ライフサイエンスコーパス: Marfan syndrome

1 ere forms of the Marfan syndrome ("neonatal" Marfan syndrome).

2 tions lead to clinical features unrelated to Marfan syndrome.

3 atients) had physical features suggestive of Marfan syndrome.

4 lt in the dominant connective tissue disease Marfan syndrome.

5 ad to alternative therapeutic strategies for Marfan syndrome.

6 , which recapitulate the most severe form of Marfan syndrome.

7 ecapitulates the pulmonary features of human Marfan syndrome.

8 Recurrent AD is strongly associated with Marfan syndrome.

9 tic wall of a mouse model of neonatal lethal Marfan syndrome.

10 ted individuals meets the Ghent criteria for Marfan syndrome.

11 ved ORA variables successfully discriminated Marfan syndrome.

12 families with familial TAAD who did not have Marfan syndrome.

13 erlying connective tissue disorders like the Marfan syndrome.

14 ween age groups were not entirely related to Marfan syndrome.

15 Fifty patients had Marfan syndrome.

16 ficient in fibrillin-1, an accepted model of Marfan syndrome.

17 rs evaluated met the diagnostic criteria for Marfan syndrome.

18 l density has been reported in patients with Marfan syndrome.

19 ey shifted inferiorly with gaze elevation in Marfan syndrome.

20 ervation was accentuated among patients with Marfan syndrome.

21 nts in the genetic and orthopedic aspects of Marfan syndrome.

22 sponsible for the clinical manifestations of Marfan syndrome.

23 ndings in elastic vessels from patients with Marfan syndrome.

24 om fibrillin-1, the defective protein in the Marfan syndrome.

25 ; and physical stigmata or family history of Marfan syndrome.

26 f outcome of this operation in patients with Marfan syndrome.

27 cellular matrix protein that is defective in Marfan syndrome.

28 isrupted in all three zones in patients with Marfan syndrome.

29 rt rhythm, peripheral pulses, or stigmata of Marfan syndrome.

30 lly similar to but genetically distinct from Marfan syndrome.

31 sorder that is phenotypically related to the Marfan syndrome.

32 dissections in patients who do not have the Marfan syndrome.

33 ic aneurysms in patients who do not have the Marfan syndrome.

34 oracic aortic aneurysms who did not have the Marfan syndrome.

35 ic valve-sparing operations in patients with Marfan syndrome.

36 re a major clinical problem in patients with Marfan syndrome.

37 ly different from that seen in patients with Marfan syndrome.

38 ct type B aortic dissection in patients with Marfan syndrome.

39 risk for type B dissection in patients with Marfan syndrome.

40 n reduces aortic dilatation in patients with Marfan syndrome.

41 e arterial tree and phenotypically resembles Marfan syndrome.

42 dissection in multiple disorders, including Marfan syndrome.

43 lerated aneurysm growth in a murine model of Marfan syndrome.

44 re more prevalent in adults than children in Marfan syndrome.

45 tection of aortic expansion in patients with Marfan syndrome.

46 calculated in a subgroup of 22 patients with Marfan syndrome.

47 fter previous aortic repair in patients with Marfan syndrome.

48 iated with thoracic aortic aneurysm (TAA) in Marfan syndrome.

49 mal bone growth activity in a mouse model of Marfan syndrome.

50 not previously reported as causing classical Marfan syndrome.

51 d tested 248 probands with aortic disease or Marfan syndrome.

52 ration and regurgitation in a mouse model of Marfan syndrome.

53 ential for noninvasive clinical diagnosis of Marfan syndrome.

54 nd long-term clinical outcomes in women with Marfan syndrome.

55 with tricuspid valves unassociated with the Marfan syndrome.

56 All 9 patients (2 with Marfan syndrome, 1 with Takayasu's disease) with undiagn

57 diagnosed in late follow-up in patients with Marfan syndrome (10.8 +/- 4.4%) compared with those with

58 es type I and II (12q13.1-q13.3 and 6p21.3), Marfan syndrome (15q21.1), and juvenile glaucoma (chromo

59 ry or idiopathic ectopia lentis, 5 (29%) had Marfan syndrome, 2 (12%) were aphakic after pars plana v

60 s with recurrent AD were more likely to have Marfan syndrome (21.5% versus 3.1%; P<0.001) but not bic

61 st lone disease predictor was Concavity Min (Marfan syndrome 47.5 +/- 20, control 69 +/- 14, P = .003

