-
1
-
-
0023130164
-
Hypertrophic cardiomyopathy: Interrelations of clinical manifestations, pathophysiology, and therapy
-
Maron BJ, Bonow RO, Cannon RO III, Leon MB, Epstien SE. Hypertrophic cardiomyopathy: interrelations of clinical manifestations, pathophysiology, and therapy. N Engl J Med. 16:1987;780-789.
-
(1987)
N Engl J Med
, vol.16
, pp. 780-789
-
-
Maron, B.J.1
Bonow, R.O.2
Cannon R.O. III3
Leon, M.B.4
Epstien, S.E.5
-
2
-
-
0023128040
-
Hypertrophic cardiomyopathy: Interrelations of clinical manifestations, pathophysiology, and therapy
-
Maron BJ, Bonow RO, Cannon RO III, Leon MB, Epstein SE. Hypertrophic cardiomyopathy: interrelations of clinical manifestations, pathophysiology, and therapy. N Engl J Med. 16:1987;844-852.
-
(1987)
N Engl J Med
, vol.16
, pp. 844-852
-
-
Maron, B.J.1
Bonow, R.O.2
Cannon R.O. III3
Leon, M.B.4
Epstein, S.E.5
-
3
-
-
0030761751
-
Hypertrophic cardiomyopathy
-
of special interest. Excellent review of current status of work in HCM, including a clinical overview.
-
Maron BJ. Hypertrophic cardiomyopathy. of special interest Lancet. 350:1997;127-133 Excellent review of current status of work in HCM, including a clinical overview.
-
(1997)
Lancet
, vol.350
, pp. 127-133
-
-
Maron, B.J.1
-
4
-
-
0027215234
-
Molecular genetic aspects of cardiomyopathy
-
Towbin JA. Molecular genetic aspects of cardiomyopathy. Biochem Med Metab Biol. 2492:1993;285-320.
-
(1993)
Biochem Med Metab Biol
, vol.2492
, pp. 285-320
-
-
Towbin, J.A.1
-
5
-
-
0028347574
-
Inherited cardiomyopathies
-
Kelly DP, Strauss AW. Inherited cardiomyopathies. N Engl J Med. 330:1994;930-932.
-
(1994)
N Engl J Med
, vol.330
, pp. 930-932
-
-
Kelly, D.P.1
Strauss, A.W.2
-
6
-
-
15844400653
-
Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
-
of outstanding interest. In this paper the authors identify two more genes encoding sarcomeric proteins responsible for a hypertrophic cardiomyopathy (HCM) phenotype. They demonstrate that mutations in genes encoding the essential and regulatory myosin light chains result in an uncommon HCM phenotype characterized by midventricular obstruction.
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Poetter K, Jiang H, Hassanzadeh S, Master S, Chang A, Dalakas M, Rayment I, Sellers J, Fananapazir L, Esptein N. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. of outstanding interest Nature Genet. 13:1996;63-69 In this paper the authors identify two more genes encoding sarcomeric proteins responsible for a hypertrophic cardiomyopathy (HCM) phenotype. They demonstrate that mutations in genes encoding the essential and regulatory myosin light chains result in an uncommon HCM phenotype characterized by midventricular obstruction.
-
(1996)
Nature Genet
, vol.13
, pp. 63-69
-
-
Poetter, K.1
Jiang, H.2
Hassanzadeh, S.3
Master, S.4
Chang, A.5
Dalakas, M.6
Rayment, I.7
Sellers, J.8
Fananapazir, L.9
Esptein, N.10
-
7
-
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0030765610
-
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy
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of outstanding interest. The authors report the identification of mutations of troponin I in patients with hypertrophic cardiomyopathy (HCM), further supporting the claim that familial HCM is a disease of the sarcomere. Importantly, patients with associated Wolff-Parkinson-White (WPW) syndrome were identified in the families studied, thereby showing that WPW is a common feature associated with HCM or that it is genetically hetergeneous as well (see [7]).
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Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, Hiroi S, Sasaoka T, Ohbuchi N, Nakamura T, et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. of outstanding interest Nat Genet. 16:1997;379-382 The authors report the identification of mutations of troponin I in patients with hypertrophic cardiomyopathy (HCM), further supporting the claim that familial HCM is a disease of the sarcomere. Importantly, patients with associated Wolff-Parkinson-White (WPW) syndrome were identified in the families studied, thereby showing that WPW is a common feature associated with HCM or that it is genetically hetergeneous as well (see [7]).
-
(1997)
Nat Genet
, vol.16
, pp. 379-382
-
-
Kimura, A.1
Harada, H.2
Park, J.E.3
Nishi, H.4
Satoh, M.5
Takahashi, M.6
Hiroi, S.7
Sasaoka, T.8
Ohbuchi, N.9
Nakamura, T.10
-
8
-
-
0029143611
-
Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3
-
MacRae C, Ghaisas N, Kass S, Donnelly S, Basson C, Watkins H, Anan R, Thierfelder L, McGarry K, Rowland E, et al. Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. J Clin Invest. 96:1995;1216-1220.
-
(1995)
J Clin Invest
, vol.96
, pp. 1216-1220
-
-
MacRae, C.1
Ghaisas, N.2
Kass, S.3
Donnelly, S.4
Basson, C.5
Watkins, H.6
Anan, R.7
Thierfelder, L.8
McGarry, K.9
Rowland, E.10
-
9
-
-
0028902929
-
Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy
-
Watkins H, McKenna WJ, Thierfelder L, Suk HJ, Anan R, O'Donoghue A, Spirito P, Matsumori A, Moravec CS, Seidman JG, Seidman CE. Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med. 332:1995;1058-1064.
