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Journal Abstract Search

206 related items for PubMed ID: 8869029

  • 1. Increased expression of type VI collagen genes in cutis laxa fibroblasts.
    Hatamochi A, Arakawa M, Mori K, Mori Y, Ueki H, Yoshioka H.
    J Dermatol Sci; 1996 Feb; 11(2):97-103. PubMed ID: 8869029
    [Abstract] [Full Text] [Related]

  • 2. Collagen metabolism in cutis laxa fibroblasts: increased collagenase gene expression associated with unaltered expression of type I and type III collagen.
    Hatamochi A, Wada T, Takeda K, Ueki H, Kawano S, Terada K, Morita T.
    J Invest Dermatol; 1991 Sep; 97(3):483-7. PubMed ID: 1651970
    [Abstract] [Full Text] [Related]

  • 3. Autosomal recessive cutis laxa syndrome. A case report.
    Jung K, Ueberham U, Hausser I, Bosler K, John B, Linse R.
    Acta Derm Venereol; 1996 Jul; 76(4):298-301. PubMed ID: 8869689
    [Abstract] [Full Text] [Related]

  • 4. Heterogeneity of elastin expression in cutis laxa fibroblast strains.
    Sephel GC, Byers PH, Holbrook KA, Davidson JM.
    J Invest Dermatol; 1989 Jul; 93(1):147-53. PubMed ID: 2745999
    [Abstract] [Full Text] [Related]

  • 5. Cutis laxa: reduced elastin gene expression in skin fibroblast cultures as determined by hybridizations with a homologous cDNA and an exon 1-specific oligonucleotide.
    Olsen DR, Fazio MJ, Shamban AT, Rosenbloom J, Uitto J.
    J Biol Chem; 1988 May 15; 263(14):6465-7. PubMed ID: 3360789
    [Abstract] [Full Text] [Related]

  • 6. Elastin production and degradation in cutis laxa acquisita.
    Fornieri C, Quaglino D, Lungarella G, Cavarra E, Tiozzo R, Giro MG, Canciani M, Davidson JM, Ronchetti IP.
    J Invest Dermatol; 1994 Oct 15; 103(4):583-8. PubMed ID: 7930686
    [Abstract] [Full Text] [Related]

  • 7. A disease with features of cutis laxa and Ehlers-Danlos syndrome. Report of a mother and daughter.
    Tsukahara M, Shinkai H, Asagami C, Eguchi T, Kajii T.
    Hum Genet; 1988 Jan 15; 78(1):9-12. PubMed ID: 3338795
    [Abstract] [Full Text] [Related]

  • 8. Decreased type VI collagen gene expression in cultured Werner's syndrome fibroblasts.
    Hatamochi A, Mori K, Takeda K, Arakawa M, Ueki H, Yoshioka H.
    J Invest Dermatol; 1993 Jun 15; 100(6):771-4. PubMed ID: 8496616
    [Abstract] [Full Text] [Related]

  • 9. Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.
    Graul-Neumann LM, Hausser I, Essayie M, Rauch A, Kraus C.
    Am J Med Genet A; 2008 Apr 15; 146A(8):977-83. PubMed ID: 18348261
    [Abstract] [Full Text] [Related]

  • 10. Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.
    Fischer B, Callewaert B, Schröter P, Coucke PJ, Schlack C, Ott CE, Morroni M, Homann W, Mundlos S, Morava E, Ficcadenti A, Kornak U.
    Mol Genet Metab; 2014 Aug 15; 112(4):310-6. PubMed ID: 24913064
    [Abstract] [Full Text] [Related]

  • 11. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
    Fischer B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, Kayserili H, Alanay Y, Tantcheva-Poor I, Mangold E, Daumer-Haas C, Phadke S, Peirano RI, Heusel J, Desphande C, Gupta N, Nanda A, Felix E, Berry-Kravis E, Kabra M, Wevers RA, van Maldergem L, Mundlos S, Morava E, Kornak U.
    Hum Genet; 2012 Nov 15; 131(11):1761-73. PubMed ID: 22773132
    [Abstract] [Full Text] [Related]

  • 12. Characterization of a type VI collagen-related Mr-140 000 protein from cutis-laxa fibroblasts in culture.
    Crawford SW, Featherstone JA, Holbrook K, Yong SL, Bornstein P, Sage H.
    Biochem J; 1985 Apr 15; 227(2):491-502. PubMed ID: 4004777
    [Abstract] [Full Text] [Related]

  • 13. X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity.
    Byers PH, Siegel RC, Holbrook KA, Narayanan AS, Bornstein P, Hall JG.
    N Engl J Med; 1980 Jul 10; 303(2):61-5. PubMed ID: 6104292
    [Abstract] [Full Text] [Related]

  • 14. ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.
    Beyens A, Moreno-Artero E, Bodemer C, Cox H, Gezdirici A, Yilmaz Gulec E, Kahloul N, Khau Van Kien P, Ogur G, Harroche A, Vasse M, Salhi A, Symoens S, Hadj-Rabia S, Callewaert B.
    Exp Dermatol; 2019 Oct 10; 28(10):1142-1145. PubMed ID: 29952037
    [Abstract] [Full Text] [Related]

  • 15. Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.
    Hu Q, Loeys BL, Coucke PJ, De Paepe A, Mecham RP, Choi J, Davis EC, Urban Z.
    Hum Mol Genet; 2006 Dec 01; 15(23):3379-86. PubMed ID: 17035250
    [Abstract] [Full Text] [Related]

  • 16. Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
    Pottie L, Adamo CS, Beyens A, Lütke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B.
    Am J Hum Genet; 2021 Jun 03; 108(6):1095-1114. PubMed ID: 33991472
    [Abstract] [Full Text] [Related]

  • 17. Congenital cutis laxa: a case report and review of loose skin syndromes.
    Thomas WO, Moses MH, Craver RD, Galen WK.
    Ann Plast Surg; 1993 Mar 03; 30(3):252-6. PubMed ID: 8494307
    [Abstract] [Full Text] [Related]

  • 18. Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes.
    Gupta N, Phadke SR.
    Pediatr Dermatol; 2006 Mar 03; 23(3):225-30. PubMed ID: 16780467
    [Abstract] [Full Text] [Related]

  • 19. [Cutis laxa. Classification, clinical aspects and molecular defects].
    Mensing H, Krieg T, Meigel W, Braun-Falco O.
    Hautarzt; 1984 Oct 03; 35(10):506-11. PubMed ID: 6500933
    [Abstract] [Full Text] [Related]

  • 20. A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.
    Wopereis S, Morava E, Grünewald S, Mills PB, Winchester BG, Clayton P, Coucke P, Huijben KM, Wevers RA.
    Biochim Biophys Acta; 2005 Jun 30; 1741(1-2):156-64. PubMed ID: 15955459
    [Abstract] [Full Text] [Related]

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