|
|
char = N;code = 78
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char = w;code = 119
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char = i;code = 105
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char = s;code = 115
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char = s;code = 115
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char = f;code = 102
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char = n;code = 110
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char = c;code = 99
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char = f;code = 102
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char = a;code = 97
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char = i;code = 105
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char = n;code = 110
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char = .;code = 46
result sql = New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.char = A;code = 65
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char = c;code = 99
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char = a;code = 97
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char = (;code = 40
char = A;code = 65
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char = C;code = 67
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char = a;code = 97
char = r;code = 114
char = a;code = 97
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char = p;code = 112
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char = s;code = 115
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char = o;code = 111
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char = E;code = 69
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char = (;code = 40
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result sql = Autosomal dominant cutis laxa (ADCL) is characterized by a typical facial appearance and generalized loose skin folds, occasionally associated with aortic root dilatation and emphysema. We sequenced exons 28-34 of the ELN gene in five probands with ADCL features and found five de novo heterozygous mutations: c.2296_2299dupGCAG (CL-1), c.2333delC (CL-2), c.2137delG (CL-3), c.2262delA (monozygotic twin CL-4 and CL-5), and c.2124del25 (CL-6). Four probands (CL-1,-2,-3,-6) presented with progressive aortic root dilatation. CL-2 and CL-3 also had bicuspid aortic valves. CL-2 presented with severe emphysema. Electron microscopy revealed elastic fiber fragmentation and diminished dermal elastin deposition RT-PCR : studies showed stable mutant mRNA in all patients. Exon 32 skipping explains a milder phenotype in patients with exon 32 mutations. Mutant protein expression in fibroblast cultures impaired deposition of tropoelastin onto microfibril-containing fibers, and enhanced tropoelastin coacervation and globule formation leading to lower amounts of mature, insoluble elastin. Mutation-specific effects also included endoplasmic reticulum stress and increased apoptosis. Increased pSMAD2 staining in ADCL fibroblasts indicated enhanced transforming growth factor beta (TGF-β) signaling. We conclude that ADCL is a systemic disease with cardiovascular and pulmonary complications, associated with increased TGF-β signaling and mutation-specific differences in endoplasmic reticulum stress and apoptosis.
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result sql = New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.
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char = i;code = 105
char = c;code = 99
char = a;code = 97
char = l;code = 108
char = ;code = 32
char = f;code = 102
char = a;code = 97
char = c;code = 99
char = i;code = 105
char = a;code = 97
char = l;code = 108
char = ;code = 32
char = a;code = 97
char = p;code = 112
char = p;code = 112
char = e;code = 101
char = a;code = 97
char = r;code = 114
char = a;code = 97
char = n;code = 110
char = c;code = 99
char = e;code = 101
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = g;code = 103
char = e;code = 101
char = n;code = 110
char = e;code = 101
char = r;code = 114
char = a;code = 97
char = l;code = 108
char = i;code = 105
char = z;code = 122
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = l;code = 108
char = o;code = 111
char = o;code = 111
char = s;code = 115
char = e;code = 101
char = ;code = 32
char = s;code = 115
char = k;code = 107
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = f;code = 102
char = o;code = 111
char = l;code = 108
char = d;code = 100
char = s;code = 115
char = ,;code = 44
char = ;code = 32
char = o;code = 111
char = c;code = 99
char = c;code = 99
char = a;code = 97
char = s;code = 115
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = a;code = 97