-
(1995)
N Engl J Med
, vol.332
, pp. 1058-1064
-
-
Watkins, H.1
McKenna, W.J.2
Thierfelder, L.3
Suk, H.J.4
Anan, R.5
O'Donoghue, A.6
Spirito, P.7
Matsumori, A.8
Moravec, C.S.9
Seidman, J.G.10
Seidman, C.E.11
-
10
-
-
0026573969
-
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
-
Watkins H, Rosenzweig A, Hwang DS, Levi T, McKenna W, Seidman CE, Seidman JG. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med. 326:1992;1108-1114.
-
(1992)
N Engl J Med
, vol.326
, pp. 1108-1114
-
-
Watkins, H.1
Rosenzweig, A.2
Hwang, D.S.3
Levi, T.4
McKenna, W.5
Seidman, C.E.6
Seidman, J.G.7
-
11
-
-
0030067394
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A mouse model of familial hypertrophic cardiomyopathy
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of outstanding interest. Report of a mouse model of the β-myosin heavy chain (MHC) mutation Arg403→Gln which displays a hypertrophic cardiomyopathy (HCM) phenotype. In this model the mutation was introduced into α-MHC, the predominant MHC isoform in mice. The resultant phenotype, physiologic findings, histologic abnormalities and clinical symptoms were similar to those seen in humans.
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Geisterfer-Lowrance A, Christe M, Conner D, Ingwall J, Schoen F, Seidman C, Seidman J. A mouse model of familial hypertrophic cardiomyopathy. of outstanding interest Science. 272:1996;731-734 Report of a mouse model of the β-myosin heavy chain (MHC) mutation Arg403→Gln which displays a hypertrophic cardiomyopathy (HCM) phenotype. In this model the mutation was introduced into α-MHC, the predominant MHC isoform in mice. The resultant phenotype, physiologic findings, histologic abnormalities and clinical symptoms were similar to those seen in humans.
-
(1996)
Science
, vol.272
, pp. 731-734
-
-
Geisterfer-Lowrance, A.1
Christe, M.2
Conner, D.3
Ingwall, J.4
Schoen, F.5
Seidman, C.6
Seidman, J.7
-
12
-
-
0027980111
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Heterologous expression of a cardiomyopathic myosin that is defective in its actin interaction
-
Sweeney H, Straceski A, Leinwand L, Tikunov B, Faust L. Heterologous expression of a cardiomyopathic myosin that is defective in its actin interaction. J Biol Chem. 269:1994;1603-1605.
-
(1994)
J Biol Chem
, vol.269
, pp. 1603-1605
-
-
Sweeney, H.1
Straceski, A.2
Leinwand, L.3
Tikunov, B.4
Faust, L.5
-
13
-
-
0028967729
-
Abnormal contractile properties of muscle fibers expressing β-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy
-
Lankford EB, Esptein ND, Fananapazir L, Sweeney HL. Abnormal contractile properties of muscle fibers expressing β-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. J Clin Invest. 95:1995;1409-1414.
-
(1995)
J Clin Invest
, vol.95
, pp. 1409-1414
-
-
Lankford, E.B.1
Esptein, N.D.2
Fananapazir, L.3
Sweeney, H.L.4
-
14
-
-
0029993918
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Altered cardiac troponin T in vitro function in the presence of a mutation implication in familial hypertrophic cardiomyopathy
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of special interest. Analysis of the in vitro function of rat cTnT containing the Ile91→Asn mutation found in humans with hypertrophic cardiomyopathy (HCM). The authors describe a 50% increase in the speed of filament movement with this mutation, and they speculate that this change is involved in the underlying HCM phenotype.
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Lin D, Bobkova A, Homsher E, Tobachman L. Altered cardiac troponin T in vitro function in the presence of a mutation implication in familial hypertrophic cardiomyopathy. of special interest J Clin Invest. 97:1996;2842-2848 Analysis of the in vitro function of rat cTnT containing the Ile91→Asn mutation found in humans with hypertrophic cardiomyopathy (HCM). The authors describe a 50% increase in the speed of filament movement with this mutation, and they speculate that this change is involved in the underlying HCM phenotype.
-
(1996)
J Clin Invest
, vol.97
, pp. 2842-2848
-
-
Lin, D.1
Bobkova, A.2
Homsher, E.3
Tobachman, L.4
-
15
-
-
0029029027
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Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: A modulator of cardiac contraction?
-
Gautel M, Zuffardi O, Freiburg A, Labeit S. Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction? EMBO J. 14:1995;1952-1960.
-
(1995)
EMBO J
, vol.14
, pp. 1952-1960
-
-
Gautel, M.1
Zuffardi, O.2
Freiburg, A.3
Labeit, S.4
-
16
-
-
0029031198
-
The troponin complex and regulation of muscle contraction
-
Farah CS, Reinach FC. The troponin complex and regulation of muscle contraction. FASEB J. 9:1995;755-767.
