-
2
-
-
0026629099
-
-
T. A. Manolio et al., Am. J. Cardiol. 69, 1458 (1992); E. K. Kasper et al., J. Am. Coll. Cardiol. 23, 586 (1994).
-
(1992)
Am. J. Cardiol.
, vol.69
, pp. 1458
-
-
Manolio, T.A.1
-
3
-
-
0028295899
-
-
T. A. Manolio et al., Am. J. Cardiol. 69, 1458 (1992); E. K. Kasper et al., J. Am. Coll. Cardiol. 23, 586 (1994).
-
(1994)
J. Am. Coll. Cardiol.
, vol.23
, pp. 586
-
-
Kasper, E.K.1
-
6
-
-
15944413013
-
-
115200, 600884, 601154, 601493, and 601494
-
Mendelian Inheritance in Man 115200, 600884, 601154, 601493, and 601494; T. M. Olson and M. T. Keating, Trends Cardiovasc. Med. 7, 60 (1997); K. R. Bowles et al., J. Clin. Invest. 98, 1355 (1996).
-
Mendelian Inheritance in Man
-
-
-
7
-
-
0030968021
-
-
Mendelian Inheritance in Man 115200, 600884, 601154, 601493, and 601494; T. M. Olson and M. T. Keating, Trends Cardiovasc. Med. 7, 60 (1997); K. R. Bowles et al., J. Clin. Invest. 98, 1355 (1996).
-
(1997)
Trends Cardiovasc. Med.
, vol.7
, pp. 60
-
-
Olson, T.M.1
Keating, M.T.2
-
8
-
-
0029784361
-
-
Mendelian Inheritance in Man 115200, 600884, 601154, 601493, and 601494; T. M. Olson and M. T. Keating, Trends Cardiovasc. Med. 7, 60 (1997); K. R. Bowles et al., J. Clin. Invest. 98, 1355 (1996).
-
(1996)
J. Clin. Invest.
, vol.98
, pp. 1355
-
-
Bowles, K.R.1
-
9
-
-
84920312946
-
-
note
-
Echocardiograms and blood samples for DNA analyses were obtained from participating family members after informed, written consent.
-
-
-
-
10
-
-
33744839368
-
-
1/3 - 0.03 (age) - 7.2 + 12% [W. L. Henry, J. M. Gardin, J. H. Ware, Circulation 62, 1054 (1980)]; shortening fraction (%) = 100 x (LV end-diastolic dimension - LV end-systolic dimension) ÷ LV end-diastolic dimension.
-
(1916)
Arch. Intern. Med.
, vol.17
, pp. 863
-
-
Du Bois, D.1
Du Bois, E.F.2
-
11
-
-
0019165493
-
-
1/3 - 0.03 (age) - 7.2 + 12% [W. L. Henry, J. M. Gardin, J. H. Ware, Circulation 62, 1054 (1980)]; shortening fraction (%) = 100 x (LV end-diastolic dimension - LV end-systolic dimension) ÷ LV end-diastolic dimension.
-
(1980)
Circulation
, vol.62
, pp. 1054
-
-
Henry, W.L.1
Gardin, J.M.2
Ware, J.H.3
-
12
-
-
0021875572
-
-
V. V. Michels, D. J. Driscoll, F. A. Miller, Am. J. Caroiol. 55, 1232 (1985); T. M. Olson and M. T. Keating, J. Clin. Invest. 97, 528 (1996).
-
(1985)
Am. J. Caroiol.
, vol.55
, pp. 1232
-
-
Michels, V.V.1
Driscoll, D.J.2
Miller, F.A.3
-
13
-
-
0030031004
-
-
V. V. Michels, D. J. Driscoll, F. A. Miller, Am. J. Caroiol. 55, 1232 (1985); T. M. Olson and M. T. Keating, J. Clin. Invest. 97, 528 (1996).
-
(1996)
J. Clin. Invest.
, vol.97
, pp. 528
-
-
Olson, T.M.1
Keating, M.T.2
-
14
-
-
84920312945
-
-
note
-
Hypertrophy of the heart was not evident on electrocardiograms or echocardiograms. Myofibrillar disarray, which is characteristic of hypertrophic cardiomyopathy, was absent on histopathologic examination of cardiac biopsy specimens.
-
-
-
-
15
-
-
0027547324
-
-
I. R. Herman, Curr. Opin. Cell Biol. 5, 48 (1993); M. Gimona, et al., Cell Motil. Cytoskel. 27, 108 (1994); J. Vandekerckhove, G. Bugaisky, M. Buckingham, J. Biol. Chem. 261, 1838 (1986).
-
(1993)
Curr. Opin. Cell Biol.
, vol.5
, pp. 48
-
-
Herman, I.R.1
-
16
-
-
0028082047
-
-
I. R. Herman, Curr. Opin. Cell Biol. 5, 48 (1993); M. Gimona, et al., Cell Motil. Cytoskel. 27, 108 (1994); J. Vandekerckhove, G. Bugaisky, M. Buckingham, J. Biol. Chem. 261, 1838 (1986).