62 on was significantly higher in patients with Marfan syndrome (5.5 +/- 2.7%) compared with those with

63 ients with aortic dissection type A, 74 with Marfan syndrome (58% men; median age, 37 years [first an

64 t has been known for more than a decade that Marfan syndrome - a dominantly inherited connective tiss

65 of the known mutations in fibrillin-1 cause Marfan syndrome, a number of other mutations lead to cli

66 ession of aortic aneurysm in mouse models of Marfan syndrome, a systemic disorder of the connective t

67 The vascular structural defects of Marfan syndrome, Alagille syndrome, neurofibromatosis, a

68 ations in the FBN1 gene are the cause of the Marfan syndrome, an autosomal dominant disorder with ske

69 2.8% (35 patients) had genetically confirmed Marfan syndrome and an additional 17.8% (232 patients) h

70 complications during pregnancy in women with Marfan syndrome and an aortic diameter <4.5 cm.

71 In addition to Marfan syndrome and aorta diameter, a large entry tear l

72 rtic dissection remains low in patients with Marfan syndrome and aortic diameter between 45 and 49 mm

73 fibrils, cause pleiotropic manifestations in Marfan syndrome and congenital contractural arachnodacty

74 implying distinct mechanisms of bone loss in Marfan syndrome and congenital contractural arachnodacty

75 Fibrillin-based human diseases such as Marfan syndrome and congenital contractural arachnodacty

76 sue have major cardiovascular complications, Marfan syndrome and Ehlers-Danlos syndrome type IV.

77 Patients undergoing AVS had higher rates of Marfan syndrome and lower rates of bicuspid aortic valve

78 Patients with the diagnosis of Marfan syndrome and magnetic resonance imaging or comput

79 Furthermore, patients with Marfan syndrome and other forms of inherited thoracic ao

80 opi infection in a patient with a history of Marfan syndrome and recreational feral swine hunting.

81 tations in the fibrillin-1 gene (FBN1) cause Marfan syndrome and related connective tissue disorders

82 In 81 patients with Marfan syndrome and seven healthy control subjects, aort

83 w discusses mutant-fibrillin mouse models of Marfan syndrome and SSc (Tsk mice), and studies suggesti

84 g a common pathogenesis of aortic disease in Marfan syndrome and STAAD.

85 ortic valves should not be extrapolated from Marfan syndrome and support discrete treatment algorithm

86 ated with aneurysm and dissection, including Marfan syndrome and the role of transforming growth fact

87 outcomes in a series of young patients with Marfan syndrome and to define the prevalence of ventricu

88 tions cause IEL or syndromic ectopia lentis (Marfan syndrome and Weill-Marchesani syndrome).

89 (2,079 with bicuspid aortic valves, 73 with Marfan syndrome, and 11,053 control patients with acquir

90 rs-Danlos syndrome, osteogenesis imperfecta, Marfan syndrome, and Larsen syndrome, are characterized

91 Ingenuity pathway analysis identified Marfan syndrome, aneurysm formation, LV dilatation, and

92 ces of osteoporosis and a single instance of Marfan syndrome are also the result of mutations at thes

93 to the pathophysiologic alterations seen in Marfan syndrome are highlighted.

94 rd type A aortic dissection in patients with Marfan syndrome are limited.

95 tegies to block TGF-beta, used in those with Marfan syndrome, are unlikely to be beneficial and could

96 The cardiovascular complications of Marfan syndrome arise due to alterations in the structur

97 (HLA) provided the best predictive value for Marfan syndrome (AUROC = 0.85).

98 treat aortic root aneurysm in patients with Marfan syndrome, based on relatively short-term outcomes

99 luding timing of surgery, remains debated in Marfan syndrome because of a lack of data on aortic risk

100 eness of familial aortic disease such as the Marfan syndrome, bicuspid aortic valve disease, and here

101 r, younger patients were more likely to have Marfan syndrome, bicuspid aortic valve, and prior aortic

102 nts have unique risk factors for dissection: Marfan syndrome, bicuspid aortic valves, and larger aort

103 AD) occur as part of known syndromes such as Marfan syndrome but can also be inherited in families in

104 amount of fibrillin expression in normal and Marfan syndrome capsules.

105 s of intact fibrillin-1, the consequences of Marfan syndrome causing mutations, and the ultrastructur

106 We have studied Marfan syndrome-causing mutations which affect calcium b

107 neal resistance factor (CRF) were decreased (Marfan syndrome CH 9.45 +/- 1.62, control CH 11.24 +/- 1

108 mes 12q13.1-q13.3 and 6p21.3, respectively), Marfan syndrome (chromosome 15q21.1), and juvenile glauc

109 e in age at surgery, dissection, or death in Marfan syndrome compared with LDS.