-
(1995)
FASEB J
, vol.9
, pp. 755-767
-
-
Farah, C.S.1
Reinach, F.C.2
-
17
-
-
0028926032
-
Impairment of muscle function caused by mutations of phosphorylation sites in myosin regulatory light chain
-
Tohtong R, Yamashita H, Graham M, Haeberle J, Simcox A, Maughan D. Impairment of muscle function caused by mutations of phosphorylation sites in myosin regulatory light chain. Nature. 374:1995;650-653.
-
(1995)
Nature
, vol.374
, pp. 650-653
-
-
Tohtong, R.1
Yamashita, H.2
Graham, M.3
Haeberle, J.4
Simcox, A.5
Maughan, D.6
-
18
-
-
0029009393
-
Familial dilated cardiomyopathy in the United Kingdom
-
Keeling PJ, Gang Y, Smith G, Seo H, Bent SE, Murday V, Caforio ALP, McKenna WJ. Familial dilated cardiomyopathy in the United Kingdom. Br Heart J. 73:1995;417-421.
-
(1995)
Br Heart J
, vol.73
, pp. 417-421
-
-
Keeling, P.J.1
Gang, Y.2
Smith, G.3
Seo, H.4
Bent, S.E.5
Murday, V.6
Caforio, A.L.P.7
McKenna, W.J.8
-
19
-
-
0030026119
-
Towards an understanding of the dystrophinglycoprotein complex: Linkage between the extracellular matrix and the membrane cytoskeleton in muscle fibers
-
Ohlendieck R. Towards an understanding of the dystrophinglycoprotein complex: linkage between the extracellular matrix and the membrane cytoskeleton in muscle fibers. Eur J Cell Biol. 69:1996;1-10.
-
(1996)
Eur J Cell Biol
, vol.69
, pp. 1-10
-
-
Ohlendieck, R.1
-
20
-
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85030303977
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A 5′ dystrophin duplication mutation causes membrane deficiency of α-dystroglycan in a family with X-linked cardiomyopathy
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of outstanding interest. These authors demonstrate that a family with X-linked cardiomyopathy have a 5′ dystrophin gene duplication and associated deficiency of α-dystroglycan This supports earlier suggestions [56] that α-dystroglycan is important in cardiac function
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Bies RD, Maeda M, Roberds SL, Holder E, Bohlmeyer T, Young JB, Campbell KP. A 5′ dystrophin duplication mutation causes membrane deficiency of α-dystroglycan in a family with X-linked cardiomyopathy. of outstanding interest Am J Hum Genet. 1997; These authors demonstrate that a family with X-linked cardiomyopathy have a 5′ dystrophin gene duplication and associated deficiency of α-dystroglycan This supports earlier suggestions [56] that α-dystroglycan is important in cardiac function.
-
(1997)
Am J Hum Genet
-
-
Bies, R.D.1
Maeda, M.2
Roberds, S.L.3
Holder, E.4
Bohlmeyer, T.5
Young, J.B.6
Campbell, K.P.7
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21
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8244259185
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Identification of the Syrian Hamster cardiomyopathy gene
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of outstanding interest. In this paper the authors identify a δ-sarcoglycan mutation as the cause of the Syrian Hamster cardiomyopathy, which is consistent with the hypothesis that cytoskeletal proteins are important in the development of dilated cardiomyopathy.
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Nigro V, Okazaki Y, Belsito A, Piluso G, Matsuda Y, Politano L, Nigro G, Ventura C, Abbondanza C, Molinari AM, et al. Identification of the Syrian Hamster cardiomyopathy gene. of outstanding interest Hum Mol Genet. 6:1997;601-607 In this paper the authors identify a δ-sarcoglycan mutation as the cause of the Syrian Hamster cardiomyopathy, which is consistent with the hypothesis that cytoskeletal proteins are important in the development of dilated cardiomyopathy.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 601-607
-
-
Nigro, V.1
Okazaki, Y.2
Belsito, A.3
Piluso, G.4
Matsuda, Y.5
Politano, L.6
Nigro, G.7
Ventura, C.8
Abbondanza, C.9
Molinari, A.M.10
-
22
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0030981051
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Dystrophies and heart disease
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of special interest. An excellent up-to-date overview of the association of skeletal myopathy and cardiomyopathy which cytoskeletal proteins.
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Cox GF, Kunkel LM. Dystrophies and heart disease. of special interest Curr Opin Cardiol. 12:1997;329-343 An excellent up-to-date overview of the association of skeletal myopathy and cardiomyopathy which cytoskeletal proteins.
-
(1997)
Curr Opin Cardiol
, vol.12
, pp. 329-343
-
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Cox, G.F.1
Kunkel, L.M.2
-
23
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0031034388
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Dilated cardiomyopathy associated with deficiency of the cytoskeletal protein metavinculin
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of outstanding interest. Demonstration of metavinculin abnormality in a patient with DCM. This is the only case in which metavinculin abnormalities have been found.
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Maeda M, Holder E, Lowes B, Valent S, Bies RD. Dilated cardiomyopathy associated with deficiency of the cytoskeletal protein metavinculin. of outstanding interest Circulation. 95:1997;17-20 Demonstration of metavinculin abnormality in a patient with DCM. This is the only case in which metavinculin abnormalities have been found.
-
(1997)
Circulation
, vol.95
, pp. 17-20
-
-
Maeda, M.1
Holder, E.2
Lowes, B.3
Valent, S.4
Bies, R.D.5
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24
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0029784361
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Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23
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of outstanding interest. This paper reports the mapping of a familial autosomal dominant inherited DCM and mitral valve prolapse phenotype to a locus in the region of chromosome 10 where metavinculin lies.
