These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

196 related articles for article (PubMed ID: 12943669)

  • 1. A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa.
    Scaturro M; Posteraro P; Mastrogiacomo A; Zaccaria ML; De Luca N; Mazzanti C; Zambruno G; Castiglia D
    Biochem Biophys Res Commun; 2003 Sep; 309(1):96-103. PubMed ID: 12943669
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa.
    Jeon IK; Kim SE; Kim SC
    J Dermatol; 2014 Apr; 41(4):322-4. PubMed ID: 24533970
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa.
    Posteraro P; De Luca N; Meneguzzi G; El Hachem M; Angelo C; Gobello T; Tadini G; Zambruno G; Castiglia D
    J Invest Dermatol; 2004 Oct; 123(4):639-48. PubMed ID: 15373767
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging.
    Gache Y; Allegra M; Bodemer C; Pisani-Spadafora A; de Prost Y; Ortonne JP; Meneguzzi G
    Hum Mol Genet; 2001 Oct; 10(21):2453-61. PubMed ID: 11689492
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Reduced expression of the epithelial adhesion ligand laminin 5 in the skin causes intradermal tissue separation.
    Spirito F; Chavanas S; Prost-Squarcioni C; Pulkkinen L; Fraitag S; Bodemer C; Ortonne JP; Meneguzzi G
    J Biol Chem; 2001 Jun; 276(22):18828-35. PubMed ID: 11279058
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa.
    Posteraro P; Sorvillo S; Gagnoux-Palacios L; Angelo C; Paradisi M; Meneguzzi G; Castiglia D; Zambruno G
    Biochem Biophys Res Commun; 1998 Feb; 243(3):758-64. PubMed ID: 9501007
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.
    Pulkkinen L; Christiano AM; Airenne T; Haakana H; Tryggvason K; Uitto J
    Nat Genet; 1994 Mar; 6(3):293-7. PubMed ID: 8012393
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.
    Kivirikko S; McGrath JA; Baudoin C; Aberdam D; Ciatti S; Dunnill MG; McMillan JR; Eady RA; Ortonne JP; Meneguzzi G
    Hum Mol Genet; 1995 May; 4(5):959-62. PubMed ID: 7633458
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa.
    Vidal F; Baudoin C; Miquel C; Galliano MF; Christiano AM; Uitto J; Ortonne JP; Meneguzzi G
    Genomics; 1995 Nov; 30(2):273-80. PubMed ID: 8586427
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition.
    Castiglia D; Posteraro P; Spirito F; Pinola M; Angelo C; Puddu P; Meneguzzi G; Zambruno G
    J Invest Dermatol; 2001 Sep; 117(3):731-9. PubMed ID: 11564184
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Lack of K140 immunoreactivity in junctional epidermolysis bullosa skin and keratinocytes associates with misfolded laminin epidermal growth factor-like motif 2 of the β3 short arm.
    Condorelli AG; Fortugno P; Cianfarani F; Proto V; Di Zenzo G; Didona B; Zambruno G; Castiglia D
    Br J Dermatol; 2018 Jun; 178(6):1416-1422. PubMed ID: 28561256
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Gentamicin induces
    Lincoln V; Cogan J; Hou Y; Hirsch M; Hao M; Alexeev V; De Luca M; De Rosa L; Bauer JW; Woodley DT; Chen M
    Proc Natl Acad Sci U S A; 2018 Jul; 115(28):E6536-E6545. PubMed ID: 29946029
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A truncating mutation in the laminin-332α chain highlights the role of the LG45 proteolytic domain in regulating keratinocyte adhesion and migration.
    Di Zenzo G; El Hachem M; Diociaiuti A; Boldrini R; Calabresi V; Cianfarani F; Fortugno P; Piccinni E; Zambruno G; Castiglia D
    Br J Dermatol; 2014 May; 170(5):1056-64. PubMed ID: 24387836
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.
    Christiano AM; Pulkkinen L; Eady RA; Uitto J
    J Invest Dermatol; 1996 Apr; 106(4):775-7. PubMed ID: 8618020
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa.
    Pulkkinen L; Christiano AM; Gerecke D; Wagman DW; Burgeson RE; Pittelkow MR; Uitto J
    Genomics; 1994 Nov; 24(2):357-60. PubMed ID: 7698759
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.
    Yuen WY; Lemmink HH; van Dijk-Bos KK; Sinke RJ; Jonkman MF
    Br J Dermatol; 2011 Dec; 165(6):1314-22. PubMed ID: 21801158
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Compound heterozygosity for nonsense ans missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.
    McGarth JA; Christiano AM; Pulkkinen L; Eady RA; Uitto J
    J Invest Dermatol; 1996 May; 106(5):1157-9. PubMed ID: 8618058
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Extent of laminin-5 assembly and secretion effect junctional epidermolysis bullosa phenotype.
    Matsui C; Pereira P; Wang CK; Nelson CF; Kutzkey T; Lanigan C; Woodley D; Morohashi M; Welsh EA; Hoeffler WK
    J Exp Med; 1998 Apr; 187(8):1273-83. PubMed ID: 9547338
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.
    McGrath JA; Ashton GH; Mellerio JE; Salas-Alanis JC; Swensson O; McMillan JR; Eady RA
    J Invest Dermatol; 1999 Sep; 113(3):314-21. PubMed ID: 10469327
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular analysis of the human laminin alpha3a chain gene (LAMA3a): a strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa.
    Pulkkinen L; Cserhalmi-Friedman PB; Tang M; Ryan MC; Uitto J; Christiano AM
    Lab Invest; 1998 Sep; 78(9):1067-76. PubMed ID: 9759651
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.