BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

183 related articles for article (PubMed ID: 34740257)

  • 1. Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome.
    Machol K; Polak U; Weisz-Hubshman M; Song IW; Chen S; Jiang MM; Chen-Evenson Y; Weis MAE; Keene DR; Eyre DR; Lee BH
    Hum Mol Genet; 2022 Apr; 31(8):1325-1335. PubMed ID: 34740257
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Altered dermal fibroblast behavior in a collagen V haploinsufficient murine model of classic Ehlers-Danlos syndrome.
    DeNigris J; Yao Q; Birk EK; Birk DE
    Connect Tissue Res; 2016; 57(1):1-9. PubMed ID: 26713685
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Collagen V haploinsufficiency in a murine model of classic Ehlers-Danlos syndrome is associated with deficient structural and mechanical healing in tendons.
    Johnston JM; Connizzo BK; Shetye SS; Robinson KA; Huegel J; Rodriguez AB; Sun M; Adams SM; Birk DE; Soslowsky LJ
    J Orthop Res; 2017 Dec; 35(12):2707-2715. PubMed ID: 28387435
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages.
    Wenstrup RJ; Florer JB; Davidson JM; Phillips CL; Pfeiffer BJ; Menezes DW; Chervoneva I; Birk DE
    J Biol Chem; 2006 May; 281(18):12888-95. PubMed ID: 16492673
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Haploinsufficiency of Col5a1 causes intrinsic lung and respiratory changes in a mouse model of classical Ehlers-Danlos syndrome.
    Fett J; Dimori M; Carroll JL; Morello R
    Physiol Rep; 2022 Apr; 10(8):e15275. PubMed ID: 35439366
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.
    Malfait F; Wenstrup RJ; De Paepe A
    Genet Med; 2010 Oct; 12(10):597-605. PubMed ID: 20847697
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Structural abnormalities of the cornea and lid resulting from collagen V mutations.
    Segev F; Héon E; Cole WG; Wenstrup RJ; Young F; Slomovic AR; Rootman DS; Whitaker-Menezes D; Chervoneva I; Birk DE
    Invest Ophthalmol Vis Sci; 2006 Feb; 47(2):565-73. PubMed ID: 16431952
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Targeted deletion of collagen V in tendons and ligaments results in a classic Ehlers-Danlos syndrome joint phenotype.
    Sun M; Connizzo BK; Adams SM; Freedman BR; Wenstrup RJ; Soslowsky LJ; Birk DE
    Am J Pathol; 2015 May; 185(5):1436-47. PubMed ID: 25797646
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
    Ritelli M; Dordoni C; Venturini M; Chiarelli N; Quinzani S; Traversa M; Zoppi N; Vascellaro A; Wischmeijer A; Manfredini E; Garavelli L; Calzavara-Pinton P; Colombi M
    Orphanet J Rare Dis; 2013 Apr; 8():58. PubMed ID: 23587214
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.
    Malfait F; Coucke P; Symoens S; Loeys B; Nuytinck L; De Paepe A
    Hum Mutat; 2005 Jan; 25(1):28-37. PubMed ID: 15580559
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular genetics in classic Ehlers-Danlos syndrome.
    Malfait F; De Paepe A
    Am J Med Genet C Semin Med Genet; 2005 Nov; 139C(1):17-23. PubMed ID: 16278879
    [TBL] [Abstract][Full Text] [Related]  

  • 12. COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.
    Symoens S; Malfait F; Renard M; André J; Hausser I; Loeys B; Coucke P; De Paepe A
    Hum Mutat; 2009 Feb; 30(2):E395-403. PubMed ID: 18972565
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype.
    Park AC; Phillips CL; Pfeiffer FM; Roenneburg DA; Kernien JF; Adams SM; Davidson JM; Birk DE; Greenspan DS
    Am J Pathol; 2015 Jul; 185(7):2000-11. PubMed ID: 25987251
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Regulation of collagen fibril nucleation and initial fibril assembly involves coordinate interactions with collagens V and XI in developing tendon.
    Wenstrup RJ; Smith SM; Florer JB; Zhang G; Beason DP; Seegmiller RE; Soslowsky LJ; Birk DE
    J Biol Chem; 2011 Jun; 286(23):20455-65. PubMed ID: 21467034
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts.
    Chiarelli N; Carini G; Zoppi N; Ritelli M; Colombi M
    PLoS One; 2019; 14(2):e0211647. PubMed ID: 30716086
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of Two Independent
    Bauer A; Bateman JF; Lamandé SR; Hanssen E; Kirejczyk SGM; Yee M; Ramiche A; Jagannathan V; Welle M; Leeb T; Bateman FL
    Genes (Basel); 2019 Sep; 10(10):. PubMed ID: 31546637
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Independent
    Kiener S; Apostolopoulos N; Schissler J; Hass PK; Leuthard F; Jagannathan V; Schuppisser C; Soto S; Welle M; Mayer U; Leeb T; Fischer NM; Kaessmeyer S
    Genes (Basel); 2022 Apr; 13(5):. PubMed ID: 35627182
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.
    Symoens S; Syx D; Malfait F; Callewaert B; De Backer J; Vanakker O; Coucke P; De Paepe A
    Hum Mutat; 2012 Oct; 33(10):1485-93. PubMed ID: 22696272
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Classic Ehlers-Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1.
    Chiu WC; Chen SH; Lo MC; Kuo YT
    BMC Pediatr; 2020 Oct; 20(1):495. PubMed ID: 33109150
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement.
    Symoens S; Malfait F; Vlummens P; Hermanns-Lê T; Syx D; De Paepe A
    PLoS One; 2011; 6(5):e20121. PubMed ID: 21611149
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.