Cellular and animal models for facioscapulohumeral muscular dystrophy.

Animals Animals, Genetically Modified Cells / pathology Disease Models, Animal Heterografts Humans Models, Biological Muscular Dystrophy, Facioscapulohumeral / genetics
Animal model Cellular model DUX4 FSHD Xenograft

Journal

Disease models & mechanisms
ISSN: 1754-8411
Titre abrégé: Dis Model Mech
Pays: England
ID NLM: 101483332

Informations de publication

Date de publication:
28 10 2020
Historique:
entrez: 11 11 2020
pubmed: 12 11 2020
medline: 2 10 2021
Statut: epublish

Résumé

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy and presents with weakness of the facial, scapular and humeral muscles, which frequently progresses to the lower limbs and truncal areas, causing profound disability. Myopathy results from epigenetic de-repression of the

Identifiants

DOI: 10.1242/dmm.046904 PMID: 33174531 PMC: PMC7648604
pubmed: 33174531
pii: 13/10/dmm046904
doi: 10.1242/dmm.046904
pmc: PMC7648604
pii:
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : NICHD NIH HHS
ID : P50 HD060848
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001863
Pays : United States

Informations de copyright

© 2020. Published by The Company of Biologists Ltd.

Déclaration de conflit d'intérêts

Competing interestsThe authors declare no competing or financial interests.