char = l;code = 108
char = l;code = 108
char = y;code = 121
char = ;code = 32
char = a;code = 97
char = s;code = 115
char = s;code = 115
char = o;code = 111
char = c;code = 99
char = i;code = 105
char = a;code = 97
char = t;code = 116
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = a;code = 97
char = o;code = 111
char = r;code = 114
char = t;code = 116
char = i;code = 105
char = c;code = 99
char = ;code = 32
char = r;code = 114
char = o;code = 111
char = o;code = 111
char = t;code = 116
char = ;code = 32
char = d;code = 100
char = i;code = 105
char = l;code = 108
char = a;code = 97
char = t;code = 116
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = e;code = 101
char = m;code = 109
char = p;code = 112
char = h;code = 104
char = y;code = 121
char = s;code = 115
char = e;code = 101
char = m;code = 109
char = a;code = 97
char = .;code = 46
char = ;code = 32
char = W;code = 87
char = e;code = 101
char = ;code = 32
char = s;code = 115
char = e;code = 101
char = q;code = 113
char = u;code = 117
char = e;code = 101
char = n;code = 110
char = c;code = 99
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = e;code = 101
char = x;code = 120
char = o;code = 111
char = n;code = 110
char = s;code = 115
char = ;code = 32
char = 2;code = 50
char = 8;code = 56
char = -;code = 45
char = 3;code = 51
char = 4;code = 52
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = ;code = 32
char = E;code = 69
char = L;code = 76
char = N;code = 78
char = ;code = 32
char = g;code = 103
char = e;code = 101
char = n;code = 110
char = e;code = 101
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = f;code = 102
char = i;code = 105
char = v;code = 118
char = e;code = 101
char = ;code = 32
char = p;code = 112
char = r;code = 114
char = o;code = 111
char = b;code = 98
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = s;code = 115
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = A;code = 65
char = D;code = 68
char = C;code = 67
char = L;code = 76
char = ;code = 32
char = f;code = 102
char = e;code = 101
char = a;code = 97
char = t;code = 116
char = u;code = 117
char = r;code = 114
char = e;code = 101
char = s;code = 115
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = f;code = 102
char = o;code = 111
char = u;code = 117
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = f;code = 102
char = i;code = 105
char = v;code = 118
char = e;code = 101
char = ;code = 32
char = d;code = 100
char = e;code = 101
char = ;code = 32
char = n;code = 110
char = o;code = 111
char = v;code = 118
char = o;code = 111
char = ;code = 32
char = h;code = 104
char = e;code = 101
char = t;code = 116
char = e;code = 101
char = r;code = 114
char = o;code = 111
char = z;code = 122
char = y;code = 121
char = g;code = 103
char = o;code = 111
char = u;code = 117
char = s;code = 115
char = ;code = 32
char = m;code = 109
char = u;code = 117
char = t;code = 116
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = s;code = 115
char = :;code = 58
char = ;code = 32
char = c;code = 99
char = .;code = 46
char = 2;code = 50
char = 2;code = 50
char = 9;code = 57
char = 6;code = 54
char = _;code = 95
char = 2;code = 50
char = 2;code = 50
char = 9;code = 57
char = 9;code = 57
char = d;code = 100
char = u;code = 117
char = p;code = 112
char = G;code = 71
char = C;code = 67
char = A;code = 65
char = G;code = 71
char = ;code = 32
char = (;code = 40
char = C;code = 67
char = L;code = 76
char = -;code = 45
char = 1;code = 49
char = );code = 41
char = ,;code = 44
char = ;code = 32
char = c;code = 99
char = .;code = 46
char = 2;code = 50
char = 3;code = 51
char = 3;code = 51
char = 3;code = 51
char = d;code = 100
char = e;code = 101
char = l;code = 108
char = C;code = 67
char = ;code = 32
char = (;code = 40
char = C;code = 67
char = L;code = 76
char = -;code = 45
char = 2;code = 50
char = );code = 41
char = ,;code = 44
char = ;code = 32
char = c;code = 99
char = .;code = 46
char = 2;code = 50
char = 1;code = 49
char = 3;code = 51
char = 7;code = 55
char = d;code = 100
char = e;code = 101
char = l;code = 108
char = G;code = 71
char = ;code = 32
char = (;code = 40
char = C;code = 67
char = L;code = 76
char = -;code = 45
char = 3;code = 51
char = );code = 41
char = ,;code = 44
char = ;code = 32
char = c;code = 99
char = .;code = 46
char = 2;code = 50
char = 2;code = 50
char = 6;code = 54
char = 2;code = 50
char = d;code = 100
char = e;code = 101
char = l;code = 108
char = A;code = 65
char = ;code = 32
char = (;code = 40
char = m;code = 109
char = o;code = 111
char = n;code = 110
char = o;code = 111
char = z;code = 122
char = y;code = 121
char = g;code = 103
char = o;code = 111
char = t;code = 116
char = i;code = 105
char = c;code = 99
char = ;code = 32
char = t;code = 116
char = w;code = 119
