|
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
[Two gene mutations in fibrillin 1 of Marfan syndrome].
|
17680538 |
2007 |
|
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
[Novel mutation of fibrillin 1 gene cause ectopia lentis in a Chinese family].
|
15733436 |
2004 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
[Clinical and Genetic Characteristics of Russian Marfan Patients].
|
26410935 |
2015 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
With regard to MFS-causing FBN1, recent reports have shown significantly increased risk of aortic events in patients carrying a truncating variant or a variant exhibiting a haploinsufficient-type effect, typically comprising nonsense or small insertions/deletions resulting in out-of-frame effects, compared to those carrying a variant with dominant negative-type effect, typically comprising missense variants.
|
31000321 |
2019 |
|
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.
|
26272055 |
2015 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.
|
24501682 |
2013 |
|
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases.
|
17224687 |
2007 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases.
|
17224687 |
2007 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
While mutations causing classic manifestations of Marfan syndrome have been identified throughout the FBN1 gene, the six previously characterized mutations resulting in the severe, perinatal lethal form of Marfan syndrome have clustered in exons 24-32 of the gene.
|
8882780 |
1996 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
While FBN1 mutations, abnormal transforming growth factor-β signaling and dysregulated matrix metalloproteinases have been implicated in MFS, clinically accepted risk-stratifying biomarkers have yet to be reliably identified.
|
25863307 |
2015 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We used this model as a sensitized indicator system to examine the impact of homocysteine on the progression of TAA.<b>Methods:</b> Murine fibrillin 1 gene (<i>Fbn1</i>)<sup>C1039G/+</sup> MFS and C57BL/6J wild-type mice were fed a cobalamin-restricted diet to induce moderate hyperhomocysteinemia from weaning until the age of 32 wk.
|
28539414 |
2017 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We used a mouse model to test whether SMC TGF-β signaling is perturbed by a fibrillin-1 variant that causes MFS and whether blockade of SMC TGF-β signaling prevents MFS-associated aortopathy.
|
28119285 |
2017 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We used a ligature-induced (LI) periodontal disease model in fbn-1-deficient mice (fbn-1<sup>c1039G/+</sup> mice) with MFS and investigated the regeneration level of periodontal tissue and as an inflamatic marker, the expression of the matrix metalloproteinase (mmp)-9 and tumor necrosis factor (tnf)-α.
|
29547877 |
2018 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
We suggest that differences in normal FBN1 expression could contribute to the clinical variability seen in this family with MFS, and should be considered as a potential modifier of phenotype in other cases of MFS.
|
12915484 |
2003 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We suggest a specific clinical entity characterized by progeroid facial features, lipodystrophy, and at least some clinical signs of Marfan syndrome is associated with a subset of mutations located at the 3' end of FBN1.
|
21594993 |
2011 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We show that substitutions in fibrillin-1 domains TB4 and TB5 that cause SSS and the acromelic dysplasias do not prevent fibrillin-1 from being secreted or assembled into microfibrils, whereas MFS-associated substitutions in these domains result in a loss of recombinant protein in the culture medium and no association with microfibrils.
|
25979247 |
2015 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
We show that substitutions in fibrillin-1 domains TB4 and TB5 that cause SSS and the acromelic dysplasias do not prevent fibrillin-1 from being secreted or assembled into microfibrils, whereas MFS-associated substitutions in these domains result in a loss of recombinant protein in the culture medium and no association with microfibrils.
|
25979247 |
2015 |
|
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
We show that substitutions in fibrillin-1 domains TB4 and TB5 that cause SSS and the acromelic dysplasias do not prevent fibrillin-1 from being secreted or assembled into microfibrils, whereas MFS-associated substitutions in these domains result in a loss of recombinant protein in the culture medium and no association with microfibrils.
|
25979247 |
2015 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We screened TGFBR2 gene by direct automated sequencing in two adult patients diagnosed with MFS according to Ghent criteria, and in one girl clinically suspected as affected on the basis of a major cardiovascular criterion and skeletal involvement, all proven not to carry mutations in the exon-intron boundaries of FBN1 gene.
|
16251899 |
2006 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We reviewed the clinical and molecular data of 171 consecutive patients referred for FBN1 analysis because either MFS was diagnosed or they had signs suggestive of MFS.
|
11700157 |
2001 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report here the largest known de novo and out of frame deletion in the fibrillin-1 gene in a patient fulfilling the diagnostic criteria of Marfan syndrome.
|
17189636 |
2007 |
|
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
We recommend that echocardiogram, ocular examination and FBN1 molecular testing be considered for any patients with possible MFS even in the absence of skeletal features, including Hispanic patients.
|
19941982 |
2010 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We recommend that echocardiogram, ocular examination and FBN1 molecular testing be considered for any patients with possible MFS even in the absence of skeletal features, including Hispanic patients.
|
19941982 |
2010 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
We recommend that echocardiogram, ocular examination and FBN1 molecular testing be considered for any patients with possible MFS even in the absence of skeletal features, including Hispanic patients.
|
19941982 |
2010 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We recommend that echocardiogram, ocular examination and FBN1 molecular testing be considered for any patients with possible MFS even in the absence of skeletal features, including Hispanic patients.
|
19941982 |
2010 |