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Bowles KR, Gajarski R, Porter P, Goytia V, Bachinski L, Roberts R, Pignatelli R, Towbin JA. Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23. of outstanding interest J Clin Invest. 98:1996;1355-1360 This paper reports the mapping of a familial autosomal dominant inherited DCM and mitral valve prolapse phenotype to a locus in the region of chromosome 10 where metavinculin lies.
-
(1996)
J Clin Invest
, vol.98
, pp. 1355-1360
-
-
Bowles, K.R.1
Gajarski, R.2
Porter, P.3
Goytia, V.4
Bachinski, L.5
Roberts, R.6
Pignatelli, R.7
Towbin, J.A.8
-
25
-
-
0023614271
-
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
-
Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 50:1987;609-617.
-
(1987)
Cell
, vol.50
, pp. 609-617
-
-
Koenig, M.1
Hoffman, E.P.2
Bertelson, C.J.3
Monaco, A.P.4
Feener, C.5
Kunkel, L.M.6
-
26
-
-
0027533969
-
Dystrophin-glycoprotein complex and laminin colocalize to the sarcolemma and transverse tubules of cardiac muscle
-
Klietsch R, Ervasti JM, Arnold W, Campbell KP, Jorgensen AO. Dystrophin-glycoprotein complex and laminin colocalize to the sarcolemma and transverse tubules of cardiac muscle. Circ Res. 72:1993;349-360.
-
(1993)
Circ Res
, vol.72
, pp. 349-360
-
-
Klietsch, R.1
Ervasti, J.M.2
Arnold, W.3
Campbell, K.P.4
Jorgensen, A.O.5
-
27
-
-
0027470203
-
The structure and functional diversity of dystrophin
-
Ahn AH, Kunkel LM. The structure and functional diversity of dystrophin. Nat Genet. 3:1993;283-291.
-
(1993)
Nat Genet
, vol.3
, pp. 283-291
-
-
Ahn, A.H.1
Kunkel, L.M.2
-
28
-
-
0023904860
-
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
-
Koenig Monaco AP, Kunkel LM. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell. 53:1988;219-228.
-
(1988)
Cell
, vol.53
, pp. 219-228
-
-
Koenig Monaco, A.P.1
Kunkel, L.M.2
-
29
-
-
0024742979
-
Sequence similarity of the amino-terminal domain of Drosophila beta-spectrin to alpha-actinin and dystrophin
-
Byers TJ, Husain-Chishti A, Dubreuil RR, Branton D, Goldstein LSB. Sequence similarity of the amino-terminal domain of Drosophila beta-spectrin to alpha-actinin and dystrophin. J Cell Biol. 109:1989;1633-1641.
-
(1989)
J Cell Biol
, vol.109
, pp. 1633-1641
-
-
Byers, T.J.1
Husain-Chishti, A.2
Dubreuil, R.R.3
Branton, D.4
Goldstein, L.S.B.5
-
30
-
-
0025217703
-
Dilated analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility
-
Koenig M, Kunkel LM. Dilated analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility. J Biol Chem. 365:1990;4560-4566.
-
(1990)
J Biol Chem
, vol.365
, pp. 4560-4566
-
-
Koenig, M.1
Kunkel, L.M.2
-
31
-
-
0029936606
-
Dystrophin and its isoforms
-
of special interest. This paper describes the various dystrophin isoforms and their functions.
-
Sadoulet-Puccio HM, Kunkel LM. Dystrophin and its isoforms. of special interest Brain Pathol. 6:1996;25-35 This paper describes the various dystrophin isoforms and their functions.
-
(1996)
Brain Pathol
, vol.6
, pp. 25-35
-
-
Sadoulet-Puccio, H.M.1
Kunkel, L.M.2
-
32
-
-
0027193330
-
X-linked dilated cardiomyopathy: Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus
-
Towbin JA, Hejtmancik JF, Brink P, Gelb BD, Zhu XM, Chamberlain JS, McCabe ERB, Swift M. X-linked dilated cardiomyopathy: molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation. 87:1993;1854-1865.
-
(1993)
Circulation
, vol.87
, pp. 1854-1865
-
-
Towbin, J.A.1
Hejtmancik, J.F.2
Brink, P.3
Gelb, B.D.4
Zhu, X.M.5
Chamberlain, J.S.6
McCabe, E.R.B.7
Swift, M.8
-
33
-
-
0027265702
-
Brief report: Deletion of the dystrophin muscle promoter region associated with X-linked dilated cardiomyopathy
-
Muntoni F, Cau M, Ganau A, Congiu R, Arvedi G, Mateddu A, Marrosu MG, Cianchetti C, Realdi G, Cao A, Melis MA. Brief report: Deletion of the dystrophin muscle promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med. 329:1993;921-925.
-
(1993)
N Engl J Med
, vol.329
, pp. 921-925
-
-
Muntoni, F.1
Cau, M.2
Ganau, A.3
Congiu, R.4
Arvedi, G.5
Mateddu, A.6
Marrosu, M.G.7
Cianchetti, C.8
Realdi, G.9
Cao, A.10
Melis, M.A.11
-
34
-
-
0027460658
-
Dystrophin protects the sarcolemma from stresses developed during muscle contraction
-
Petrof BJ, Shrager JB, Stedman HH, Kelly AM, Sweeney HL. Dystrophin protects the sarcolemma from stresses developed during muscle contraction. Proc Natl Acad Sci USA. 90:1993;3710-3714.