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = C;code = 67
char = L;code = 76
char = -;code = 45
char = 4;code = 52
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = C;code = 67
char = L;code = 76
char = -;code = 45
char = 5;code = 53
char = );code = 41
char = ,;code = 44
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = c;code = 99
char = .;code = 46
char = 2;code = 50
char = 1;code = 49
char = 2;code = 50
char = 4;code = 52
char = d;code = 100
char = e;code = 101
char = l;code = 108
char = 2;code = 50
char = 5;code = 53
char = ;code = 32
char = (;code = 40
char = C;code = 67
char = L;code = 76
char = -;code = 45
char = 6;code = 54
char = );code = 41
char = .;code = 46
char = ;code = 32
char = F;code = 70
char = o;code = 111
char = u;code = 117
char = r;code = 114
char = ;code = 32
char = p;code = 112
char = r;code = 114
char = o;code = 111
char = b;code = 98
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = s;code = 115
char = ;code = 32
char = (;code = 40
char = C;code = 67
char = L;code = 76
char = -;code = 45
char = 1;code = 49
char = ,;code = 44
char = -;code = 45
char = 2;code = 50
char = ,;code = 44
char = -;code = 45
char = 3;code = 51
char = ,;code = 44
char = -;code = 45
char = 6;code = 54
char = );code = 41
char = ;code = 32
char = p;code = 112
char = r;code = 114
char = e;code = 101
char = s;code = 115
char = e;code = 101
char = n;code = 110
char = t;code = 116
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = p;code = 112
char = r;code = 114
char = o;code = 111
char = g;code = 103
char = r;code = 114
char = e;code = 101
char = s;code = 115
char = s;code = 115
char = i;code = 105
char = v;code = 118
char = e;code = 101
char = ;code = 32
char = a;code = 97
char = o;code = 111
char = r;code = 114
char = t;code = 116
char = i;code = 105
char = c;code = 99
char = ;code = 32
char = r;code = 114
char = o;code = 111
char = o;code = 111
char = t;code = 116
char = ;code = 32
char = d;code = 100
char = i;code = 105
char = l;code = 108
char = a;code = 97
char = t;code = 116
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = .;code = 46
char = ;code = 32
char = C;code = 67
char = L;code = 76
char = -;code = 45
char = 2;code = 50
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = C;code = 67
char = L;code = 76
char = -;code = 45
char = 3;code = 51
char = ;code = 32
char = a;code = 97
char = l;code = 108
char = s;code = 115
char = o;code = 111
char = ;code = 32
char = h;code = 104
char = a;code = 97
char = d;code = 100
char = ;code = 32
char = b;code = 98
char = i;code = 105
char = c;code = 99
char = u;code = 117
char = s;code = 115
char = p;code = 112
char = i;code = 105
char = d;code = 100
char = ;code = 32
char = a;code = 97
char = o;code = 111
char = r;code = 114
char = t;code = 116
char = i;code = 105
char = c;code = 99
char = ;code = 32
char = v;code = 118
char = a;code = 97
char = l;code = 108
char = v;code = 118
char = e;code = 101
char = s;code = 115
char = .;code = 46
char = ;code = 32
char = C;code = 67
char = L;code = 76
char = -;code = 45
char = 2;code = 50
char = ;code = 32
char = p;code = 112
char = r;code = 114
char = e;code = 101
char = s;code = 115
char = e;code = 101
char = n;code = 110
char = t;code = 116
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = s;code = 115
char = e;code = 101
char = v;code = 118
char = e;code = 101
char = r;code = 114
char = e;code = 101
char = ;code = 32
char = e;code = 101
char = m;code = 109
char = p;code = 112
char = h;code = 104
char = y;code = 121
char = s;code = 115
char = e;code = 101
char = m;code = 109
char = a;code = 97
char = .;code = 46
char = ;code = 32
char = E;code = 69
char = l;code = 108
char = e;code = 101
char = c;code = 99
char = t;code = 116
char = r;code = 114
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = m;code = 109
char = i;code = 105
char = c;code = 99
char = r;code = 114
char = o;code = 111
char = s;code = 115
char = c;code = 99
char = o;code = 111
char = p;code = 112
char = y;code = 121
char = ;code = 32
char = r;code = 114
char = e;code = 101
char = v;code = 118
char = e;code = 101
char = a;code = 97
char = l;code = 108
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = e;code = 101
char = l;code = 108
char = a;code = 97
char = s;code = 115
char = t;code = 116
char = i;code = 105
char = c;code = 99
char = ;code = 32
char = f;code = 102
char = i;code = 105
char = b;code = 98
char = e;code = 101
char = r;code = 114
char = ;code = 32
char = f;code = 102
char = r;code = 114
char = a;code = 97
char = g;code = 103
char = m;code = 109
char = e;code = 101
char = n;code = 110
char = t;code = 116
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = d;code = 100
char = i;code = 105
char = m;code = 109
char = i;code = 105
