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Items: 1 to 50 of 284

1.

Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens.

Widrick JJ, Kawahara G, Alexander MS, Beggs AH, Kunkel LM.

J Neuromuscul Dis. 2019;6(3):271-287. doi: 10.3233/JND-190389.

PMID:
31282429
2.

Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.

Bruels CC, Li C, Mendoza T, Khan J, Reddy HM, Estrella EA, Ghosh PS, Darras BT, Lidov HGW, Pacak CA, Kunkel LM, Modave F, Draper I, Kang PB.

Mol Genet Genomic Med. 2019 Mar;7(3):e552. doi: 10.1002/mgg3.552. Epub 2019 Jan 28.

3.

Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

Saha M, Reddy HM, Salih MA, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB.

Physiol Genomics. 2018 Nov 1;50(11):929-939. doi: 10.1152/physiolgenomics.00036.2018. Epub 2018 Aug 31.

PMID:
30345904
4.

A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies.

Serafini PR, Feyder MJ, Hightower RM, Garcia-Perez D, Vieira NM, Lek A, Gibbs DE, Moukha-Chafiq O, Augelli-Szafran CE, Kawahara G, Widrick JJ, Kunkel LM, Alexander MS.

JCI Insight. 2018 Sep 20;3(18). pii: 120493. doi: 10.1172/jci.insight.120493. eCollection 2018 Sep 20.

5.

An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish.

Widrick JJ, Gibbs DE, Sanchez B, Gupta VA, Pakula A, Lawrence C, Beggs AH, Kunkel LM.

PLoS One. 2018 Jun 26;13(6):e0199712. doi: 10.1371/journal.pone.0199712. eCollection 2018.

6.

Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy.

Vieira NM, Spinazzola JM, Alexander MS, Moreira YB, Kawahara G, Gibbs DE, Mead LC, Verjovski-Almeida S, Zatz M, Kunkel LM.

Proc Natl Acad Sci U S A. 2017 Jun 6;114(23):6080-6085. doi: 10.1073/pnas.1703556114. Epub 2017 May 22.

7.

Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy.

Widrick JJ, Alexander MS, Sanchez B, Gibbs DE, Kawahara G, Beggs AH, Kunkel LM.

Physiol Genomics. 2016 Nov 1;48(11):850-860. doi: 10.1152/physiolgenomics.00088.2016. Epub 2016 Oct 7.

8.

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB.

J Hum Genet. 2017 Feb;62(2):243-252. doi: 10.1038/jhg.2016.116. Epub 2016 Oct 6.

9.

Reversal of neurobehavioral social deficits in dystrophic mice using inhibitors of phosphodiesterases PDE5A and PDE9A.

Alexander MS, Gasperini MJ, Tsai PT, Gibbs DE, Spinazzola JM, Marshall JL, Feyder MJ, Pletcher MT, Chekler EL, Morris CA, Sahin M, Harms JF, Schmidt CJ, Kleiman RJ, Kunkel LM.

Transl Psychiatry. 2016 Sep 27;6(9):e901. doi: 10.1038/tp.2016.174.

10.

CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies.

Alexander MS, Rozkalne A, Colletta A, Spinazzola JM, Johnson S, Rahimov F, Meng H, Lawlor MW, Estrella E, Kunkel LM, Gussoni E.

Cell Stem Cell. 2016 Dec 1;19(6):800-807. doi: 10.1016/j.stem.2016.08.006. Epub 2016 Sep 15.

11.

Reflections on Henry Kunkel outside the laboratory.

Kunkel LM, Kunkel HG Jr.

Clin Immunol. 2016 Nov;172:21-22. doi: 10.1016/j.clim.2016.07.005. Epub 2016 Jul 18. No abstract available.

PMID:
27438726
12.

Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.

Reddy HM, Hamed SA, Lek M, Mitsuhashi S, Estrella E, Jones MD, Mahoney LJ, Duncan AR, Cho KA, Macarthur DG, Kunkel LM, Kang PB.

Muscle Nerve. 2016 Oct;54(4):690-5. doi: 10.1002/mus.25094. Epub 2016 Aug 24.

13.