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 3710-3714
-
-
Petrof, B.J.1
Shrager, J.B.2
Stedman, H.H.3
Kelly, A.M.4
Sweeney, H.L.5
-
35
-
-
0025662048
-
Dystrophin-deficient mdx muscle fibers are preferentially vulnerable to necrosis induced by experiential lengthening contractions
-
Weller B, Karpati G, Carpenter S. Dystrophin-deficient mdx muscle fibers are preferentially vulnerable to necrosis induced by experiential lengthening contractions. J Neurol Sci. 100:1990;9-13.
-
(1990)
J Neurol Sci
, vol.100
, pp. 9-13
-
-
Weller, B.1
Karpati, G.2
Carpenter, S.3
-
36
-
-
0026032731
-
Decreased osmotic stability of dystrophin-less muscle cells from the mdx mouse
-
Menke A, Jockusch H. Decreased osmotic stability of dystrophin-less muscle cells from the mdx mouse. Nature. 349:1991;69-71.
-
(1991)
Nature
, vol.349
, pp. 69-71
-
-
Menke, A.1
Jockusch, H.2
-
37
-
-
8044224015
-
Myocardial involvement is very frequent among patients affected with subclinical Beckers muscular dystrophy
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of special interest. In this report, cardiomyopathy is identified as a common feature of BMD, despite the mild skeletal disease associated with BMD.
-
Melacini P, Fanin M, Danieli GA, Villanova C, Martinello F, Miorin M, Freda MP, Miorelli M, Mostacciuolo ML, Fasoli G, et al. Myocardial involvement is very frequent among patients affected with subclinical Beckers muscular dystrophy. of special interest Circulation. 94:1996;3168-3175 In this report, cardiomyopathy is identified as a common feature of BMD, despite the mild skeletal disease associated with BMD.
-
(1996)
Circulation
, vol.94
, pp. 3168-3175
-
-
Melacini, P.1
Fanin, M.2
Danieli, G.A.3
Villanova, C.4
Martinello, F.5
Miorin, M.6
Freda, M.P.7
Miorelli, M.8
Mostacciuolo, M.L.9
Fasoli, G.10
-
38
-
-
0028812128
-
Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy
-
Muntoni F, Melis MA, Ganau A, Dubowitz V. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. Am J Hum Genet. 56:1995;151-157.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 151-157
-
-
Muntoni, F.1
Melis, M.A.2
Ganau, A.3
Dubowitz, V.4
-
39
-
-
0029114103
-
A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart
-
Muntoni F, Wilson L, Marrosu G, Marrosu MG, Cianchetti C, Mestroni L, Ganau A, Dubowitz V, Sewry C. A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. J Clin Invest. 96:1995;693-699.
-
(1995)
J Clin Invest
, vol.96
, pp. 693-699
-
-
Muntoni, F.1
Wilson, L.2
Marrosu, G.3
Marrosu, M.G.4
Cianchetti, C.5
Mestroni, L.6
Ganau, A.7
Dubowitz, V.8
Sewry, C.9
-
40
-
-
0027482335
-
Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy
-
Yoshida K, Ikeda S, Nakamura A, Kagoshima M, Takeda S, Shoji S, Yanagisawa N. Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy. Muscle Nerve. 16:1993;1161-1166.
-
(1993)
Muscle Nerve
, vol.16
, pp. 1161-1166
-
-
Yoshida, K.1
Ikeda, S.2
Nakamura, A.3
Kagoshima, M.4
Takeda, S.5
Shoji, S.6
Yanagisawa, N.7
-
41
-
-
0030028518
-
A point mutation in the 53′ splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy
-
of outstanding interest. A novel mutation in the Exon 1-Intron 1 junction of dystrophin a family with XLCM. These findings support the view that the 5′ portion of the dystrophin gene is important in the development of cardiac disease, but suggest that the muscle promoter is not necessarily mutated in patients with XLCM.
-
Milasin J, Muntoni F, Severini GM, Bartoloni L, Vatta M, Krajinovic M, Mateddu A, Angelini C, Camerini F, Falaschi A, et al. A point mutation in the 53′ splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. of outstanding interest Hum Mol Genet. 5:1996;73-79 A novel mutation in the Exon 1-Intron 1 junction of dystrophin a family with XLCM. These findings support the view that the 5′ portion of the dystrophin gene is important in the development of cardiac disease, but suggest that the muscle promoter is not necessarily mutated in patients with XLCM.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 73-79
-
-
Milasin, J.1
Muntoni, F.2
Severini, G.M.3
Bartoloni, L.4
Vatta, M.5
Krajinovic, M.6
Mateddu, A.7
Angelini, C.8
Camerini, F.9
Falaschi, A.10
-
42
-
-
0030922569
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Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy
-
of outstanding interest. The authors describe a novel mutation in exon 9 of the dystrophin gene that leads to abnormal secondary structure of the first hinge region of the dystrophin protein (between the amino terminus and rod domains) and the resultant weakening of cardiomyocytes in patients with XCLM. The mutation causes an apparently cardiospecific phenotype.