Références

Proc Natl Acad Sci U S A. 2020 Jul 14;117(28):16509-16515
pubmed: 32601200
Muscle Nerve. 2015 Oct;52(4):521-6
pubmed: 25704033
Sci Rep. 2018 Nov 16;8(1):16957
pubmed: 30446688
Hum Mol Genet. 2016 Oct 15;25(20):4419-4431
pubmed: 28171552
Development. 2011 Jan;138(1):169-77
pubmed: 21138979
Gene. 1999 Aug 5;236(1):25-32
pubmed: 10433963
Genet Test. 2005 Spring;9(1):30-6
pubmed: 15857184
J Cell Mol Med. 2013 Jan;17(1):76-89
pubmed: 23206257
Hum Mol Genet. 2015 Sep 1;24(17):4817-28
pubmed: 26041815
Am J Pathol. 2012 Oct;181(4):1387-401
pubmed: 22871573
Nucleic Acids Res. 2016 Jun 20;44(11):5161-73
pubmed: 26951377
Free Radic Biol Med. 2012 Sep 1;53(5):1068-79
pubmed: 22796148
Hum Mol Genet. 2013 Feb 1;22(3):568-77
pubmed: 23108159
Elife. 2016 Nov 14;5:
pubmed: 27841748
J Clin Immunol. 2011 Apr;31(2):155-66
pubmed: 21063901
Am J Hum Genet. 2010 Mar 12;86(3):364-77
pubmed: 20206332
Chromosoma. 2012 Oct;121(5):489-97
pubmed: 22903800
Hum Mol Genet. 2009 Jul 1;18(13):2414-30
pubmed: 19359275
Am J Hum Genet. 2012 Apr 6;90(4):628-35
pubmed: 22482803
Trends Mol Med. 2015 May;21(5):295-306
pubmed: 25801126
J Cell Mol Med. 2010 Jan;14(1-2):275-89
pubmed: 18505476
Neurology. 2014 Sep 16;83(12):1056-9
pubmed: 25122204
FEBS Lett. 2003 Feb 27;537(1-3):133-8
pubmed: 12606045
Cell Rep. 2014 Sep 11;8(5):1484-96
pubmed: 25176645
Neuromuscul Disord. 2017 Mar;27(3):221-238
pubmed: 28161093
Proc Natl Acad Sci U S A. 2007 Nov 13;104(46):18157-62
pubmed: 17984056
PLoS Genet. 2017 Mar 8;13(3):e1006658
pubmed: 28273136
Sci Adv. 2019 Sep 11;5(9):eaaw7781
pubmed: 31535023
Neurology. 2010 Oct 26;75(17):1548-54
pubmed: 20975055
JCI Insight. 2018 Nov 15;3(22):
pubmed: 30429376
Hum Mol Genet. 2019 Apr 1;28(7):1064-1075
pubmed: 30445587
Hum Mol Genet. 2012 Oct 15;21(20):4419-30
pubmed: 22798623
Hum Mol Genet. 2019 Jul 1;28(13):2224-2236
pubmed: 31067297
Neuromuscul Disord. 2003 May;13(4):322-33
pubmed: 12868502
J Cell Sci. 2017 Nov 1;130(21):3685-3697
pubmed: 28935672
Science. 2010 Sep 24;329(5999):1650-3
pubmed: 20724583
PLoS One. 2009;4(2):e4640
pubmed: 19247481
Nature. 2006 Feb 23;439(7079):973-7
pubmed: 16341202
Genes (Basel). 2020 Feb 28;11(3):
pubmed: 32121044
J Pharmacol Exp Ther. 2019 Aug;370(2):219-230
pubmed: 31189728
Compr Physiol. 2017 Sep 12;7(4):1229-1279
pubmed: 28915324
Skelet Muscle. 2020 Apr 11;10(1):8
pubmed: 32278354
Cell. 2005 May 6;121(3):465-77
pubmed: 15882627
Yonsei Med J. 2018 Mar;59(2):337-340
pubmed: 29436205
Dev Cell. 2012 Jan 17;22(1):38-51
pubmed: 22209328
Hum Mutat. 2009 Oct;30(10):1449-59
pubmed: 19728363
Ann Neurol. 2011 Mar;69(3):540-52
pubmed: 21446026
Muscle Nerve. 2010 Nov;42(5):820-1
pubmed: 20928905
Neurology. 2020 Jun 9;94(23):e2441-e2447
pubmed: 32467133
PLoS One. 2016 Mar 04;11(3):e0150938
pubmed: 26942723
BMC Genomics. 2013 Mar 04;14:143
pubmed: 23496858
Mol Ther. 2016 Aug;24(8):1405-11
pubmed: 27378237
Proteomics. 2006 Oct;6(19):5303-21
pubmed: 17013991
Hum Mol Genet. 2019 Apr 15;28(8):1244-1259
pubmed: 30462217
Mol Ther. 2012 Jul;20(7):1417-23
pubmed: 22508491
J R Soc Interface. 2015 Jan 6;12(102):20140797
pubmed: 25551153
