mutation

    Transglutaminase 1 Replacement Therapy Successfully Mitigates the ARCI Phenotype in Full-Thickness Skin Disease Equivalents

    Plank, R., Yealland, G., Miceli, E., Cunha, D. L., Graff, P., Thomforde, S., Gruber, R., Moosbrugger-Martinz, V., Eckl, K., Calderón, M., Hennies, H. C. & Hedtrich, S., 15 Nov 2018, In : Journal of Investigative Dermatology.

    Research output: Contribution to journalArticle

    Skin Diseases
    Skin
    Phenotype
    Therapeutics
    transglutaminase 1
    5 Citations (Scopus)

    Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations.

    Gruber, R., Rainer, G., Weiss, A., Udvardi, A., Thiele, H., Eckl, K-M. & Schupart, R., 17 Jan 2017, In : British Journal of Dermatology. 176, 4, p. 1068-1073

    Research output: Contribution to journalArticle

    Ichthyosis
    Collodion
    Siblings
    Mutation
    Exfoliative Dermatitis
    52 Citations (Scopus)

    Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.

    Ammann, S., Schulz, A., Krageloh-Mann, I., Dieckmann, NM., Niethammer, K., Fuchs, S., Eckl, K-M., Plank, R., Werner, R., Altmuller, J., Thiele, H., Nurnberg, P., Bank, J., Strauss, A., von Bernuth, H., Zur Stadt, U., Grieve, S., Griffiths, GM., Lehmberg, K., Hennies, HC. & 1 others, Ehl, S., 7 Jan 2016, In : Blood. 127, 8, p. 997-100

    Research output: Contribution to journalArticle

    Adaptor Protein Complex 3
    Hermanski-Pudlak Syndrome
    Albinism
    Seizures
    Mutation
    2 Citations (Scopus)

    Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA.

    Moosbrugger-Martinz, V., Jalili, A., Schossig, AS., Jahn-Bassler, K., Zschocke, J., Schmuth, M., Stingl, G., Eckl, K-M., Hennies, HC. & Gruber, R., 15 Mar 2015, In : British Journal of Dermatology. 172, 6, p. 1628-1632

    Research output: Contribution to journalArticle

    Ichthyosis
    Cystatin A
    Mutation
    Netherton Syndrome
    Exfoliative Dermatitis