BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

355 related articles for article (PubMed ID: 30716086)

  • 21. 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]  

  • 22. Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.
    Syx D; De Wandele I; Symoens S; De Rycke R; Hougrand O; Voermans N; De Paepe A; Malfait F
    Hum Mol Genet; 2019 Jun; 28(11):1853-1864. PubMed ID: 30668708
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
    Blackburn PR; Xu Z; Tumelty KE; Zhao RW; Monis WJ; Harris KG; Gass JM; Cousin MA; Boczek NJ; Mitkov MV; Cappel MA; Francomano CA; Parisi JE; Klee EW; Faqeih E; Alkuraya FS; Layne MD; McDonnell NB; Atwal PS
    Am J Hum Genet; 2018 Apr; 102(4):696-705. PubMed ID: 29606302
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Multifaced Roles of the αvβ3 Integrin in Ehlers-Danlos and Arterial Tortuosity Syndromes' Dermal Fibroblasts.
    Zoppi N; Chiarelli N; Ritelli M; Colombi M
    Int J Mol Sci; 2018 Mar; 19(4):. PubMed ID: 29587413
    [TBL] [Abstract][Full Text] [Related]  

  • 26. COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.
    Wenstrup RJ; Florer JB; Willing MC; Giunta C; Steinmann B; Young F; Susic M; Cole WG
    Am J Hum Genet; 2000 Jun; 66(6):1766-76. PubMed ID: 10777716
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).
    Mitchell AL; Schwarze U; Jennings JF; Byers PH
    Hum Mutat; 2009 Jun; 30(6):995-1002. PubMed ID: 19370768
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.
    Schalkwijk J; Zweers MC; Steijlen PM; Dean WB; Taylor G; van Vlijmen IM; van Haren B; Miller WL; Bristow J
    N Engl J Med; 2001 Oct; 345(16):1167-75. PubMed ID: 11642233
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Expanding the Clinical and Mutational Spectrum of Recessive
    Ritelli M; Cinquina V; Venturini M; Pezzaioli L; Formenti AM; Chiarelli N; Colombi M
    Genes (Basel); 2019 Feb; 10(2):. PubMed ID: 30759870
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between
    Lim PJ; Lindert U; Opitz L; Hausser I; Rohrbach M; Giunta C
    Genes (Basel); 2019 Jul; 10(7):. PubMed ID: 31288483
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Clinical and genetic analysis of classical Ehlers-Danlos syndrome patient caused by synonymous mutation in COL5A2.
    Ma N; Zhu Z; Liu J; Peng Y; Zhao X; Tang W; Jia Z; Xi H; Gao B; Wang H; Du J
    Mol Genet Genomic Med; 2021 May; 9(5):e1632. PubMed ID: 33834621
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Aortic Dissection in a Patient with Novel Frameshift COL5A1 Variant of Classical Ehlers-Danlos Syndrome.
    Caley L; Campar A; Mendonça T; Farinha F
    Eur J Case Rep Intern Med; 2023; 10(2):003698. PubMed ID: 36970158
    [TBL] [Abstract][Full Text] [Related]  

  • 35. COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II.
    Bouma P; Cabral WA; Cole WG; Marini JC
    J Biol Chem; 2001 Apr; 276(16):13356-64. PubMed ID: 11278977
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts.
    Chiarelli N; Zoppi N; Ritelli M; Venturini M; Capitanio D; Gelfi C; Colombi M
    Biochim Biophys Acta Mol Basis Dis; 2021 Apr; 1867(4):166051. PubMed ID: 33383104
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Skeletal muscle morphology, protein synthesis, and gene expression in Ehlers-Danlos syndrome.
    Nygaard RH; Jensen JK; Voermans NC; Heinemeier KM; Schjerling P; Holm L; Agergaard J; Mackey AL; Andersen JL; Remvig L; Kjaer M
    J Appl Physiol (1985); 2017 Aug; 123(2):482-488. PubMed ID: 28596275
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I.
    Takahara K; Schwarze U; Imamura Y; Hoffman GG; Toriello H; Smith LT; Byers PH; Greenspan DS
    Am J Hum Genet; 2002 Sep; 71(3):451-65. PubMed ID: 12145749
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 18.