-
Ortiz-Lopez R, Li H, Su J, Goytia V, Towbin JA. Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. of outstanding interest Circulation. 95:1997;2434-2440 The authors describe a novel mutation in exon 9 of the dystrophin gene that leads to abnormal secondary structure of the first hinge region of the dystrophin protein (between the amino terminus and rod domains) and the resultant weakening of cardiomyocytes in patients with XCLM. The mutation causes an apparently cardiospecific phenotype.
-
(1997)
Circulation
, vol.95
, pp. 2434-2440
-
-
Ortiz-Lopez, R.1
Li, H.2
Su, J.3
Goytia, V.4
Towbin, J.A.5
-
44
-
-
0029149471
-
Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy
-
Brenman JE, Chao DS, Xia H, Aldape X, Bredt DS. Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy. Cell. 82:1995;743-752.
-
(1995)
Cell
, vol.82
, pp. 743-752
-
-
Brenman, J.E.1
Chao, D.S.2
Xia, H.3
Aldape, X.4
Bredt, D.S.5
-
45
-
-
15844401780
-
Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells: Caveolin-3 is a component of the sacrolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins
-
Song KS, Scherer PE, Tang Z, Okamoto T, Li S, Chafel M, Chu C, Kohtz DS, Lisanti MP. Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells: caveolin-3 is a component of the sacrolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins. J Biol Chem. 271:1996;15150-15165.
-
(1996)
J Biol Chem
, vol.271
, pp. 15150-15165
-
-
Song, K.S.1
Scherer, P.E.2
Tang, Z.3
Okamoto, T.4
Li, S.5
Chafel, M.6
Chu, C.7
Kohtz, D.S.8
Lisanti, M.P.9
-
46
-
-
0024600620
-
Association of dystrophin and an integral membrane glycoprotein
-
Campbell KP, Kahl SD. Association of dystrophin and an integral membrane glycoprotein. Nature. 338:1989;259-262.
-
(1989)
Nature
, vol.338
, pp. 259-262
-
-
Campbell, K.P.1
Kahl, S.D.2
-
47
-
-
0025815479
-
Membrane organization of the dystrophin-glycoprotein complex
-
Ervasti JM, Campbell KP. Membrane organization of the dystrophin-glycoprotein complex. Cell. 66:1991;1121-1131.
-
(1991)
Cell
, vol.66
, pp. 1121-1131
-
-
Ervasti, J.M.1
Campbell, K.P.2
-
48
-
-
0027275643
-
A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin
-
Ervasti JM, Campbell KP. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol. 122:1993;809-823.
-
(1993)
J Cell Biol
, vol.122
, pp. 809-823
-
-
Ervasti, J.M.1
Campbell, K.P.2
-
49
-
-
0030499025
-
HyperCKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies, and merosinopathies
-
of outstanding interest. This paper is an excellent review of the current state of knowledge of the function of the DAG complex. It includes reports of mutations in genes encoding the proteins of the dystrophin-associated glycoprotein complex that cause muscular dystrophy.
-
Hoffman EP, Clemens PR. HyperCKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies, and merosinopathies. of outstanding interest Curr Opin Rheumatol. 6:1996;528-538 This paper is an excellent review of the current state of knowledge of the function of the DAG complex. It includes reports of mutations in genes encoding the proteins of the dystrophin-associated glycoprotein complex that cause muscular dystrophy.
-
(1996)
Curr Opin Rheumatol
, vol.6
, pp. 528-538
-
-
Hoffman, E.P.1
Clemens, P.R.2
-
50
-
-
0029906609
-
Advances in the molecular genetics of the limb-girdle type of autosomal recessive progressive muscular dystrophy
-
of outstanding interest. An excellent overview of the field.
-
Beckmann JS, Bushby KM. Advances in the molecular genetics of the limb-girdle type of autosomal recessive progressive muscular dystrophy. of outstanding interest Curr Opin Neurol. 5:1996;389-393 An excellent overview of the field.
-
(1996)
Curr Opin Neurol
, vol.5
, pp. 389-393
-
-
Beckmann, J.S.1
Bushby, K.M.2
-
51
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-
0031042885
-
Mutations in the sarcoglycan genes in patients with myopathy
-
of outstanding interest. This is the first comprehensive report of the association between DAG mutations and myopathy.
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Duggan DJ, Gorospe JR, Fanin M, Hoffman EP, Angelini C. Mutations in the sarcoglycan genes in patients with myopathy. of outstanding interest N Engl J Med. 336:1997;618-624 This is the first comprehensive report of the association between DAG mutations and myopathy.
-
(1997)
N Engl J Med
, vol.336
, pp. 618-624
-
-
Duggan, D.J.1
Gorospe, J.R.2
Fanin, M.3
Hoffman, E.P.4
Angelini, C.5
-
52
-
-
10344249872
-
Mutations that disrupt the carboxy-terminus of γ-sarcoglycan cause muscular dystrophy
-
of outstanding interest. Identification of γ-sarcoglycan mutations in patients with skeletal myopathy. This is the first report of a γ-sarcoglycan-associated disease.