-
(1994)
Cell Motil. Cytoskel.
, vol.27
, pp. 108
-
-
Gimona, M.1
-
17
-
-
0022974690
-
-
I. R. Herman, Curr. Opin. Cell Biol. 5, 48 (1993); M. Gimona, et al., Cell Motil. Cytoskel. 27, 108 (1994); J. Vandekerckhove, G. Bugaisky, M. Buckingham, J. Biol. Chem. 261, 1838 (1986).
-
(1986)
J. Biol. Chem.
, vol.261
, pp. 1838
-
-
Vandekerckhove, J.1
Bugaisky, G.2
Buckingham, M.3
-
19
-
-
2642646163
-
-
Primers were designed according to the published genomic DNA sequence tor ACTC [H. Hamada, M. G. Petrino, T. Kakunaga, Proc. Natl. Acad. Sci. U.S.A. 79, 5901 (1982)] and OLIGO 4.03 Primer Analysis Software (National Biosciences, Plymouth, MN). The forward primer for exon 5 overlaps 5 base pairs (bp) of coding sequence to avoid a repetitive dinucleotide sequence near the intron-exon boundary. Primer sequences are as follows: exon1F, 5′-CCCCTGAAGCTGTGCCAAGA-3′; exon1R, 5′-GGCTCGGCGGGAAGTTTAC-3′; exon2F, 5′-TAAATGGACAAGACACTGATTAT-3′; exon2R, 5′-CAGCAAGGTCGGTGACTT-3′; exon3F, 5′-GCTAGAGCAGTGGTGTTGTC-3′; exon3R, 5′-AGGTAGGCGGATTCAGTG-3′; exon4F, 5′-CTCACTGAATCCGCCTACCT-3′; exon4R, 5′-CTACACCAGACCCTACAACTC-3′; exon5F, 5′-GACTCGTTCCCAGGTATG-3′; exon5R, 5′-GATCTCCCACTCACAAAAG-3′; exon 6F, 5′-AAGTTTTTGTTTTCTTCTGC-3′; exon 6R, 5′-CATAATACCGTCATCCTGA-3′. Polymerase chain reaction (PCR) product sizes for exons 1 to 6 are 167, 457, 292, 291, 222, and 214 bp, respectively.
-
(1982)
Proc. Natl. Acad. Sci. U.S.A.
, vol.79
, pp. 5901
-
-
Hamada, H.1
Petrino, M.G.2
Kakunaga, T.3
-
20
-
-
0024595101
-
-
32P]dCTP in a final volume of 10 μl. Amplification conditions were 94°C for 5 min, followed by 30 cycles of 94°C for 30 s, 52° to 60°C for 30 s, and 72°for 30 s followed by 72°for 10 min (Perkin-Elmer Cetus 9600 thermocycler). For exon 2, 10 °l of PCR product was digested with BgI II, resulting in 198- and 259-bp fragments. Reactions were diluted with 25 μl of 0.1 % SDS, 10 mM EDTA, and 25 μl of 95% formamide dye. Diluted samples were denatured at 94°C for 10 min, and 3-μl samples were subjected to gel electrophoresis under three conditions: 0.5x and 1x Mutation Detection Enhancement gels (FMC Bioproducts, Rockland, ME) at 800 V for 14 to 30 hours (room temperature) and 10% nondenaturing polyacrylamide (49:1 polyacrylamide:bisacrylamide) with 10% glycerol at 30 W for 4 to 6 hours (4°C). Gels were then dried for autoradiography.
-
(1989)
Proc. Natl. Acad. Sci. U.S.A.
, vol.86
, pp. 2766
-
-
Orita, M.1
Iwahana, H.2
Kanazawa, H.3
Sekiya, T.4
-
21
-
-
84920312944
-
-
T. M. Olson et al., data not shown
-
T. M. Olson et al., data not shown.
-
-
-
-
22
-
-
84920312943
-
-
note
-
33P]-ddNTP (dideoxynucleoside triphosphates) cycle sequencing was performed with a Thermo Sequenase kit (Amersham Life Sciences, Cleveland, OH). Mutations were confirmed by PCR amplification and cycle sequencing of genomic DNA. No additional mutations were identified in other exons of ACTC for either family.
-
-
-
-
23
-
-
84920312942
-
-
note
-
Comparison of actin sequences was made by use of the combined protein database and the NCBI BLAST Web site (http://www.ncbi.nlm.nih.gov/cgi-bin/BLAST/nph-blast?form=1).