Pharmacological therapeutics targeting the secondary defects and downstream pathology of Duchenne muscular dystrophy.

Spinazzola JM, Kunkel LM.

Expert Opin Orphan Drugs. 2016;4(11):1179-1194. doi: 10.1080/21678707.2016.1240613. Epub 2016 Oct 18.

14.

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.

Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS.

Nat Genet. 2016 Jan;48(1):74-8. doi: 10.1038/ng.3465. Epub 2015 Dec 7.

15.

Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype.

Vieira NM, Elvers I, Alexander MS, Moreira YB, Eran A, Gomes JP, Marshall JL, Karlsson EK, Verjovski-Almeida S, Lindblad-Toh K, Kunkel LM, Zatz M.

Cell. 2015 Nov 19;163(5):1204-1213. doi: 10.1016/j.cell.2015.10.049. Epub 2015 Nov 12.

16.

The Pathogenesis and Therapy of Muscular Dystrophies.

Guiraud S, Aartsma-Rus A, Vieira NM, Davies KE, van Ommen GJ, Kunkel LM.

Annu Rev Genomics Hum Genet. 2015;16:281-308. doi: 10.1146/annurev-genom-090314-025003. Epub 2015 Jun 4. Review.

PMID:
26048046
17.

Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling.

Kawahara G, Gasperini MJ, Myers JA, Widrick JJ, Eran A, Serafini PR, Alexander MS, Pletcher MT, Morris CA, Kunkel LM.

Hum Mol Genet. 2015 Aug 1;24(15):4480-1. doi: 10.1093/hmg/ddv169. Epub 2015 Jun 1. No abstract available.

18.

Muscular dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotype.

Vieira NM, Guo LT, Estrela E, Kunkel LM, Zatz M, Shelton GD.

Neuromuscul Disord. 2015 May;25(5):363-70. doi: 10.1016/j.nmd.2015.02.012. Epub 2015 Mar 3.

PMID:
25813339
19.

Emerging preclinical animal models for FSHD.

Lek A, Rahimov F, Jones PL, Kunkel LM.

Trends Mol Med. 2015 May;21(5):295-306. doi: 10.1016/j.molmed.2015.02.011. Epub 2015 Mar 20. Review.

20.
21.

Dystrophin is a tumor suppressor in human cancers with myogenic programs.

Wang Y, Marino-Enriquez A, Bennett RR, Zhu M, Shen Y, Eilers G, Lee JC, Henze J, Fletcher BS, Gu Z, Fox EA, Antonescu CR, Fletcher CD, Guo X, Raut CP, Demetri GD, van de Rijn M, Ordog T, Kunkel LM, Fletcher JA.

Nat Genet. 2014 Jun;46(6):601-6. doi: 10.1038/ng.2974. Epub 2014 May 4.

22.

MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms.

Alexander MS, Casar JC, Motohashi N, Vieira NM, Eisenberg I, Marshall JL, Gasperini MJ, Lek A, Myers JA, Estrella EA, Kang PB, Shapiro F, Rahimov F, Kawahara G, Widrick JJ, Kunkel LM.

J Clin Invest. 2014 Jun;124(6):2651-67. doi: 10.1172/JCI73579. Epub 2014 May 1.

23.

Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation.

Balasubramanian A, Kawahara G, Gupta VA, Rozkalne A, Beauvais A, Kunkel LM, Gussoni E.

FASEB J. 2014 Jul;28(7):2955-69. doi: 10.1096/fj.13-246470. Epub 2014 Mar 31.

24.

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).

Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavaçana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M.

Hum Mol Genet. 2014 Aug 1;23(15):4103-10. doi: 10.1093/hmg/ddu127. Epub 2014 Mar 18.

PMID:
24647604
25.

Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis.

Kong SW, Sahin M, Collins CD, Wertz MH, Campbell MG, Leech JD, Krueger D, Bear MF, Kunkel LM, Kohane IS.

Mol Autism. 2014 Feb 24;5(1):16. doi: 10.1186/2040-2392-5-16.

26.

Human skeletal muscle xenograft as a new preclinical model for muscle disorders.

