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Journal Abstract Search


162 related items for PubMed ID: 37393290

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda.
    Radiono S, Pramono ZAD, Oh GGK, Surana U, Widiyani S, Danarti R.
    Int J Dermatol; 2017 Nov 01; 56(11):1161-1168. PubMed ID: 29023701
    [Abstract] [Full Text] [Related]

  • 3. Mal de Meleda in Indonesia: Mutations in the SLURP1 gene appear to be ubiquitous.
    Taylor JA, Bondavalli D, Monif M, Yap LM, Winship I.
    Australas J Dermatol; 2016 Feb 01; 57(1):e11-3. PubMed ID: 25557416
    [Abstract] [Full Text] [Related]

  • 4. 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 01; 41(6):675-679. PubMed ID: 29226984
    [Abstract] [Full Text] [Related]

  • 5. 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
    [No Abstract] [Full Text] [Related]

  • 6. Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.
    Akbar A, Prince C, Payne C, Fasham J, Ahmad W, Baple EL, Crosby AH, Harlalka GV, Gul A.
    BMC Med Genet; 2019 Aug 23; 20(1):145. PubMed ID: 31443639
    [Abstract] [Full Text] [Related]

  • 7. Identification of recurrent mutations in the ARS (component B) gene encoding SLURP-1 in two families with mal de Meleda.
    Ward KM, Yerebakan O, Yilmaz E, Celebi JT.
    J Invest Dermatol; 2003 Jan 23; 120(1):96-8. PubMed ID: 12535203
    [Abstract] [Full Text] [Related]

  • 8. 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 23; 94(6):707-10. PubMed ID: 24604124
    [Abstract] [Full Text] [Related]

  • 9. 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 23; 95(8):1034-5. PubMed ID: 26139149
    [No Abstract] [Full Text] [Related]

  • 10. SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda.
    Favre B, Plantard L, Aeschbach L, Brakch N, Christen-Zaech S, de Viragh PA, Sergeant A, Huber M, Hohl D.
    J Invest Dermatol; 2007 Feb 23; 127(2):301-8. PubMed ID: 17008884
    [Abstract] [Full Text] [Related]

  • 11. SLURP-1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene.
    Bergqvist C, Kadara H, Hamie L, Nemer G, Safi R, Karouni M, Marrouche N, Abbas O, Hasbani DJ, Kibbi AG, Nassar D, Shimomura Y, Kurban M.
    Int J Dermatol; 2018 Feb 23; 57(2):162-170. PubMed ID: 29231248
    [Abstract] [Full Text] [Related]

  • 12. A Japanese case of Mal de Meleda with SLURP1 mutation.
    Sakabe J, Kabashima-Kubo R, Kubo A, Sasaki T, Tokura Y.
    J Dermatol; 2014 Aug 23; 41(8):764-5. PubMed ID: 24985918
    [No Abstract] [Full Text] [Related]

  • 13. SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda.
    Tjiu JW, Lin PJ, Wu WH, Cheng YP, Chiu HC, Thong HY, Chiang BL, Yang WS, Jee SH.
    Br J Dermatol; 2011 Jan 23; 164(1):47-53. PubMed ID: 20854438
    [Abstract] [Full Text] [Related]

  • 14. The first Mal de Meleda case in Libya: identification of a SLURP1 mutation.
    Bchetnia M, Bozgia M, Laroussi N, Ben Brick AS, Charfeddine C, Ben Halim N, Mokni M, Boubaker MS, Abdelhak S.
    Int J Dermatol; 2015 Dec 23; 54(12):1426-8. PubMed ID: 24738704
    [No Abstract] [Full Text] [Related]

  • 15. Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene.
    Nellen RG, Steijlen PM, Hennies HC, Fischer J, Munro CS, Jonkman MF, van Steensel MA, van Geel M.
    Br J Dermatol; 2013 Jun 23; 168(6):1372-4. PubMed ID: 23290002
    [No Abstract] [Full Text] [Related]

  • 16. 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 23; 147(6):748-50. PubMed ID: 21690549
    [No Abstract] [Full Text] [Related]

  • 17. A novel mutation in SLURP1 in patients with Mal de Meleda from Turkey.
    İmren IG, Ertürk S, Çetin GO, Kaçar N.
    Int J Dermatol; 2024 Sep 23; 63(9):1263-1266. PubMed ID: 38647179
    [No Abstract] [Full Text] [Related]

  • 18. 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 23; 28(5):542-4. PubMed ID: 12950349
    [Abstract] [Full Text] [Related]

  • 19. In-silico Analyses of Disease Causing Mutations in SLURP1 Gene.
    Jafar Hussain HM, Khan R, Li C, Aftab A, Muneer I, Wahab F, Wu L, Jiang X, Xu P.
    Ann Clin Lab Sci; 2019 Nov 23; 49(6):710-721. PubMed ID: 31882421
    [Abstract] [Full Text] [Related]

  • 20. Patient with Mal de Meleda in whom a Novel Gene Mutation was Identified.
    Gurel G, Cilingir O, Kutluay O, Arslan S, Sahin S, Colgecen E.
    Eurasian J Med; 2019 Jun 23; 51(2):206-208. PubMed ID: 31258365
    [Abstract] [Full Text] [Related]


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