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Items: 32

1.

Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta.

Makareeva E, Sun G, Mirigian LS, Mertz EL, Vera JC, Espinoza NA, Yang K, Chen D, Klein TE, Byers PH, Leikin S.

PLoS One. 2018 Jul 10;13(7):e0200264. doi: 10.1371/journal.pone.0200264. eCollection 2018.

2.

P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.

Zou Y, Donkervoort S, Salo AM, Foley AR, Barnes AM, Hu Y, Makareeva E, Leach ME, Mohassel P, Dastgir J, Deardorff MA, Cohn RD, DiNonno WO, Malfait F, Lek M, Leikin S, Marini JC, Myllyharju J, Bönnemann CG.

Hum Mol Genet. 2017 Jun 15;26(12):2207-2217. doi: 10.1093/hmg/ddx110.

3.

Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.

Cabral WA, Ishikawa M, Garten M, Makareeva EN, Sargent BM, Weis M, Barnes AM, Webb EA, Shaw NJ, Ala-Kokko L, Lacbawan FL, Högler W, Leikin S, Blank PS, Zimmerberg J, Eyre DR, Yamada Y, Marini JC.

PLoS Genet. 2016 Jul 21;12(7):e1006156. doi: 10.1371/journal.pgen.1006156. eCollection 2016 Jul.

4.

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

Lindert U, Cabral WA, Ausavarat S, Tongkobpetch S, Ludin K, Barnes AM, Yeetong P, Weis M, Krabichler B, Srichomthong C, Makareeva EN, Janecke AR, Leikin S, Röthlisberger B, Rohrbach M, Kennerknecht I, Eyre DR, Suphapeetiporn K, Giunta C, Marini JC, Shotelersuk V.

Nat Commun. 2016 Jul 6;7:11920. doi: 10.1038/ncomms11920.

5.

Makings of a brittle bone: Unexpected lessons from a low protein diet study of a mouse OI model.

Mertz EL, Makareeva E, Mirigian LS, Koon KY, Perosky JE, Kozloff KM, Leikin S.

Matrix Biol. 2016 May-Jul;52-54:29-42. doi: 10.1016/j.matbio.2016.03.005. Epub 2016 Mar 31.

6.

Osteoblast Malfunction Caused by Cell Stress Response to Procollagen Misfolding in α2(I)-G610C Mouse Model of Osteogenesis Imperfecta.

Mirigian LS, Makareeva E, Mertz EL, Omari S, Roberts-Pilgrim AM, Oestreich AK, Phillips CL, Leikin S.

J Bone Miner Res. 2016 Aug;31(8):1608-1616. doi: 10.1002/jbmr.2824. Epub 2016 Apr 13.

7.

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.

Symoens S, Barnes AM, Gistelinck C, Malfait F, Guillemyn B, Steyaert W, Syx D, D'hondt S, Biervliet M, De Backer J, Witten EP, Leikin S, Makareeva E, Gillessen-Kaesbach G, Huysseune A, Vleminckx K, Willaert A, De Paepe A, Marini JC, Coucke PJ.

Am J Hum Genet. 2015 Oct 1;97(4):521-34. doi: 10.1016/j.ajhg.2015.08.009. Epub 2015 Sep 10.

8.

Pulse-chase analysis of procollagen biosynthesis by azidohomoalanine labeling.

Mirigian LS, Makareeva E, Leikin S.

Connect Tissue Res. 2014 Oct-Dec;55(5-6):403-10. doi: 10.3109/03008207.2014.959120. Epub 2014 Sep 22.

9.

Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta.

Cabral WA, Perdivara I, Weis M, Terajima M, Blissett AR, Chang W, Perosky JE, Makareeva EN, Mertz EL, Leikin S, Tomer KB, Kozloff KM, Eyre DR, Yamauchi M, Marini JC.

PLoS Genet. 2014 Jun 26;10(6):e1004465. doi: 10.1371/journal.pgen.1004465. eCollection 2014 Jun.

10.

Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations.

Barnes AM, Duncan G, Weis M, Paton W, Cabral WA, Mertz EL, Makareeva E, Gambello MJ, Lacbawan FL, Leikin S, Fertala A, Eyre DR, Bale SJ, Marini JC.

Hum Mutat. 2013 Sep;34(9):1279-88. doi: 10.1002/humu.22362. Epub 2013 Jul 8.

11.

Collagen degradation by tumor-associated trypsins.

Mirigian LS, Makareeva E, Koistinen H, Itkonen O, Sorsa T, Stenman UH, Salo T, Leikin S.

Arch Biochem Biophys. 2013 Jul 15;535(2):111-4. doi: 10.1016/j.abb.2013.03.008. Epub 2013 Mar 28.

12.

Mutations in WNT1 cause different forms of bone fragility.

Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O, Fischer B, Yigit G, Janda CY, Becker J, Breer S, Altunoglu U, Grünhagen J, Krawitz P, Hecht J, Schinke T, Makareeva E, Lausch E, Cankaya T, Caparrós-Martín JA, Lapunzina P, Temtamy S, Aglan M, Zabel B, Eysel P, Koerber F, Leikin S, Garcia KC, Netzer C, Schönau E, Ruiz-Perez VL, Mundlos S, Amling M, Kornak U, Marini J, Wollnik B.

Am J Hum Genet. 2013 Apr 4;92(4):565-74. doi: 10.1016/j.ajhg.2013.02.010. Epub 2013 Mar 14.

13.

Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.

Barnes AM, Cabral WA, Weis M, Makareeva E, Mertz EL, Leikin S, Eyre D, Trujillo C, Marini JC.