110 ications after AVR observed in patients with Marfan syndrome compared with those with bicuspid aortic

111 /- 1.62, control CH 11.24 +/- 1.21, P = .01; Marfan syndrome CRF 9.77 +/- 1.65, control CRF 11.03 +/-

112 (defective in coagulation factor IX) and the Marfan syndrome (defective in the connective tissue prot

113 as Klippel-Feil, familial dysautonomia, and Marfan syndrome demonstrate high rates of scoliotic defo

114 Mutations in fibrillin-1 (FBN1) result in Marfan syndrome, demonstrating a critical requirement fo

115 d has been extrapolated from experience with Marfan syndrome, despite the absence of comparative long

116 Seventy patients with Marfan syndrome diagnosed at birth to 52 years were foll

117 idia, albinism, anterior segment dysgenesis, Marfan syndrome, ectopia lentis, neurofibromatosis, reti

118 rs for Stickler syndrome types 1, 2, and 2B; Marfan syndrome; Ehlers-Danlos syndrome type 4; and juve

119 e the most severe phenotypes associated with Marfan syndrome (fibrillin-1) and congenital contractura

120 f echocardiograms, changing drug therapy for Marfan syndrome, follow-up of infant with complex corona

121 ckers (CCBs) are prescribed to patients with Marfan syndrome for prophylaxis against aortic aneurysm

122 ay underlie one of the major features of the Marfan syndrome: fragmentation of aortic elastic lamella

123 A total of 146 patients with Marfan syndrome had aortic valve-sparing operations.

124 Marfan syndrome has a variable phenotype, even within fa

125 enosis and the heart disease associated with Marfan syndrome has been clearly established.

126 ing technique, but its role in patients with Marfan syndrome has not previously been defined.

127 New insights regarding the pathogenesis of Marfan syndrome have developed from investigation of mur

128 A distinct subgroup of individuals with Marfan syndrome have distal airspace enlargement, histor

129 s of age and sex with phenotypic features of Marfan syndrome have not been systematically examined in

130 Fibrillin-1 mutations associated with Marfan syndrome have recently been shown to induce genes

131 ear size (HR: 1.1 [1.04-1.16]; P=0.001), and Marfan syndrome (HR: 3.66 [1.65-8.13]; P=0.001).

132 ents with a history of ectopia lentis due to Marfan syndrome, idiopathic causes, or hereditary causes

133 minating connective tissue disorders such as Marfan syndrome in the not-too-distant future.

134 ving or preventing several manifestations of Marfan syndrome in these mice, including aortic aneurysm

135 Cardiac manifestations of Marfan syndrome include aortic root dilation and mitral

136 The major orthopedic manifestations of Marfan syndrome include scoliosis, chest wall deformity,

137 features of corneal deformation responses in Marfan syndrome, including increased deformation, decrea

138 In multivariate analysis, the diagnosis of Marfan syndrome independently predicted recurrent AD (ha

139 observed in aneurysms forming in those with Marfan syndrome, inhibition of TGF-beta would worsen inf

140 predictors of late death (P< or =0.005), and Marfan syndrome, initial valve-preserving aortic root re

141 Marfan syndrome is a common inherited disorder of connec

142 Marfan syndrome is a connective tissue disorder caused b

143 Marfan syndrome is an autosomal dominant disorder of con

144 Marfan syndrome is an autosomal dominant disorder of con

145 Type B dissection in patients with Marfan syndrome is associated with a high need for exten

146 Marfan syndrome is associated with early death due to ao

147 rgery for type A dissection in patients with Marfan syndrome is associated with low in-hospital morta

148 Pathogenesis of Marfan syndrome is currently thought to be driven by mec

149 and corneas were flatter in Marfan syndrome (Marfan syndrome Kmean 41.25 +/- 2.09 diopter, control Km

150 lysis of 90 patients </=50 years of age with Marfan syndrome, LDS, Ehlers-Danlos syndrome, or nonspec

151 A subset of patients with Marfan syndrome manifested multiple forms of vasculopath

152 - 1.72, P = .01) and corneas were flatter in Marfan syndrome (Marfan syndrome Kmean 41.25 +/- 2.09 di

153 ess of the clinical features associated with Marfan syndrome may facilitate earlier diagnosis and opt

154 ic dissections occurred in 600 patients with Marfan syndrome (mean age 36 +/- 14 years, 52% male).