Zhang Y, King OD, Rahimov F, Jones TI, Ward CW, Kerr JP, Liu N, Emerson CP Jr, Kunkel LM, Partridge TA, Wagner KR.

Hum Mol Genet. 2014 Jun 15;23(12):3180-8. doi: 10.1093/hmg/ddu028. Epub 2014 Jan 22.

27.

Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling.

Kawahara G, Gasperini MJ, Myers JA, Widrick JJ, Eran A, Serafini PR, Alexander MS, Pletcher MT, Morris CA, Kunkel LM.

Hum Mol Genet. 2014 Apr 1;23(7):1869-78. doi: 10.1093/hmg/ddt579. Epub 2013 Nov 13. Erratum in: Hum Mol Genet. 2015 Aug 1;24(15):4480-1.

28.

Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.

Mitsuhashi S, Boyden SE, Estrella EA, Jones TI, Rahimov F, Yu TW, Darras BT, Amato AA, Folkerth RD, Jones PL, Kunkel LM, Kang PB.

Neuromuscul Disord. 2013 Dec;23(12):975-80. doi: 10.1016/j.nmd.2013.08.009. Epub 2013 Aug 31.

29.

Zebrafish based small molecule screens for novel DMD drugs.

Kawahara G, Kunkel LM.

Drug Discov Today Technol. 2013 Spring;10(1):e91-6. doi: 10.1016/j.ddtec.2012.03.001.

PMID:
24050235
30.

MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation.

Alexander MS, Kawahara G, Motohashi N, Casar JC, Eisenberg I, Myers JA, Gasperini MJ, Estrella EA, Kho AT, Mitsuhashi S, Shapiro F, Kang PB, Kunkel LM.

Cell Death Differ. 2013 Sep;20(9):1194-208. doi: 10.1038/cdd.2013.62. Epub 2013 Jun 14.

31.

Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder.

Vardarajan BN, Eran A, Jung JY, Kunkel LM, Wall DP.

Transl Psychiatry. 2013 May 28;3:e262. doi: 10.1038/tp.2013.38.

32.

The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy.

Rahimov F, Kunkel LM.

J Cell Biol. 2013 May 13;201(4):499-510. doi: 10.1083/jcb.201212142. Review.

33.

Zebrafish based small molecule screens for novel DMD drugs.

Kawahara G, Kunkel LM.

Drug Discov Today Technol. 2013 Spring;10(1):e91-e96.

34.

Peripheral blood gene expression signature differentiates children with autism from unaffected siblings.

Kong SW, Shimizu-Motohashi Y, Campbell MG, Lee IH, Collins CD, Brewster SJ, Holm IA, Rappaport L, Kohane IS, Kunkel LM.

Neurogenetics. 2013 May;14(2):143-52. doi: 10.1007/s10048-013-0363-z. Epub 2013 Apr 28.

35.

Regulation of IRS1/Akt insulin signaling by microRNA-128a during myogenesis.

Motohashi N, Alexander MS, Shimizu-Motohashi Y, Myers JA, Kawahara G, Kunkel LM.

J Cell Sci. 2013 Jun 15;126(Pt 12):2678-91. doi: 10.1242/jcs.119966. Epub 2013 Apr 19.

36.

Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders.

Kong SW, Collins CD, Shimizu-Motohashi Y, Holm IA, Campbell MG, Lee IH, Brewster SJ, Hanson E, Harris HK, Lowe KR, Saada A, Mora A, Madison K, Hundley R, Egan J, McCarthy J, Eran A, Galdzicki M, Rappaport L, Kunkel LM, Kohane IS.

PLoS One. 2012;7(12):e49475. doi: 10.1371/journal.pone.0049475. Epub 2012 Dec 5.

37.

Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy.

Mitsuhashi H, Mitsuhashi S, Lynn-Jones T, Kawahara G, Kunkel LM.

Hum Mol Genet. 2013 Feb 1;22(3):568-77. doi: 10.1093/hmg/dds467. Epub 2012 Oct 29.

38.

Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers.

Rahimov F, King OD, Leung DG, Bibat GM, Emerson CP Jr, Kunkel LM, Wagner KR.