-
McNally EM, Duggan D, Gorospe JR, Bonnemann CG, Fanin M, Pegoraro E, Lidov HG, Noguchi S, Ozawa E, Finkel RS, et al. Mutations that disrupt the carboxy-terminus of γ-sarcoglycan cause muscular dystrophy. of outstanding interest Hum Mol Genet. 5:1996;1841-1842 Identification of γ-sarcoglycan mutations in patients with skeletal myopathy. This is the first report of a γ-sarcoglycan-associated disease.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1841-1842
-
-
McNally, E.M.1
Duggan, D.2
Gorospe, J.R.3
Bonnemann, C.G.4
Fanin, M.5
Pegoraro, E.6
Lidov, H.G.7
Noguchi, S.8
Ozawa, E.9
Finkel, R.S.10
-
53
-
-
19244363787
-
Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation
-
of outstanding interest. This paper reports a mutation in γ-sarcoglycan which causes differing severities of muscular dystrophy, thereby identifying phenotype - genotype stratification of the disease.
-
McNally EM, Passos-Bueno MR, Bonnemann CG, Vainzof M, de Sa Moreira E, Lidov HG, Othmane KB, Denton PH, Vance JM, Zatz M, et al. Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation. of outstanding interest Am J Hum Genet. 59:1996;1040-1047 This paper reports a mutation in γ-sarcoglycan which causes differing severities of muscular dystrophy, thereby identifying phenotype - genotype stratification of the disease.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1040-1047
-
-
McNally, E.M.1
Passos-Bueno, M.R.2
Bonnemann, C.G.3
Vainzof, M.4
De Sa Moreira, E.5
Lidov, H.G.6
Othmane, K.B.7
Denton, P.H.8
Vance, J.M.9
Zatz, M.10
-
54
-
-
0028971219
-
β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
-
Bonnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, McNally EM, Duggan DJ, Angelini C, Hoffman EP, et al. β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet. 11:1995;266-273.
-
(1995)
Nat Genet
, vol.11
, pp. 266-273
-
-
Bonnemann, C.G.1
Modi, R.2
Noguchi, S.3
Mizuno, Y.4
Yoshida, M.5
Gussoni, E.6
McNally, E.M.7
Duggan, D.J.8
Angelini, C.9
Hoffman, E.P.10
-
55
-
-
0028971221
-
β-sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12
-
Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Moomaw C, Slaughter C, et al. β-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet. 11:1995;257-265.
-
(1995)
Nat Genet
, vol.11
, pp. 257-265
-
-
Lim, L.E.1
Duclos, F.2
Broux, O.3
Bourg, N.4
Sunada, Y.5
Allamand, V.6
Meyer, J.7
Richard, I.8
Moomaw, C.9
Slaughter, C.10
-
56
-
-
8244233831
-
Mild congenital muscular dystrophy in two patients with an internally deleted laminin α2-chain
-
2-chain result in congenital muscular dystrophy, but no cardiac phenotype has been identified. This report has led to speculation that laminin will also be important in the heart, since this protein is important for the function of the muscle membrane.
-
2-chain result in congenital muscular dystrophy, but no cardiac phenotype has been identified. This report has led to speculation that laminin will also be important in the heart, since this protein is important for the function of the muscle membrane.
-
(1997)
Hum Molec Genet
, vol.6
, pp. 747-752
-
-
Allamand, V.1
Sunada, Y.2
Salih, M.A.3
Straub, V.4
Ozo, C.O.5
Al-Turaiki, M.H.6
Akbar, M.7
Kolo, T.8
Colognato, H.9
Zhang, X.10
-
57
-
-
0002111569
-
Biochemical and molecular characterization of X-linked dilated cardiomyopathy (XLCM)
-
E.B. Clark, R.R. Markwald, Takao A. New York: Futura Publishing Co., Inc.
-
Towbin JA. Biochemical and molecular characterization of X-linked dilated cardiomyopathy (XLCM). Clark EB, Markwald RR, Takao A. Developmental Mechanisms of Heart Disease. 1995;121-132 Futura Publishing Co., Inc. New York.
-
(1995)
Developmental Mechanisms of Heart Disease
, pp. 121-132
-
-
Towbin, J.A.1
-
58
-
-
0030788130
-
Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy
-
of outstanding interest. This report reveals that dystrobrevin deficiency can cause muscular dystrophy. No cardiac phenotype has yet been observed, but one is expected to be revealed as more patients with mutations in this gene are identified.
-
Metzinger L, Blake DJ, Squier MV, Anderson LVB, Deconinck AE, Nawrotzki R, Hilton-Jones D, Davies KE. Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy. of outstanding interest Hum Molec Genet. 6:1997;1185-1191 This report reveals that dystrobrevin deficiency can cause muscular dystrophy. No cardiac phenotype has yet been observed, but one is expected to be revealed as more patients with mutations in this gene are identified.
-
(1997)
Hum Molec Genet
, vol.6
, pp. 1185-1191
-
-
Metzinger, L.1
Blake, D.J.2
Squier, M.V.3
Anderson, L.V.B.4
Deconinck, A.E.5
Nawrotzki, R.6
Hilton-Jones, D.7
Davies, K.E.8
-
59
-
-
0030848969
-
Utrophin-dystrophin deficient mice as a model for Duchenne muscular dystrophy
-
Deconinck AE, Rafael JA, Skinner JA, Brown SC, Patter AC, Metzinger L, Watt DJ, Dickson JG, Tinsley JM, Davies KE. Utrophin-dystrophin deficient mice as a model for Duchenne muscular dystrophy. Cell. 90:1997;717-727.