char = n;code = 110
char = i;code = 105
char = s;code = 115
char = h;code = 104
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = d;code = 100
char = e;code = 101
char = r;code = 114
char = m;code = 109
char = a;code = 97
char = l;code = 108
char = ;code = 32
char = e;code = 101
char = l;code = 108
char = a;code = 97
char = s;code = 115
char = t;code = 116
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = d;code = 100
char = e;code = 101
char = p;code = 112
char = o;code = 111
char = s;code = 115
char = i;code = 105
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = <;code = 60
char = b;code = 98
char = >;code = 62
char = ;code = 32
char = R;code = 82
char = T;code = 84
char = -;code = 45
char = P;code = 80
char = C;code = 67
char = R;code = 82
char = ;code = 32
char = :;code = 58
char = ;code = 32
char = <;code = 60
char = /;code = 47
char = b;code = 98
char = >;code = 62
char = s;code = 115
char = t;code = 116
char = u;code = 117
char = d;code = 100
char = i;code = 105
char = e;code = 101
char = s;code = 115
char = ;code = 32
char = s;code = 115
char = h;code = 104
char = o;code = 111
char = w;code = 119
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = s;code = 115
char = t;code = 116
char = a;code = 97
char = b;code = 98
char = l;code = 108
char = e;code = 101
char = ;code = 32
char = m;code = 109
char = u;code = 117
char = t;code = 116
char = a;code = 97
char = n;code = 110
char = t;code = 116
char = ;code = 32
char = m;code = 109
char = R;code = 82
char = N;code = 78
char = A;code = 65
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = a;code = 97
char = l;code = 108
char = l;code = 108
char = ;code = 32
char = p;code = 112
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = e;code = 101
char = n;code = 110
char = t;code = 116
char = s;code = 115
char = .;code = 46
char = ;code = 32
char = E;code = 69
char = x;code = 120
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = 3;code = 51
char = 2;code = 50
char = ;code = 32
char = s;code = 115
char = k;code = 107
char = i;code = 105
char = p;code = 112
char = p;code = 112
char = i;code = 105
char = n;code = 110
char = g;code = 103
char = ;code = 32
char = e;code = 101
char = x;code = 120
char = p;code = 112
char = l;code = 108
char = a;code = 97
char = i;code = 105
char = n;code = 110
char = s;code = 115
char = ;code = 32
char = a;code = 97
char = ;code = 32
char = m;code = 109
char = i;code = 105
char = l;code = 108
char = d;code = 100
char = e;code = 101
char = r;code = 114
char = ;code = 32
char = p;code = 112
char = h;code = 104
char = e;code = 101
char = n;code = 110
char = o;code = 111
char = t;code = 116
char = y;code = 121
char = p;code = 112
char = e;code = 101
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = p;code = 112
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = e;code = 101
char = n;code = 110
char = t;code = 116
char = s;code = 115
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = e;code = 101
char = x;code = 120
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = 3;code = 51
char = 2;code = 50
char = ;code = 32
char = m;code = 109
char = u;code = 117
char = t;code = 116
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = s;code = 115
char = .;code = 46
char = ;code = 32
char = M;code = 77
char = u;code = 117
char = t;code = 116
char = a;code = 97
char = n;code = 110
char = t;code = 116
char = ;code = 32
char = p;code = 112
char = r;code = 114
char = o;code = 111
char = t;code = 116
char = e;code = 101
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = e;code = 101
char = x;code = 120
char = p;code = 112
char = r;code = 114
char = e;code = 101
char = s;code = 115
char = s;code = 115
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = f;code = 102
char = i;code = 105
char = b;code = 98
char = r;code = 114
char = o;code = 111
char = b;code = 98
char = l;code = 108
char = a;code = 97
char = s;code = 115
char = t;code = 116
char = ;code = 32
char = c;code = 99
char = u;code = 117
char = l;code = 108
char = t;code = 116
char = u;code = 117
char = r;code = 114
char = e;code = 101
char = s;code = 115
char = ;code = 32
char = i;code = 105
char = m;code = 109
char = p;code = 112
char = a;code = 97
char = i;code = 105
char = r;code = 114
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = d;code = 100
char = e;code = 101
char = p;code = 112
char = o;code = 111
char = s;code = 115
char = i;code = 105
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = t;code = 116
char = r;code = 114
char = o;code = 111
char = p;code = 112
char = o;code = 111
char = e;code = 101
char = l;code = 108
char = a;code = 97
char = s;code = 115
char = t;code = 116
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = o;code = 111
