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Volumn 94, Issue 3, 2014, Pages 351-352

Kindler syndrome with severe intestinal involvement: A 31-year follow-up

Author keywords

[No Author keywords available]

Indexed keywords

FERMT1 PROTEIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG; FERMT1 PROTEIN, HUMAN; TUMOR PROTEIN;

EID: 84899912591     PISSN: 00015555     EISSN: 16512057     Source Type: Journal    
DOI: 10.2340/00015555-1696     Document Type: Note
Times cited : (8)

References (10)
  • 2
    • 80054703593 scopus 로고    scopus 로고
    • Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history
    • Has C, Castiglia D, del Rio M, Diez MG, Piccinni E, Kiritsi D, et al. Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Hum Mutat 2011; 32: 1204-1212.
    • (2011) Hum Mutat , vol.32 , pp. 1204-1212
    • Has, C.1    Castiglia, D.2    del Rio, M.3    Diez, M.G.4    Piccinni, E.5    Kiritsi, D.6
  • 3
    • 0242515916 scopus 로고    scopus 로고
    • Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome
    • Jobard F, Bouadjar B, Caux F, Hadj-Rabia S, Has C, Matsuda F, et al. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Mol Genet 2003; 12: 925-935.
    • (2003) Hum Mol Genet , vol.12 , pp. 925-935
    • Jobard, F.1    Bouadjar, B.2    Caux, F.3    Hadj-Rabia, S.4    Has, C.5    Matsuda, F.6
  • 4
    • 0038389789 scopus 로고    scopus 로고
    • Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome
    • Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC, et al. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet 2003; 73: 174-187.
    • (2003) Am J Hum Genet , vol.73 , pp. 174-187
    • Siegel, D.H.1    Ashton, G.H.2    Penagos, H.G.3    Lee, J.V.4    Feiler, H.S.5    Wilhelmsen, K.C.6
  • 5
    • 36749051854 scopus 로고    scopus 로고
    • Chronic colitis due to an epithelial barrier defect: The role of kindlin-1 isoforms
    • Kern JS, Herz C, Haan E, Moore D, Nottelmann S, von Lilien T, et al. Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoforms. J Pathol 2007; 213: 462-470.
    • (2007) J Pathol , vol.213 , pp. 462-470
    • Kern, J.S.1    Herz, C.2    Haan, E.3    Moore, D.4    Nottelmann, S.5    von Lilien, T.6
  • 6
    • 33845699409 scopus 로고    scopus 로고
    • Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement
    • Sadler E, Klausegger A, Muss W, Deinsberger U, Pohla-Gubo G, Laimer M, et al. Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement. Arch Dermatology 2006; 142: 1619-1624.
    • (2006) Arch Dermatology , vol.142 , pp. 1619-1624
    • Sadler, E.1    Klausegger, A.2    Muss, W.3    Deinsberger, U.4    Pohla-Gubo, G.5    Laimer, M.6
  • 8
    • 78650679134 scopus 로고    scopus 로고
    • Expression of exon-8-skipped kindlin-1 does not compensate for defects of Kindler syndrome
    • Natsuga K, Nishie W, Shinkuma S, Nakamura H, Matsushima Y, Tatsuta A, et al. Expression of exon-8-skipped kindlin-1 does not compensate for defects of Kindler syndrome. J Dermatol Sci 2011; 61: 38-44.
    • (2011) J Dermatol Sci , vol.61 , pp. 38-44
    • Natsuga, K.1    Nishie, W.2    Shinkuma, S.3    Nakamura, H.4    Matsushima, Y.5    Tatsuta, A.6
  • 10
    • 0141993502 scopus 로고    scopus 로고
    • Characteristic immunohistochemical and ultrastructural findings indicate that Kindler's syndrome is an apoptotic skin disorder
    • Lanschuetzer CM, Muss WH, Emberger M, Pohla-Gubo G, Klausegger A, Bauer JW, et al. Characteristic immunohistochemical and ultrastructural findings indicate that Kindler's syndrome is an apoptotic skin disorder. J Cutan Pathol 2003; 30: 553-560.
    • (2003) J Cutan Pathol , vol.30 , pp. 553-560
    • Lanschuetzer, C.M.1    Muss, W.H.2    Emberger, M.3    Pohla-Gubo, G.4    Klausegger, A.5    Bauer, J.W.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.