BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

270 related articles for article (PubMed ID: 16492673)

  • 21. 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]  

  • 22. 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]  

  • 23. 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]  

  • 24. An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
    Nicholls AC; Oliver JE; McCarron S; Harrison JB; Greenspan DS; Pope FM
    J Med Genet; 1996 Nov; 33(11):940-6. PubMed ID: 8950675
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Deficits in Col5a2 Expression Result in Novel Skin and Adipose Abnormalities and Predisposition to Aortic Aneurysms and Dissections.
    Park AC; Phan N; Massoudi D; Liu Z; Kernien JF; Adams SM; Davidson JM; Birk DE; Liu B; Greenspan DS
    Am J Pathol; 2017 Oct; 187(10):2300-2311. PubMed ID: 28734943
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.
    Michalickova K; Susic M; Willing MC; Wenstrup RJ; Cole WG
    Hum Mol Genet; 1998 Feb; 7(2):249-55. PubMed ID: 9425231
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Collagen V insufficiency in a mouse model for Ehlers Danlos-syndrome affects viscoelastic biomechanical properties explaining thin and brittle corneas.
    Kling S; Torres-Netto EA; Abdshahzadeh H; Espana EM; Hafezi F
    Sci Rep; 2021 Aug; 11(1):17362. PubMed ID: 34462473
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. 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]  

  • 30. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.
    De Paepe A; Nuytinck L; Hausser I; Anton-Lamprecht I; Naeyaert JM
    Am J Hum Genet; 1997 Mar; 60(3):547-54. PubMed ID: 9042913
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. 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]  

  • 33. 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]  

  • 34. Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in
    Lin Z; Zeng J; Wang X
    Biosci Rep; 2019 Jul; 39(7):. PubMed ID: 31239369
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Rescue of migratory defects of Ehlers-Danlos syndrome fibroblasts in vitro by type V collagen but not insulin-like binding protein-1.
    Viglio S; Zoppi N; Sangalli A; Gallanti A; Barlati S; Mottes M; Colombi M; Valli M
    J Invest Dermatol; 2008 Aug; 128(8):1915-9. PubMed ID: 18305566
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).
    Wenstrup RJ; Langland GT; Willing MC; D'Souza VN; Cole WG
    Hum Mol Genet; 1996 Nov; 5(11):1733-6. PubMed ID: 8923000
    [TBL] [Abstract][Full Text] [Related]  

  • 37. In vivo evidence for a bridging role of a collagen V subtype at the epidermis-dermis interface.
    Bonod-Bidaud C; Roulet M; Hansen U; Elsheikh A; Malbouyres M; Ricard-Blum S; Faye C; Vaganay E; Rousselle P; Ruggiero F
    J Invest Dermatol; 2012 Jul; 132(7):1841-9. PubMed ID: 22437311
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Collagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model.
    Sun M; Chen S; Adams SM; Florer JB; Liu H; Kao WW; Wenstrup RJ; Birk DE
    J Cell Sci; 2011 Dec; 124(Pt 23):4096-105. PubMed ID: 22159420
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A frameshift variant in the COL5A1 gene in a cat with Ehlers-Danlos syndrome.
    Spycher M; Bauer A; Jagannathan V; Frizzi M; De Lucia M; Leeb T
    Anim Genet; 2018 Dec; 49(6):641-644. PubMed ID: 30246406
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.
    Toriello HV; Glover TW; Takahara K; Byers PH; Miller DE; Higgins JV; Greenspan DS
    Nat Genet; 1996 Jul; 13(3):361-5. PubMed ID: 8673139
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.