BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

145 related articles for article (PubMed ID: 33823521)

  • 1. Drug Development for Target Ribosomal Protein rpL35/uL29 for Repair of LAMB3R635X in Rare Skin Disease Epidermolysis Bullosa.
    Rathner A; Rathner P; Friedrich A; Wießner M; Kitzler CM; Schernthaner J; Karl T; Krauß J; Lottspeich F; Mewes W; Hintner H; Bauer JW; Breitenbach M; Müller N; Breitenbach-Koller H; von Hagen J
    Skin Pharmacol Physiol; 2021; 34(4):167-182. PubMed ID: 33823521
    [TBL] [Abstract][Full Text] [Related]  

  • 2. En Route to Targeted Ribosome Editing to Replenish Skin Anchor Protein LAMB3 in Junctional Epidermolysis Bullosa.
    Wimmer B; Friedrich A; Poeltner K; Edobor G; Mosshammer C; Temaj G; Rathner A; Karl T; Krauss J; von Hagen J; Gerner C; Breitenbach M; Hintner H; Bauer JW; Breitenbach-Koller H
    JID Innov; 2024 Jan; 4(1):100240. PubMed ID: 38282649
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Herlitz junctional epidermolysis bullosa.
    Laimer M; Lanschuetzer CM; Diem A; Bauer JW
    Dermatol Clin; 2010 Jan; 28(1):55-60. PubMed ID: 19945616
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Gentamicin Induces Laminin 332 and Improves Wound Healing in Junctional Epidermolysis Bullosa Patients with Nonsense Mutations.
    Kwong A; Cogan J; Hou Y; Antaya R; Hao M; Kim G; Lincoln V; Chen Q; Woodley DT; Chen M
    Mol Ther; 2020 May; 28(5):1327-1338. PubMed ID: 32222156
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
    Floeth M; Bruckner-Tuderman L
    Am J Hum Genet; 1999 Dec; 65(6):1530-7. PubMed ID: 10577906
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.
    Nakano A; Chao SC; Pulkkinen L; Murrell D; Bruckner-Tuderman L; Pfendner E; Uitto J
    Hum Genet; 2002 Jan; 110(1):41-51. PubMed ID: 11810295
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Laminin 5 genes and Herlitz junctional epidermolysis bullosa: novel mutations and polymorphisms in the LAMB3 and LAMC2 genes. Mutations in brief no. 190. Online.
    Kon A; Pulkkinen L; Hara M; Tamai K; Tagami H; Hashimoto I; Uitto J
    Hum Mutat; 1998; 12(4):288. PubMed ID: 10660342
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Molecular diagnostics facilitate distinction between lethal and non-lethal subtypes of junctional epidermolysis bullosa: a case report and review of the literature.
    Bauer J; Schumann H; Sönnichsen K; Tomaske M; Bosk A; Bruckner-Tuderman L; Rassner G; Garbe C
    Eur J Pediatr; 2002 Dec; 161(12):672-9. PubMed ID: 12447669
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Animal models for skin blistering conditions: absence of laminin 5 causes hereditary junctional mechanobullous disease in the Belgian horse.
    Spirito F; Charlesworth A; Linder K; Ortonne JP; Baird J; Meneguzzi G
    J Invest Dermatol; 2002 Sep; 119(3):684-91. PubMed ID: 12230513
    [TBL] [Abstract][Full Text] [Related]  

  • 16. CRISPR/Cas9-Mediated In Situ Correction of LAMB3 Gene in Keratinocytes Derived from a Junctional Epidermolysis Bullosa Patient.
    Benati D; Miselli F; Cocchiarella F; Patrizi C; Carretero M; Baldassarri S; Ammendola V; Has C; Colloca S; Del Rio M; Larcher F; Recchia A
    Mol Ther; 2018 Nov; 26(11):2592-2603. PubMed ID: 30122422
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.
    Takizawa Y; Shimizu H; Pulkkinen L; Hiraoka Y; McGrath JA; Suzumori K; Aiso S; Uitto J; Nishikawa T
    J Invest Dermatol; 1998 Feb; 110(2):174-8. PubMed ID: 9457915
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India.
    Yenamandra VK; Vellarikkal SK; Kumar M; Chowdhury MR; Jayarajan R; Verma A; Scaria V; Sivasubbu S; Ray SB; Dinda AK; Kabra M; Kaur P; Sharma VK; Sethuraman G
    J Dermatol Sci; 2017 Apr; 86(1):30-36. PubMed ID: 28087116
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.
    Mühle C; Jiang QJ; Charlesworth A; Bruckner-Tuderman L; Meneguzzi G; Schneider H
    Hum Genet; 2005 Jan; 116(1-2):33-42. PubMed ID: 15538630
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.