Nat Genet. 2017 Jun;49(6):941-945
pubmed: 28459456
J Clin Invest. 2020 May 1;130(5):2465-2477
pubmed: 32250341
Hum Mol Genet. 1993 Dec;2(12):2037-42
pubmed: 8111371
Skelet Muscle. 2012 May 07;2(1):8
pubmed: 22564549
Stem Cells Transl Med. 2016 Sep;5(9):1145-61
pubmed: 27217344
Acta Neurol Scand. 2013 Sep;128(3):194-201
pubmed: 23410246
J Mol Cell Biol. 2013 Oct;5(5):294-307
pubmed: 23720823
Skelet Muscle. 2017 Jun 21;7(1):13
pubmed: 28637492
Sci Transl Med. 2020 Mar 25;12(536):
pubmed: 32213627
Dis Model Mech. 2009 May-Jun;2(5-6):267-74
pubmed: 19383939
PLoS One. 2011;6(6):e20966
pubmed: 21695143
Nat Commun. 2017 Dec 18;8(1):2152
pubmed: 29255294
Clin Genet. 2009 Jun;75(6):550-5
pubmed: 19320656
Mol Ther. 2018 Jul 5;26(7):1797-1807
pubmed: 29759937
Sci Adv. 2019 Dec 11;5(12):eaaw7099
pubmed: 31844661
Clin Genet. 2020 Jun;97(6):799-814
pubmed: 32086799
Am J Hum Genet. 2007 Nov;81(5):884-94
pubmed: 17924332
J Cell Sci. 2016 Oct 15;129(20):3816-3831
pubmed: 27744317
Dev Dyn. 2001 Apr;220(4):323-36
pubmed: 11307166
Exp Neurol. 2019 Oct;320:113011
pubmed: 31306642
Ann Neurol. 2015 Sep;78(3):387-400
pubmed: 26018399
Nat Genet. 2003 Dec;35(4):315-7
pubmed: 14634647
PLoS One. 2015 Feb 19;10(2):e0117665
pubmed: 25695429
Int J Clin Exp Pathol. 2010 Mar 28;3(4):386-400
pubmed: 20490329
Hum Mol Genet. 2019 Jan 15;28(2):320-331
pubmed: 30307508
Eur J Hum Genet. 2012 Apr;20(4):404-10
pubmed: 22108603
Hum Mol Genet. 2020 Apr 15;29(6):1030-1043
pubmed: 32083293
BMC Med Genet. 2007 Mar 02;8:8
pubmed: 17335567
Neuromuscul Disord. 2007 Aug;17(8):611-23
pubmed: 17588759
Genomics. 2002 Feb;79(2):210-7
pubmed: 11829491
Am J Hum Genet. 2016 May 5;98(5):1020-1029
pubmed: 27153398
Hum Mutat. 2015 Apr;36(4):443-53
pubmed: 25615407
Exp Neurol. 2008 Nov;214(1):87-96
pubmed: 18723017
PLoS Genet. 2013 Apr;9(4):e1003415
pubmed: 23593020
J Cell Sci. 2013 May 15;126(Pt 10):2236-45
pubmed: 23525014
Hum Mol Genet. 2013 Dec 1;22(23):4661-72
pubmed: 23821646
PLoS One. 2018 Feb 7;13(2):e0192657
pubmed: 29415061
Skelet Muscle. 2016 Feb 27;6:4
pubmed: 26925213
Nat Commun. 2017 Sep 15;8(1):550
pubmed: 28916757
PLoS Genet. 2013 Jun;9(6):e1003550
pubmed: 23785297
J Biol Chem. 2013 Dec 6;288(49):34989-5002
pubmed: 24145033
Nat Struct Mol Biol. 2013 Jun;20(6):671-8
pubmed: 23644600
Am J Hum Genet. 2004 Dec;75(6):1124-30
pubmed: 15467981
Hum Mol Genet. 2016 Oct 15;25(20):4577-4589
pubmed: 28173143
Nat Genet. 2017 Jun;49(6):935-940
pubmed: 28459454
Nat Genet. 2017 Jun;49(6):925-934
pubmed: 28459457
PLoS Genet. 2013 Nov;9(11):e1003947
pubmed: 24278031
Hum Mol Genet. 1994 Aug;3(8):1287-95
pubmed: 7987304
Muscle Nerve. 2014 Apr;49(4):520-7
pubmed: 23873337
Nat Genet. 2002 Oct;32(2):235-6
pubmed: 12355084
Hum Mol Genet. 2020 Aug 11;29(14):2285-2299
pubmed: 32242220
Elife. 2019 Jan 15;8:
pubmed: 30644821
Neurology. 2019 May 7;92(19):e2273-e2285
pubmed: 30979860
EMBO J. 2008 Oct 22;27(20):2766-79
pubmed: 18833193
Elife. 2015 Jan 07;4:
pubmed: 25564732
Ann Clin Transl Neurol. 2015 Feb;2(2):151-66
pubmed: 25750920
Skelet Muscle. 2016 Jan 28;6:8
pubmed: 26823969
Stem Cells Dev. 2015 Nov 15;24(22):2674-86