-
(1997)
Cell
, vol.90
, pp. 717-727
-
-
Deconinck, A.E.1
Rafael, J.A.2
Skinner, J.A.3
Brown, S.C.4
Patter, A.C.5
Metzinger, L.6
Watt, D.J.7
Dickson, J.G.8
Tinsley, J.M.9
Davies, K.E.10
-
60
-
-
0030848338
-
Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: A model for Duchenne muscular dystrophy
-
Grady RM, Teng H, Nichol MC, Cunningham JC, Wilkinson RS, Sanes JR. Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: A model for Duchenne muscular dystrophy. Cell. 90:1997;729-738.
-
(1997)
Cell
, vol.90
, pp. 729-738
-
-
Grady, R.M.1
Teng, H.2
Nichol, M.C.3
Cunningham, J.C.4
Wilkinson, R.S.5
Sanes, J.R.6
-
61
-
-
0030051194
-
Brief report: Deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy
-
of outstanding interest. This report identifies mutations in the DAG complex that lead to cardiac and skeletal muscle disease. It was the first paper to document cardiac dysfunction associated with sarcoglycan protein mutations.
-
Fadic R, Sunada Y, Waclawik AJ, Buck S, Lewandoski PJ, Campbell KP, Lotz BP. Brief report: deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy. of outstanding interest N Engl J Med. 334:1996;362-366 This report identifies mutations in the DAG complex that lead to cardiac and skeletal muscle disease. It was the first paper to document cardiac dysfunction associated with sarcoglycan protein mutations.
-
(1996)
N Engl J Med
, vol.334
, pp. 362-366
-
-
Fadic, R.1
Sunada, Y.2
Waclawik, A.J.3
Buck, S.4
Lewandoski, P.J.5
Campbell, K.P.6
Lotz, B.P.7
-
62
-
-
0029889476
-
Deficiency of adhalin in a patient with muscular dystrophy and cardiomyopathy
-
of outstanding interest. A report that identifies mutations in the DAG complex (adhalin) in patients with cardiomyopathy and skeletal myopathy. It supports the speculation that the DAG complex is important for both skeletal muscle and cardiac function.
-
McNally EM, Bonnemann CG, Kunkel LM, Bhattacharya SK. Deficiency of adhalin in a patient with muscular dystrophy and cardiomyopathy. of outstanding interest N Engl J Med. 334:1996;1610-1611 A report that identifies mutations in the DAG complex (adhalin) in patients with cardiomyopathy and skeletal myopathy. It supports the speculation that the DAG complex is important for both skeletal muscle and cardiac function.
-
(1996)
N Engl J Med
, vol.334
, pp. 1610-1611
-
-
McNally, E.M.1
Bonnemann, C.G.2
Kunkel, L.M.3
Bhattacharya, S.K.4
-
63
-
-
0027172919
-
Mechanotransduction across the cell surface and through the cytoskeleton
-
Wang N, Butler JP, Inger DE. Mechanotransduction across the cell surface and through the cytoskeleton. Science. 260:1993;1124-1127.
-
(1993)
Science
, vol.260
, pp. 1124-1127
-
-
Wang, N.1
Butler, J.P.2
Inger, D.E.3
-
64
-
-
0026500977
-
The involvement of adherens junction components in myofibrillogenesis in cultured cardiac myocytes
-
Goncharova EJ, Kam Z, Geiger B. The involvement of adherens junction components in myofibrillogenesis in cultured cardiac myocytes. Development. 114:1992;173-183.
-
(1992)
Development
, vol.114
, pp. 173-183
-
-
Goncharova, E.J.1
Kam, Z.2
Geiger, B.3
-
65
-
-
0026504630
-
An additional exon in the human vinculin gene specifically encodes metavinculin-specific difference peptide
-
Koteliansky VE, Ogryzko EP, Zhidkova NI, Weller PA, Critchley DR, Vancompernolle K, Vanderkerckhove J, Strasser P, Way M, Gimona M, Small JV. An additional exon in the human vinculin gene specifically encodes metavinculin-specific difference peptide. Eur J Biochem. 204:1992;767-772.
-
(1992)
Eur J Biochem
, vol.204
, pp. 767-772
-
-
Koteliansky, V.E.1
Ogryzko, E.P.2
Zhidkova, N.I.3
Weller, P.A.4
Critchley, D.R.5
Vancompernolle, K.6
Vanderkerckhove, J.7
Strasser, P.8
Way, M.9
Gimona, M.10
Small, J.V.11
-
67
-
-
0030933063
-
MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure
-
Arber S, Hunter JJ, Ross J Jr, Hongo M, Sansig G, Borg J, Perriard JC, Chien KR, Caroni P. MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure. Cell. 88:1997;393-403.
-
(1997)
Cell
, vol.88
, pp. 393-403
-
-
Arber, S.1
Hunter, J.J.2
Ross J., Jr.3
Hongo, M.4
Sansig, G.5
Borg, J.6
Perriard, J.C.7
Chien, K.R.8
Caroni, P.9
-
68
-
-
0030981050
-
Molecular genetics of long QT syndrome: From Genes to patients
-
Wang Q, Chen Q, Li H, Towbin JA. Molecular genetics of long QT syndrome: from Genes to patients. Curr Opin Cardiol. 12:1997;310-320.
-
(1997)
Curr Opin Cardiol
, vol.12
, pp. 310-320
-
-
Wang, Q.1
Chen, Q.2
Li, H.3
Towbin, J.A.4
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