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Journal Abstract Search

159 related items for PubMed ID: 29226984

  • 1. A novel homozygous mutation disrupting the initiation codon in the SLURP1 gene underlies mal de Meleda in a consanguineous family.
    Shah K, Nasir A, Irfanullah, Shahzad S, Khan S, Ahmad W.
    Clin Exp Dermatol; 2016 Aug; 41(6):675-679. PubMed ID: 29226984
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  • 3. A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia.
    Charfeddine C, Mokni M, Ben Mousli R, Elkares R, Bouchlaka C, Boubaker S, Ghedamsi S, Baccouche D, Ben Osman A, Dellagi K, Abdelhak S.
    Br J Dermatol; 2003 Dec; 149(6):1108-15. PubMed ID: 14674887
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  • 6. Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda.
    Zhao L, Vahlquist A, Virtanen M, Wennerstrand L, Lind LK, Lundström A, Hellström Pigg M.
    Acta Derm Venereol; 2014 Nov; 94(6):707-10. PubMed ID: 24604124
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  • 12. Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda.
    Wang T, Tang Z, Xiao T, Ren J, He S, Liu Y, Xiao S, Wang X.
    BMC Med Genomics; 2023 Jul 01; 16(1):152. PubMed ID: 37393290
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  • 13. Heterogeneity in the properties of mutant secreted lymphocyte antigen 6/urokinase receptor-related protein 1 (SLURP1) in Mal de Meleda.
    Adeyo O, Oberer M, Ploug M, Fong LG, Young SG, Beigneux AP.
    Br J Dermatol; 2015 Oct 01; 173(4):1066-9. PubMed ID: 25919322
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  • 14. Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families.
    Wajid M, Kurban M, Shimomura Y, Christiano AM.
    J Dermatol Sci; 2009 Oct 01; 56(1):27-32. PubMed ID: 19692209
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  • 15. Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region.
    Charfeddine C, Mokni M, Kassar S, Zribi H, Bouchlaka C, Boubaker S, Rebai A, Ben Osman A, Abdelhak S.
    J Hum Genet; 2006 Oct 01; 51(10):841-845. PubMed ID: 16865292
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  • 16. Abnormal keratinization and cutaneous inflammation in Mal de Meleda.
    Kudo M, Ishiura N, Tamura-Nakano M, Shimizu T, Kamata M, Akasaka E, Nakano H, Okuma Y, Tada Y, Okochi H, Tamaki T.
    J Dermatol; 2020 May 01; 47(5):554-558. PubMed ID: 32157724
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  • 17. A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype.
    Gruber R, Hennies HC, Romani N, Schmuth M.
    Arch Dermatol; 2011 Jun 01; 147(6):748-50. PubMed ID: 21690549
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  • 18. Comment on Zhao et al. "Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda".
    Nellen RG, Steijlen PM, van Geel M, van Steensel MA.
    Acta Derm Venereol; 2015 Nov 01; 95(8):1034-5. PubMed ID: 26139149
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  • 19. A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda.
    Yerebakan O, Hu G, Yilmaz E, Celebi JT.
    Clin Exp Dermatol; 2003 Sep 01; 28(5):542-4. PubMed ID: 12950349
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  • 20. A novel mutation in SLURP1 in patients with mal de Meleda from the Indian subcontinent.
    Nellen RG, Claessens T, Subramaniam R, Betkerur J, Prashanth A, Steijlen PM, van Geel M.
    J Dermatol Sci; 2015 Oct 01; 80(1):76-8. PubMed ID: 26254200
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