BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

188 related articles for article (PubMed ID: 35439366)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome.
    Errichiello E; Malara A; Grimod G; Avolio L; Balduini A; Zuffardi O
    Eur J Med Genet; 2021 Jan; 64(1):104099. PubMed ID: 33189937
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.
    Lavanya K; Mahtani K; Abbott J; Jain A; Selvam P; Atwal H; Farres H; Atwal PS
    Am J Med Genet A; 2022 Jul; 188(7):2192-2197. PubMed ID: 35396906
    [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. Pain-related behaviors and abnormal cutaneous innervation in a murine model of classical Ehlers-Danlos syndrome.
    Syx D; Miller RE; Obeidat AM; Tran PB; Vroman R; Malfait Z; Miller RJ; Malfait F; Malfait AM
    Pain; 2020 Oct; 161(10):2274-2283. PubMed ID: 32483055
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing.
    Ritelli M; Cinquina V; Venturini M; Colombi M
    Mol Genet Genomic Med; 2020 Oct; 8(10):e1422. PubMed ID: 32720758
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1.
    Kuroda Y; Ohashi I; Naruto T; Ida K; Enomoto Y; Saito T; Nagai JI; Kurosawa K
    Congenit Anom (Kyoto); 2018 Nov; 58(6):191-193. PubMed ID: 29520887
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.
    Monroe GR; Harakalova M; van der Crabben SN; Majoor-Krakauer D; Bertoli-Avella AM; Moll FL; Oranen BI; Dooijes D; Vink A; Knoers NV; Maugeri A; Pals G; Nijman IJ; van Haaften G; Baas AF
    Am J Med Genet A; 2015 Jun; 167(6):1196-203. PubMed ID: 25845371
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Gonosomal Mosaicism for a Novel
    Micale L; Foiadelli T; Russo F; Cinque L; Bassanese F; Granatiero M; Fusco C; Savasta S; Castori M
    Genes (Basel); 2021 Nov; 12(12):. PubMed ID: 34946877
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.