char = n;code = 110
char = t;code = 116
char = o;code = 111
char = ;code = 32
char = m;code = 109
char = i;code = 105
char = c;code = 99
char = r;code = 114
char = o;code = 111
char = f;code = 102
char = i;code = 105
char = b;code = 98
char = r;code = 114
char = i;code = 105
char = l;code = 108
char = -;code = 45
char = c;code = 99
char = o;code = 111
char = n;code = 110
char = t;code = 116
char = a;code = 97
char = i;code = 105
char = n;code = 110
char = i;code = 105
char = n;code = 110
char = g;code = 103
char = ;code = 32
char = f;code = 102
char = i;code = 105
char = b;code = 98
char = e;code = 101
char = r;code = 114
char = s;code = 115
char = ,;code = 44
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = e;code = 101
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result sql = Autosomal dominant cutis laxa (ADCL) is characterized by a typical facial appearance and generalized loose skin folds, occasionally associated with aortic root dilatation and emphysema. We sequenced exons 28-34 of the ELN gene in five probands with ADCL features and found five de novo heterozygous mutations: c.2296_2299dupGCAG (CL-1), c.2333delC (CL-2), c.2137delG (CL-3), c.2262delA (monozygotic twin CL-4 and CL-5), and c.2124del25 (CL-6). Four probands (CL-1,-2,-3,-6) presented with progressive aortic root dilatation. CL-2 and CL-3 also had bicuspid aortic valves. CL-2 presented with severe emphysema. Electron microscopy revealed elastic fiber fragmentation and diminished dermal elastin deposition RT-PCR : studies showed stable mutant mRNA in all patients. Exon 32 skipping explains a milder phenotype in patients with exon 32 mutations. Mutant protein expression in fibroblast cultures impaired deposition of tropoelastin onto microfibril-containing fibers, and enhanced tropoelastin coacervation and globule formation leading to lower amounts of mature, insoluble elastin. Mutation-specific effects also included endoplasmic reticulum stress and increased apoptosis. Increased pSMAD2 staining in ADCL fibroblasts indicated enhanced transforming growth factor beta (TGF-β) signaling. We conclude that ADCL is a systemic disease with cardiovascular and pulmonary complications, associated with increased TGF-β signaling and mutation-specific differences in endoplasmic reticulum stress and apoptosis.
Publication: Hum. Mutat. 2011 Apr ;32(4)::445-55. :doi: 10.1002/humu.21462.
Publication Date: 2011 Apr
Study Author(s): Callewaert, Bert;Renard, Marjolijn;Hucthagowder, Vishwanathan;Albrecht, Beate;Hausser, Ingrid;Blair, Edward;Dias, Cristina;Albino, Alice;Wachi, Hiroshi;Sato, Fumiaki;Mecham, Robert P;Loeys, Bart;Coucke, Paul J;De Paepe, Anne;Urban, Zsolt;
Institution: Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Shortcut link to this study:
Publication Date: 2011 Apr
Study Author(s): Callewaert, Bert;Renard, Marjolijn;Hucthagowder, Vishwanathan;Albrecht, Beate;Hausser, Ingrid;Blair, Edward;Dias, Cristina;Albino, Alice;Wachi, Hiroshi;Sato, Fumiaki;Mecham, Robert P;Loeys, Bart;Coucke, Paul J;De Paepe, Anne;Urban, Zsolt;
Institution: Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Shortcut link to this study:
Autosomal dominant cutis laxa (ADCL) is characterized by a typical facial appearance and generalized loose skin folds, occasionally associated with aortic root dilatation and emphysema. We sequenced exons 28-34 of the ELN gene in five probands with ADCL features and found five de novo heterozygous mutations: c.2296_2299dupGCAG (CL-1), c.2333delC (CL-2), c.2137delG (CL-3), c.2262delA (monozygotic twin CL-4 and CL-5), and c.2124del25 (CL-6). Four probands (CL-1,-2,-3,-6) presented with progressive aortic root dilatation. CL-2 and CL-3 also had bicuspid aortic valves. CL-2 presented with severe emphysema. Electron microscopy revealed elastic fiber fragmentation and diminished dermal elastin deposition RT-PCR : studies showed stable mutant mRNA in all patients. Exon 32 skipping explains a milder phenotype in patients with exon 32 mutations. Mutant protein expression in fibroblast cultures impaired deposition of tropoelastin onto microfibril-containing fibers, and enhanced tropoelastin coacervation and globule formation leading to lower amounts of mature, insoluble elastin. Mutation-specific effects also included endoplasmic reticulum stress and increased apoptosis. Increased pSMAD2 staining in ADCL fibroblasts indicated enhanced transforming growth factor beta (TGF-β) signaling. We conclude that ADCL is a systemic disease with cardiovascular and pulmonary complications, associated with increased TGF-β signaling and mutation-specific differences in endoplasmic reticulum stress and apoptosis.
PMID: 21309044
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