-
-
-
-
26
-
-
0025075839
-
-
K. C. Holmes, D. Popp, W. Gebhard, W. Kabsch, Nature 347, 44 (1990); C. C. Gregorio, Cell Struct. Funct. 22, 191 (1997).
-
(1990)
Nature
, vol.347
, pp. 44
-
-
Holmes, K.C.1
Popp, D.2
Gebhard, W.3
Kabsch, W.4
-
27
-
-
0030994919
-
-
K. C. Holmes, D. Popp, W. Gebhard, W. Kabsch, Nature 347, 44 (1990); C. C. Gregorio, Cell Struct. Funct. 22, 191 (1997).
-
(1997)
Cell Struct. Funct.
, vol.22
, pp. 191
-
-
Gregorio, C.C.1
-
28
-
-
0026595121
-
-
B. A. Levine, A. J. G. Moir, V. B. Patchell, S. V. Perry, FEBS Lett. 298, 44 (1992); P. A. Kuhlman, L. Hemmings, D. R. Critchley, ibid. 304, 201 (1992).
-
(1992)
FEBS Lett.
, vol.298
, pp. 44
-
-
Levine, B.A.1
Moir, A.J.G.2
Patchell, V.B.3
Perry, S.V.4
-
29
-
-
0026655006
-
-
B. A. Levine, A. J. G. Moir, V. B. Patchell, S. V. Perry, FEBS Lett. 298, 44 (1992); P. A. Kuhlman, L. Hemmings, D. R. Critchley, ibid. 304, 201 (1992).
-
(1992)
FEBS Lett.
, vol.304
, pp. 201
-
-
Kuhlman, P.A.1
Hemmings, L.2
Critchley, D.R.3
-
31
-
-
0030922569
-
-
302045
-
Mendelian Inheritance in Man 302045; R. Oritz-Lopez, H. Li, J. Su, V. Goytia, J. A. Towbin, Circulation 95, 2434 (1997).
-
Mendelian Inheritance in Man
-
-
-
32
-
-
0030922569
-
-
Mendelian Inheritance in Man 302045; R. Oritz-Lopez, H. Li, J. Su, V. Goytia, J. A. Towbin, Circulation 95, 2434 (1997).
-
(1997)
Circulation
, vol.95
, pp. 2434
-
-
Oritz-Lopez, R.1
Li, H.2
Su, J.3
Goytia, V.4
Towbin, J.A.5
-
33
-
-
0031052480
-
-
P. Spirito, C. E. Seidman, W. J. McKenna, B. J. Maron, N. Engl. J. Med. 336, 775 (1997).
-
(1997)
N. Engl. J. Med.
, vol.336
, pp. 775
-
-
Spirito, P.1
Seidman, C.E.2
McKenna, W.J.3
Maron, B.J.4
-
34
-
-
0028967729
-
-
E. B. Lankford, N. D. Epstein, L. Fananapazir, H. L. Sweeney, J. Clin. Invest 95, 1409 (1995); H. Watkins, C. E. Seidman, J. G. Seidman, H. S. Feng, H. L. Sweeney, ibid. 98, 2456 (1996).
-
(1995)
J. Clin. Invest
, vol.95
, pp. 1409
-
-
Lankford, E.B.1
Epstein, N.D.2
Fananapazir, L.3
Sweeney, H.L.4
-
35
-
-
0029804760
-
-
E. B. Lankford, N. D. Epstein, L. Fananapazir, H. L. Sweeney, J. Clin. Invest 95, 1409 (1995); H. Watkins, C. E. Seidman, J. G. Seidman, H. S. Feng, H. L. Sweeney, ibid. 98, 2456 (1996).
-
(1996)
J. Clin. Invest
, vol.98
, pp. 2456
-
-
Watkins, H.1
Seidman, C.E.2
Seidman, J.G.3
Feng, H.S.4
Sweeney, H.L.5
-
38
-
-
0024988340
-
-
W. Kabsch, H. G. Mannherz, D. Suck, E. F. Pai, K. C. Holmes, Nature 347, 37 (1990). The Insight II molecular modeling system software program (Biosym Technologies, San Diego) was used to create Fig. 3.
-
(1990)
Nature
, vol.347
, pp. 37
-
-
Kabsch, W.1
Mannherz, H.G.2
Suck, D.3
Pai, E.F.4
Holmes, K.C.5
-
39
-
-
84920312941
-
-
note
-
We thank D. Schaid, F. Miller, D. Driscoll, G. Orsmond, R. Shaddy, and H. Holtzer for support and helpful discussions; W. Edwards (print for Fig. 2); and J. Ross, D. Renlund, J. Mason, J. Anderson, M. Karst, and N. Kishimoto for assistance. Supported by Clinician Scientist Award 96004630 from the American Heart Association (T.M.O.), NIH SCOR grant 5-P50-HL-53773, Project 6 (M.T.K.), the John Patrick Albright Foundation, Public Health Services Research Grant M01-RR00064 from the National Center for Research Resources, and the Technology Access Section of the Utah Genome Center.
-
-
-
|