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 *

387 related articles for article (PubMed ID: 29346445)

  • 21. The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
    Frank M; Albuisson J; Ranque B; Golmard L; Mazzella JM; Bal-Theoleyre L; Fauret AL; Mirault T; Denarié N; Mousseaux E; Boutouyrie P; Fiessinger JN; Emmerich J; Messas E; Jeunemaitre X
    Eur J Hum Genet; 2015 Dec; 23(12):1657-64. PubMed ID: 25758994
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations.
    Drera B; Zoppi N; Ritelli M; Tadini G; Venturini M; Wischmeijer A; Nicolazzi MA; Musumeci A; Penco S; Buscemi L; Crivelli S; Danesino C; Clementi M; Calzavara-Pinton P; Viglio S; Valli M; Barlati S; Colombi M
    J Dermatol Sci; 2011 Dec; 64(3):237-40. PubMed ID: 22019127
    [No Abstract]   [Full Text] [Related]  

  • 23. Ehlers-Danlos syndrome type IV is associated with a novel G984R COL3A1 mutation.
    Deng Y; Wei S; Hu S; Chen J; Tan Z; Yang Y
    Mol Med Rep; 2015 Jul; 12(1):1119-24. PubMed ID: 25776230
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.
    Ruscitti F; Trevisan L; Rosti G; Gotta F; Cianflone A; Geroldi A; Origone P; Pichiecchio A; Viglio S; Iascone M; Mandich P
    Mol Genet Genomic Med; 2021 Sep; 9(9):e1753. PubMed ID: 34318601
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers-Danlos syndrome.
    Okita H; Ikeda Y; Mitsuhashi Y; Namikawa H; Kitamura Y; Hamasaki Y; Yamazaki S; Hatamochi A
    Arch Dermatol Res; 2010 Jul; 302(5):395-9. PubMed ID: 19543901
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family.
    Cortini F; Marinelli B; Romi S; Seresini A; Pesatori AC; Seia M; Montano N; Bassotti A
    Vasc Endovascular Surg; 2017 Apr; 51(3):141-145. PubMed ID: 28183226
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Vascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding.
    Mizuno K; Boudko S; Engel J; Bächinger HP
    J Biol Chem; 2013 Jun; 288(26):19166-76. PubMed ID: 23645670
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A novel mutation screening system for Ehlers-Danlos Syndrome, vascular type by high-resolution melting curve analysis in combination with small amplicon genotyping using genomic DNA.
    Naing BT; Watanabe A; Shimada T
    Biochem Biophys Res Commun; 2011 Feb; 405(3):368-72. PubMed ID: 21219851
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A new COL3A1 mutation in Ehlers-Danlos syndrome type IV.
    Eder J; Laccone F; Rohrbach M; Giunta C; Aumayr K; Reichel C; Trautinger F
    Exp Dermatol; 2013 Mar; 22(3):231-4. PubMed ID: 23489429
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Two closely spaced missense COL3A1 variants in cis cause vascular Ehlers-Danlos syndrome in one large Chinese family.
    Liang M; Chen C; Dai Y; Chang Y; Gao Y
    J Cell Mol Med; 2022 Jan; 26(1):144-150. PubMed ID: 34845833
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Vascular Ehlers-Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its complications.
    Beridze N; Frishman WH
    Cardiol Rev; 2012; 20(1):4-7. PubMed ID: 22143279
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Nonsyndromic arteriopathy and aortopathy and vascular Ehlers-Danlos syndrome causing COL3A1 variants.
    Yagi H; Takeda N; Amiya E; Akiyama N; Chang H; Ishiura H; Sato J; Akazawa H; Morita H; Komuro I
    Am J Med Genet A; 2022 Sep; 188(9):2777-2782. PubMed ID: 35543214
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel
    Ritelli M; Chiarelli N; Zoppi N; Dordoni C; Quinzani S; Traversa M; Venturini M; Calzavara-Pinton P; Colombi M
    Mol Genet Metab Rep; 2015 Mar; 2():1-15. PubMed ID: 28649518
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Case report: Mild phenotype of a patient with vascular Ehlers-Danlos syndrome and
    Hayashi S; Yamaguchi T; Kosho T; Igawa K
    Front Genet; 2022; 13():1017446. PubMed ID: 36468001
    [No Abstract]   [Full Text] [Related]  

  • 35. Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix.
    Chiodo AA; Sillence DO; Cole WG; Bateman JF
    Biochem J; 1995 Nov; 311 ( Pt 3)(Pt 3):939-43. PubMed ID: 7487954
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report.
    Wan T; Ye J; Wu P; Cheng M; Jiang B; Wang H; Li J; Ma J; Wang L; Huang X
    BMC Pulm Med; 2020 May; 20(1):149. PubMed ID: 32471395
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis.
    Shalhub S; Byers PH; Hicks KL; Coleman DM; Davis FM; De Caridi G; Weaver KN; Miller EM; Schermerhorn ML; Shean K; Oderich G; Ribeiro M; Nishikawa C; Charlton-Ouw K; Behrendt CA; Debus ES; von Kodolitsch Y; Zarkowsky D; Powell RJ; Pepin M; Milewicz DM; Regalado ES; Lawrence PF; Woo K
    J Vasc Surg; 2020 Jan; 71(1):149-157. PubMed ID: 31353273
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome.
    Bowen CJ; Calderón Giadrosic JF; Burger Z; Rykiel G; Davis EC; Helmers MR; Benke K; Gallo MacFarlane E; Dietz HC
    J Clin Invest; 2020 Feb; 130(2):686-698. PubMed ID: 31639107
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7).
    Seidler DG; Faiyaz-Ul-Haque M; Hansen U; Yip GW; Zaidi SH; Teebi AS; Kiesel L; Götte M
    J Mol Med (Berl); 2006 Jul; 84(7):583-94. PubMed ID: 16583246
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes.
    Chiarelli N; Ritelli M; Zoppi N; Colombi M
    Genes (Basel); 2019 Aug; 10(8):. PubMed ID: 31409039
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 20.