pubmed: 26192274
Hum Mol Genet. 2018 Feb 15;27(4):716-731
pubmed: 29281018
PLoS Genet. 2010 Oct 28;6(10):e1001181
pubmed: 21060811
Dis Model Mech. 2017 Oct 1;10(10):1211-1216
pubmed: 28754837
PLoS One. 2009 Oct 15;4(10):e7482
pubmed: 19829708
PLoS One. 2016 Jan 25;11(1):e0147198
pubmed: 26807982
PLoS One. 2011;6(5):e19780
pubmed: 21603621
Hum Mol Genet. 2016 Apr 15;25(8):1468-78
pubmed: 26787513
Free Radic Biol Med. 2016 Oct;99:244-258
pubmed: 27519269
Skelet Muscle. 2011 Mar 08;1(1):12
pubmed: 21798090
Hum Mol Genet. 1995 May;4(5):951-8
pubmed: 7633457
Skelet Muscle. 2016 Dec 1;6(1):42
pubmed: 27906075
Mol Ther. 2016 Mar;24(3):527-35
pubmed: 26527377
Hum Mol Genet. 2003 Nov 15;12(22):2895-907
pubmed: 14519683
Am J Hum Genet. 2007 Aug;81(2):264-79
pubmed: 17668377
Nat Genet. 2012 Dec;44(12):1370-4
pubmed: 23143600
Neurology. 1999 Jun 10;52(9):1822-6
pubmed: 10371529
Histochem Cell Biol. 2016 Apr;145(4):475-83
pubmed: 26860865
Int J Mol Sci. 2020 Aug 04;21(15):
pubmed: 32759720
Dev Neurobiol. 2009 May;69(6):401-6
pubmed: 19263419
PLoS One. 2013 May 22;8(5):e64691
pubmed: 23717650
Mol Ther Methods Clin Dev. 2017 Dec 24;8:121-130
pubmed: 29387734
PLoS One. 2011;6(10):e26820
pubmed: 22053214
PLoS One. 2012;7(12):e51865
pubmed: 23272181
Nat Genet. 1992 Sep;2(1):26-30
pubmed: 1363881
Muscle Nerve Suppl. 1995;2:S56-66
pubmed: 7739627
Ann Neurol. 1999 Jun;45(6):751-7
pubmed: 10360767
PLoS One. 2016 Mar 15;11(3):e0151467
pubmed: 26978271
Hum Mol Genet. 2014 Jun 15;23(12):3180-8
pubmed: 24452336
Hum Mol Genet. 2015 Oct 15;24(20):5901-14
pubmed: 26246499
Hum Mol Genet. 2019 Dec 1;28(23):3997-4011
pubmed: 31630170
Hum Mol Genet. 2018 Dec 1;27(23):4024-4035
pubmed: 30107443
Eur J Hum Genet. 2015 Jun;23(6):808-16
pubmed: 25370034

Auteurs

Alec M DeSimone (AM)

Yale School of Medicine, Department of Genetics, New Haven, CT 06510, USA Alec.DeSimone@yale.edu Angela.Lek@yale.edu.
ORCID: 0000-0001-9961-9839

Justin Cohen (J)

Yale School of Medicine, Department of Genetics, New Haven, CT 06510, USA.

Monkol Lek (M)

Yale School of Medicine, Department of Genetics, New Haven, CT 06510, USA.

Angela Lek (A)

Yale School of Medicine, Department of Genetics, New Haven, CT 06510, USA Alec.DeSimone@yale.edu Angela.Lek@yale.edu.
ORCID: 0000-0001-5889-2169

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Cellular and animal models for...
questionsmedicales.fr › Stades d'organismes › Organismes génétiquement modifiés › Animal génétiquement modifié › Cellular and animal models for...
questionsmedicales.fr › Cellules › Cellular and animal models for...
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › Cellular and animal models for...
questionsmedicales.fr › Régions du corps › Transplants › Hétérogreffes › Cellular and animal models for...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Cellular and animal models for...
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Cellular and animal models for...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Dystrophies musculaires › Dystrophie musculaire facio-scapulo-humérale › Cellular and animal models for...