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Items: 1 to 20 of 271

1.

A homozygous nonsense mutation in SGCA is a common cause of LGMD in Assiut, Egypt.

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

Muscle Nerve. 2016 Mar 2. doi: 10.1002/mus.25094. [Epub ahead of print]

PMID:
26934379
2.

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.

PMID:
26642240
3.

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):1204-13. doi: 10.1016/j.cell.2015.10.049. Epub 2015 Nov 12.

PMID:
26582133
4.

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.

PMID:
26048046
5.

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.

PMID:
26034133
6.

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
7.

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.

8.

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.

9.

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.

10.

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.

11.

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, Cava├žana 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.

12.

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.

13.

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.

14.

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.

15.

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.

16.

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
17.

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.

18.

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.

19.

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.

20.

Zebrafish based small molecule screens for novel DMD drugs.

Kawahara G, Kunkel LM.

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

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