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Items: 1 to 50 of 207

1.

The X factor: Lack of bleeding after an acute apixaban overdose.

Leikin SM, Patel H, Welker KL, Leikin JB.

Am J Emerg Med. 2017 Sep 20. pii: S0735-6757(17)30758-1. doi: 10.1016/j.ajem.2017.09.033. [Epub ahead of print] No abstract available.

PMID:
28954701
2.

The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta.

Gioia R, Tonelli F, Ceppi I, Biggiogera M, Leikin S, Fisher S, Tenedini E, Yorgan TA, Schinke T, Tian K, Schwartz JM, Forte F, Wagener R, Villani S, Rossi A, Forlino A.

Hum Mol Genet. 2017 Aug 1;26(15):2897-2911. doi: 10.1093/hmg/ddx171.

3.

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.

PMID:
28419360
4.

The X factor: Lack of bleeding after an acute apixaban overdose.

Leikin SM, Patel H, Welker KL, Leikin JB.

Am J Emerg Med. 2017 May;35(5):801.e5-801.e6. doi: 10.1016/j.ajem.2016.11.035. Epub 2016 Nov 12.

PMID:
27884586
5.

Celecoxib treatment of fibrous dysplasia (FD) in a human FD cell line and FD-like lesions in mice with protein kinase A (PKA) defects.

Saloustros E, Liu S, Mertz EL, Bhattacharyya N, Starost MF, Salpea P, Nesterova M, Collins M, Leikin S, Stratakis CA.

Mol Cell Endocrinol. 2017 Jan 5;439:165-174. doi: 10.1016/j.mce.2016.08.004. Epub 2016 Aug 4.

6.

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.

7.

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.

8.

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.

9.

Atlas of select poisonous plants and mushrooms.

Lim CS, Chhabra N, Leikin S, Fischbein C, Mueller GM, Nelson ME.

Dis Mon. 2016 Mar;62(3):41-66. doi: 10.1016/j.disamonth.2015.12.002. Review. No abstract available.

PMID:
26965743
10.

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.

11.

Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin.

Gistelinck C, Gioia R, Gagliardi A, Tonelli F, Marchese L, Bianchi L, Landi C, Bini L, Huysseune A, Witten PE, Staes A, Gevaert K, De Rocker N, Menten B, Malfait F, Leikin S, Carra S, Tenni R, Rossi A, De Paepe A, Coucke P, Willaert A, Forlino A.

Sci Rep. 2016 Feb 15;6:21540. doi: 10.1038/srep21540.

12.

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.

13.

Haploinsufficiency for either one of the type-II regulatory subunits of protein kinase A improves the bone phenotype of Prkar1a+/- mice.

Liu S, Saloustros E, Mertz EL, Tsang K, Starost MF, Salpea P, Faucz FR, Szarek E, Nesterova M, Leikin S, Stratakis CA.

Hum Mol Genet. 2015 Nov 1;24(21):6080-92. doi: 10.1093/hmg/ddv320. Epub 2015 Aug 5.

14.

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.

15.

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.

16.

Management of anterior segment trauma.

Logothetis HD, Leikin SM, Patrianakos T.

Dis Mon. 2014 Jun;60(6):247-53. doi: 10.1016/j.disamonth.2014.03.004. Review. No abstract available.

PMID:
24906669
17.

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.

18.

Helical structure determines different susceptibilities of dsDNA, dsRNA, and tsDNA to counterion-induced condensation.

Kornyshev AA, Leikin S.

Biophys J. 2013 May 7;104(9):2031-41. doi: 10.1016/j.bpj.2013.03.033.

19.

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.

20.

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.

21.

Sudden cardiac death in young athletes.

Leikin SM, Pierce A, Nelson M.

Dis Mon. 2013 Mar;59(3):97-101. doi: 10.1016/j.disamonth.2012.12.005. Review. No abstract available.

PMID:
23410670
22.

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.

23.

The spectrum of hypothermia: from environmental exposure to therapeutic uses and medical simulation.

Leikin SM, Korley FK, Wang EE, Leikin JB.

Dis Mon. 2012 Jan;58(1):6-32. doi: 10.1016/j.disamonth.2011.10.001. Review. No abstract available.

PMID:
22221547
24.

Simulation applications in emergency medical services.

Leikin S, Aitchison P, Pettineo M, Kharasch M, Wang EE.

Dis Mon. 2011 Nov;57(11):723-33. doi: 10.1016/j.disamonth.2011.08.012. No abstract available.

PMID:
22082558
25.

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.

26.

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.

27.

Electrostatic braiding and homologous pairing of DNA double helices.

Cortini R, Kornyshev AA, Lee DJ, Leikin S.