Hum Mutat. 2012 Nov;33(11):1589-98. doi: 10.1002/humu.22139. Epub 2012 Jul 16.

14.

Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.

Valli M, Barnes AM, Gallanti A, Cabral WA, Viglio S, Weis MA, Makareeva E, Eyre D, Leikin S, Antoniazzi F, Marini JC, Mottes M.

Clin Genet. 2012 Nov;82(5):453-9. doi: 10.1111/j.1399-0004.2011.01794.x. Epub 2011 Oct 19.

15.

Deficient degradation of homotrimeric type I collagen, α1(I)3 glomerulopathy in oim mice.

Roberts-Pilgrim AM, Makareeva E, Myles MH, Besch-Williford CL, Brodeur AC, Walker AL, Leikin S, Franklin CL, Phillips CL.

Mol Genet Metab. 2011 Nov;104(3):373-82. doi: 10.1016/j.ymgme.2011.07.025. Epub 2011 Jul 31.

16.

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

Lindahl K, Barnes AM, Fratzl-Zelman N, Whyte MP, Hefferan TE, Makareeva E, Brusel M, Yaszemski MJ, Rubin CJ, Kindmark A, Roschger P, Klaushofer K, McAlister WH, Mumm S, Leikin S, Kessler E, Boskey AL, Ljunggren O, Marini JC.

Hum Mutat. 2011 Jun;32(6):598-609. doi: 10.1002/humu.21475. Epub 2011 Apr 7.

17.

Chaperoning osteogenesis: new protein-folding disease paradigms.

Makareeva E, Aviles NA, Leikin S.

Trends Cell Biol. 2011 Mar;21(3):168-76. doi: 10.1016/j.tcb.2010.11.007. Epub 2010 Dec 21. Review.

18.

Molecular mechanism of type I collagen homotrimer resistance to mammalian collagenases.

Han S, Makareeva E, Kuznetsova NV, DeRidder AM, Sutter MB, Losert W, Phillips CL, Visse R, Nagase H, Leikin S.

J Biol Chem. 2010 Jul 16;285(29):22276-81. doi: 10.1074/jbc.M110.102079. Epub 2010 May 12.

19.

Carcinomas contain a matrix metalloproteinase-resistant isoform of type I collagen exerting selective support to invasion.

Makareeva E, Han S, Vera JC, Sackett DL, Holmbeck K, Phillips CL, Visse R, Nagase H, Leikin S.

Cancer Res. 2010 Jun 1;70(11):4366-74. doi: 10.1158/0008-5472.CAN-09-4057. Epub 2010 May 11.

20.

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.

Barnes AM, Carter EM, Cabral WA, Weis M, Chang W, Makareeva E, Leikin S, Rotimi CN, Eyre DR, Raggio CL, Marini JC.

N Engl J Med. 2010 Feb 11;362(6):521-8. doi: 10.1056/NEJMoa0907705. Epub 2010 Jan 20.

21.

Structural heterogeneity of type I collagen triple helix and its role in osteogenesis imperfecta.

Makareeva E, Mertz EL, Kuznetsova NV, Sutter MB, DeRidder AM, Cabral WA, Barnes AM, McBride DJ, Marini JC, Leikin S.

J Biol Chem. 2008 Feb 22;283(8):4787-98. Epub 2007 Dec 11.

22.
23.

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.

Cabral WA, Chang W, Barnes AM, Weis M, Scott MA, Leikin S, Makareeva E, Kuznetsova NV, Rosenbaum KN, Tifft CJ, Bulas DI, Kozma C, Smith PA, Eyre DR, Marini JC.

Nat Genet. 2007 Mar;39(3):359-65. Epub 2007 Feb 4. Erratum in: Nat Genet. 2008 Jul;40(7):927.

PMID:
17277775
24.

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.

PMID:
17206620
25.

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, Leikin S, Makareeva E, Kuznetsova N, Uveges TE, Ashok A, Flor AW, Mulvihill JJ, Wilson PL, Sundaram UT, Lee B, Marini JC.

N Engl J Med. 2006 Dec 28;355(26):2757-64.

26.
27.

Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing.

Cabral WA, Makareeva E, Colige A, Letocha AD, Ty JM, Yeowell HN, Pals G, Leikin S, Marini JC.

J Biol Chem. 2005 May 13;280(19):19259-69. Epub 2005 Feb 22.

28.
29.

[Potentially dangerous photosensitizers among drugs and medicinal plant extracts].

Lozovskaia EL, Bol'shakova IV, Makareeva EN, Sapezhinskiĭ II.

Vopr Med Khim. 1998 Mar-Apr;44(2):118-34. Review. Russian.

PMID:
9634714
30.

[Phenothiazine drugs as photosensitizers and photoprotectors].

Makareeva EN, Lozovskaia EL, Sapezhinskiĭ II.

Biofizika. 1998 Mar-Apr;43(2):181-5. Russian.

PMID:
9591093
31.

[Photosensitization and photoprotection by some drugs, metabolites and other compounds].

Lozovskaia EL, Makareeva EN, Makedonov IU.

Biofizika. 1997 May-Jun;42(3):549-57. Review. Russian.

PMID:
9296615
32.

[Photosensitizing properties and antioxidant activity of furagin--an antimicrobial drug that is a derivative of nitrofuran].

Makareeva EN, Lozovskaia EL, Tatikolov AS, Sapezhinskiĭ II.

Biofizika. 1997 Mar-Apr;42(2):472-9. Russian.

PMID:
9172693

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