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 *

231 related articles for article (PubMed ID: 31218159)

  • 1. Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen.
    Lu Y; Zhang S; Wang Y; Ren X; Han J
    Intractable Rare Dis Res; 2019 May; 8(2):98-107. PubMed ID: 31218159
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.
    Malfait F; Symoens S; De Backer J; Hermanns-Lê T; Sakalihasan N; Lapière CM; Coucke P; De Paepe A
    Hum Mutat; 2007 Apr; 28(4):387-95. PubMed ID: 17211858
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta.
    Pace JM; Wiese M; Drenguis AS; Kuznetsova N; Leikin S; Schwarze U; Chen D; Mooney SH; Unger S; Byers PH
    J Biol Chem; 2008 Jun; 283(23):16061-7. PubMed ID: 18375391
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII.
    Raff ML; Craigen WJ; Smith LT; Keene DR; Byers PH
    Hum Genet; 2000 Jan; 106(1):19-28. PubMed ID: 10982177
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
    Cabral WA; Makareeva E; Letocha AD; Scribanu N; Fertala A; Steplewski A; Keene DR; Persikov AV; Leikin S; Marini JC
    Hum Mutat; 2007 Apr; 28(4):396-405. PubMed ID: 17206620
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders.
    Persikov AV; Pillitteri RJ; Amin P; Schwarze U; Byers PH; Brodsky B
    Hum Mutat; 2004 Oct; 24(4):330-7. PubMed ID: 15365990
    [TBL] [Abstract][Full Text] [Related]  

  • 7. An in vitro model to evaluate the properties of matrices produced by fibroblasts from osteogenesis imperfecta and Ehlers-Danlos Syndrome patients.
    Micha D; Pals G; Smit TH; Ghazanfari S
    Biochem Biophys Res Commun; 2020 Jan; 521(2):310-317. PubMed ID: 31668813
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta.
    Ackermann AM; Levine MA
    Am J Med Genet A; 2017 Jul; 173(7):1907-1912. PubMed ID: 28436160
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III.
    Augusciak-Duma A; Witecka J; Sieron AL; Janeczko M; Pietrzyk JJ; Ochman K; Galicka A; Borszewska-Kornacka MK; Pilch J; Jakubowska-Pietkiewicz E
    Acta Biochim Pol; 2018; 65(1):79-86. PubMed ID: 29543922
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.
    Stembridge NS; Vandersteen AM; Ghali N; Sawle P; Nesbitt M; Pollitt RC; Ferguson DJ; Holden S; Elmslie F; Henderson A; Hulmes DJ; Pope FM
    Am J Med Genet A; 2015 Aug; 167A(8):1763-72. PubMed ID: 25846194
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family.
    Shi X; Lu Y; Wang Y; Zhang YA; Teng Y; Han W; Han Z; Li T; Chen M; Liu J; Fang F; Dou C; Ren X; Han J
    Intractable Rare Dis Res; 2015 Feb; 4(1):49-53. PubMed ID: 25674388
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome.
    Chen F; Guo R; Itoh S; Moreno L; Rosenthal E; Zappitelli T; Zirngibl RA; Flenniken A; Cole W; Grynpas M; Osborne LR; Vogel W; Adamson L; Rossant J; Aubin JE
    J Bone Miner Res; 2014 Jun; 29(6):1412-23. PubMed ID: 24443344
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.
    Carr AJ; Chiodo AA; Hilton JM; Chow CW; Hockey A; Cole WG
    J Med Genet; 1994 Apr; 31(4):306-11. PubMed ID: 8071956
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel mutation in
    Budsamongkol T; Intarak N; Theerapanon T; Yodsanga S; Porntaveetus T; Shotelersuk V
    Genes Dis; 2019 Jun; 6(2):138-146. PubMed ID: 31193991
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.
    Xia XY; Li WW; Li N; Wu QY; Cui YX; Li XJ
    Mol Med Rep; 2014 Jun; 9(6):2187-90. PubMed ID: 24682174
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
    Marini JC; Forlino A; Cabral WA; Barnes AM; San Antonio JD; Milgrom S; Hyland JC; Körkkö J; Prockop DJ; De Paepe A; Coucke P; Symoens S; Glorieux FH; Roughley PJ; Lund AM; Kuurila-Svahn K; Hartikka H; Cohn DH; Krakow D; Mottes M; Schwarze U; Chen D; Yang K; Kuslich C; Troendle J; Dalgleish R; Byers PH
    Hum Mutat; 2007 Mar; 28(3):209-21. PubMed ID: 17078022
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.
    Malfait F; Symoens S; Coucke P; Nunes L; De Almeida S; De Paepe A
    J Med Genet; 2006 Jul; 43(7):e36. PubMed ID: 16816023
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype.
    Cundy T; Dray M; Delahunt J; Hald JD; Langdahl B; Li C; Szybowska M; Mohammed S; Duncan EL; McInerney-Leo AM; Wheeler PG; Roschger P; Klaushofer K; Rai J; Weis M; Eyre D; Schwarze U; Byers PH
    J Bone Miner Res; 2018 Jul; 33(7):1260-1271. PubMed ID: 29669177
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans.
    Gajko-Galicka A
    Acta Biochim Pol; 2002; 49(2):433-41. PubMed ID: 12362985
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.