Biophys J. 2011 Aug 17;101(4):875-84. doi: 10.1016/j.bpj.2011.06.058.

28.

Signatures of DNA flexibility, interactions and sequence-related structural variations in classical X-ray diffraction patterns.

Kornyshev AA, Lee DJ, Wynveen A, Leikin S.

Nucleic Acids Res. 2011 Sep 1;39(16):7289-99. doi: 10.1093/nar/gkr260. Epub 2011 May 18.

29.

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.

30.

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.

31.

Undulations enhance the effect of helical structure on DNA interactions.

Lee DJ, Wynveen A, Kornyshev AA, Leikin S.

J Phys Chem B. 2010 Sep 9;114(35):11668-80. doi: 10.1021/jp104552u.

32.

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.

33.

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.

34.

Alternate protein kinase A activity identifies a unique population of stromal cells in adult bone.

Tsang KM, Starost MF, Nesterova M, Boikos SA, Watkins T, Almeida MQ, Harran M, Li A, Collins MT, Cheadle C, Mertz EL, Leikin S, Kirschner LS, Robey P, Stratakis CA.

Proc Natl Acad Sci U S A. 2010 May 11;107(19):8683-8. doi: 10.1073/pnas.1003680107. Epub 2010 Apr 26.

35.

Fluctuations and interactions of semi-flexible polyelectrolytes in columnar assemblies.

Lee DJ, Leikin S, Wynveen A.

J Phys Condens Matter. 2010 Feb 24;22(7):72202. doi: 10.1088/0953-8984/22/7/072202.

36.

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.

37.

Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model.

Daley E, Streeten EA, Sorkin JD, Kuznetsova N, Shapses SA, Carleton SM, Shuldiner AR, Marini JC, Phillips CL, Goldstein SA, Leikin S, McBride DJ Jr.

J Bone Miner Res. 2010 Feb;25(2):247-61. doi: 10.1359/jbmr.090720.

38.

In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis imperfecta.

Panaroni C, Gioia R, Lupi A, Besio R, Goldstein SA, Kreider J, Leikin S, Vera JC, Mertz EL, Perilli E, Baruffaldi F, Villa I, Farina A, Casasco M, Cetta G, Rossi A, Frattini A, Marini JC, Vezzoni P, Forlino A.

Blood. 2009 Jul 9;114(2):459-68. doi: 10.1182/blood-2008-12-195859. Epub 2009 May 4.

39.

Laboratory interferences with the newer cyanide antidote: hydroxocobalamin.

Beckerman N, Leikin SM, Aitchinson R, Yen M, Wills BK.

Semin Diagn Pathol. 2009 Feb;26(1):49-52.

PMID:
19292028
40.

Biological and chemical weapons of mass destruction: updated clinical therapeutic countermeasures since 2003.

Pettineo C, Aitchison R, Leikin SM, Vogel SN, Leikin JB.

Am J Ther. 2009 Jan-Feb;16(1):35-43. doi: 10.1097/MJT.0b013e318160c3c8. Review.

PMID:
22573054
41.

Torsional deformation of double helix in interaction and aggregation of DNA.

Cherstvy AG, Kornyshev AA, Leikin S.

J Phys Chem B. 2004 May 20;108(20):6508-18. doi: 10.1021/jp0380475.

PMID:
18950140
42.

Helical coherence of DNA in crystals and solution.

Wynveen A, Lee DJ, Kornyshev AA, Leikin S.

Nucleic Acids Res. 2008 Oct;36(17):5540-51. doi: 10.1093/nar/gkn514. Epub 2008 Aug 28.

43.

Segregation of type I collagen homo- and heterotrimers in fibrils.

Han S, McBride DJ, Losert W, Leikin S.

J Mol Biol. 2008 Oct 31;383(1):122-32. doi: 10.1016/j.jmb.2008.08.008. Epub 2008 Aug 9.

44.

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 6;283(23):16061-7. doi: 10.1074/jbc.M801982200. Epub 2008 Mar 27.

45.

DNA double helices recognize mutual sequence homology in a protein free environment.

Baldwin GS, Brooks NJ, Robson RE, Wynveen A, Goldar A, Leikin S, Seddon JM, Kornyshev AA.

J Phys Chem B. 2008 Jan 31;112(4):1060-4. doi: 10.1021/jp7112297. Epub 2008 Jan 9.

PMID:
18181611
46.

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.

47.
48.

Selective retention and degradation of molecules with a single mutant alpha1(I) chain in the Brtl IV mouse model of OI.

Forlino A, Kuznetsova NV, Marini JC, Leikin S.

Matrix Biol. 2007 Oct;26(8):604-14. Epub 2007 Jun 27.

PMID:
17662583
49.

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
50.

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

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