Proc Natl Acad Sci U S A. 2012 Oct 2;109(40):16234-9. doi: 10.1073/pnas.1209508109. Epub 2012 Sep 17.

39.

A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.

Gupta VA, Kawahara G, Myers JA, Chen AT, Hall TE, Manzini MC, Currie PD, Zhou Y, Zon LI, Kunkel LM, Beggs AH.

PLoS One. 2012;7(8):e43794. doi: 10.1371/journal.pone.0043794. Epub 2012 Aug 27.

40.

Comparative RNA editing in autistic and neurotypical cerebella.

Eran A, Li JB, Vatalaro K, McCarthy J, Rahimov F, Collins C, Markianos K, Margulies DM, Brown EN, Calvo SE, Kohane IS, Kunkel LM.

Mol Psychiatry. 2013 Sep;18(9):1041-8. doi: 10.1038/mp.2012.118. Epub 2012 Aug 7.

41.

Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.

Lawlor MW, Alexander MS, Viola MG, Meng H, Joubert R, Gupta V, Motohashi N, Manfready RA, Hsu CP, Huang P, Buj-Bello A, Kunkel LM, Beggs AH, Gussoni E.

Am J Pathol. 2012 Sep;181(3):961-8. doi: 10.1016/j.ajpath.2012.05.016. Epub 2012 Jul 27.

42.

Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis.

Jones TI, Chen JC, Rahimov F, Homma S, Arashiro P, Beermann ML, King OD, Miller JB, Kunkel LM, Emerson CP Jr, Wagner KR, Jones PL.

Hum Mol Genet. 2012 Oct 15;21(20):4419-30. Epub 2012 Jul 13.

43.

Identification of a novel microRNA that regulates the proliferation and differentiation in muscle side population cells.

Motohashi N, Alexander MS, Casar JC, Kunkel LM.

Stem Cells Dev. 2012 Nov 1;21(16):3031-43. doi: 10.1089/scd.2011.0721. Epub 2012 Jun 12.

44.

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.

Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB.

Neurogenetics. 2012 May;13(2):115-24. doi: 10.1007/s10048-012-0315-z. Epub 2012 Feb 28.

45.

α-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α-actinin-3 revealing functional differences between sarcomeric isoforms.

Gupta V, Discenza M, Guyon JR, Kunkel LM, Beggs AH.

FASEB J. 2012 May;26(5):1892-908. doi: 10.1096/fj.11-194548. Epub 2012 Jan 17.

46.

β4 integrin marks interstitial myogenic progenitor cells in adult murine skeletal muscle.

Liadaki K, Casar JC, Wessen M, Luth ES, Jun S, Gussoni E, Kunkel LM.

J Histochem Cytochem. 2012 Jan;60(1):31-44. doi: 10.1369/0022155411428991.

47.

A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function.

Homma S, Chen JC, Rahimov F, Beermann ML, Hanger K, Bibat GM, Wagner KR, Kunkel LM, Emerson CP Jr, Miller JB.

Eur J Hum Genet. 2012 Apr;20(4):404-10. doi: 10.1038/ejhg.2011.213. Epub 2011 Nov 23.

48.

Characterization of zebrafish dysferlin by morpholino knockdown.

Kawahara G, Serafini PR, Myers JA, Alexander MS, Kunkel LM.

Biochem Biophys Res Commun. 2011 Sep 23;413(2):358-63. doi: 10.1016/j.bbrc.2011.08.105. Epub 2011 Aug 27.

49.

Regulation of DMD pathology by an ankyrin-encoded miRNA.

Alexander MS, Casar JC, Motohashi N, Myers JA, Eisenberg I, Gonzalez RT, Estrella EA, Kang PB, Kawahara G, Kunkel LM.

Skelet Muscle. 2011 Aug 8;1:27. doi: 10.1186/2044-5040-1-27.

50.

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.

Boyden SE, Duncan AR, Estrella EA, Lidov HG, Mahoney LJ, Katz JS, Kunkel LM, Kang PB.

BMC Med Genet. 2011 Jun 28;12:87. doi: 10.1186/1471-2350-12-87.

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