155 In 22 patients with Marfan syndrome, mean aortic volume was increased at 3 y

156 er were assessed for discriminative value in Marfan syndrome, measuring right eyes of 24 control and

157 Bicuspid aortic valve (BAV) (39%) and Marfan syndrome (MFS) (22%) were the leading diagnoses i

158 Mice that harbor both a mutant Marfan syndrome (MFS) allele (Fbn1(C1039G/+)) and Tgfb2

159 NS-TAA) are incompletely defined compared to Marfan syndrome (MFS) and bicuspid aortic valve (BAV).

160 the autosomal dominant microfibrillopathies Marfan syndrome (MFS) and congenital contractural arachn

161 FBN1 gene, which encodes fibrillin-1, cause Marfan syndrome (MFS) and have been associated with a wi

162 presentations of aortic aneurysm, including Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS).

163 Marfan syndrome (MFS) and other type 1 fibrillinopathies

164 ons in the fibrillin-1 (FBN1) gene cause the Marfan syndrome (MFS) and related connective tissue diso

165 g is a major contributor to the pathology of Marfan syndrome (MFS) and related diseases.

166 issecting aortic aneurysm is the hallmark of Marfan syndrome (MFS) and the result of mutations in fib

167 ctor (TGF)-beta bioavailability/signaling in Marfan syndrome (MFS) changed the view of the extracellu

168 educed quality of life (QOL) for people with Marfan syndrome (MFS) compared with those without MFS.

169 Marfan syndrome (MFS) is a dominantly inherited disorder

170 Marfan syndrome (MFS) is a heritable connective tissue d

171 Marfan syndrome (MFS) is a heritable connective tissue d

172 Marfan syndrome (MFS) is a systemic connective tissue di

173 Marfan syndrome (MFS) is an autosomal dominant disorder

174 Marfan syndrome (MFS) is caused by mutations in the fibr

175 Marfan syndrome (MFS) is known to cause ascending thorac

176 mutation in the fibrillin-1 (FBN1) gene of a Marfan syndrome (MFS) patient induces in-frame exon skip

177 ice with reduced Fbn1 gene expression and of Marfan syndrome (MFS) patients with heterozygous fibrill

178 ometric findings of adults and children with Marfan syndrome (MFS) recruited from 2 annual National M

179 the human fibrillin-1 gene, FBN1, result in Marfan syndrome (MFS), a common connective tissue disord

180 tations in the FBN1 gene are responsible for Marfan syndrome (MFS), a common systemic disorder of the

181 neurysm and dissection are manifestations of Marfan syndrome (MFS), a disorder caused by mutations in

182 rmalities that are similar to those found in Marfan syndrome (MFS), a heritable connective tissue dis

183 Marfan syndrome (MFS), a heritable connective tissue dis

184 pediatric and adult patients afflicted with Marfan syndrome (MFS), a multisystem disorder caused by

185 Patients with Marfan syndrome (MFS), a multisystem disorder caused by

186 in the human fibrillin-1 (FBN-1) gene cause Marfan syndrome (MFS), an autosomal dominant disease of

187 FBN1 mutations cause Marfan syndrome (MFS), an autosomal dominant disorder of

188 rmalities with many clinical features of the Marfan syndrome (MFS), an autosomal dominant disorder of

189 the context of genetic syndromes, including Marfan syndrome (MFS), an autosomal-dominant connective

190 progression in multiple disorders, including Marfan syndrome (MFS), and therapies that inhibit this s

191 ithin these proteins have been linked to the Marfan syndrome (MFS), CADASIL, protein S deficiency, ha

192 Many individuals with Marfan syndrome (MFS), caused by a deficiency of extrace

193 aneurysms and dissections (TAAD), including Marfan syndrome (MFS), currently lack a cure, and causat

194 as recently exemplified through the study of Marfan syndrome (MFS), including aortic aneurysm and ske

195 The Marfan syndrome (MFS), initially described just over 100

196 onnective tissue disorders (CTDs), including Marfan syndrome (MFS), systemic sclerosis (SSc) and Tigh

197 llular matrix (ECM) protein defective in the Marfan syndrome (MFS).

198 three disulfide bonds are frequent causes of Marfan syndrome (MFS).

199 an fibrillin-1, the protein defective in the Marfan syndrome (MFS).

200 nents of several genetic diseases, including Marfan syndrome (MFS).

201 -two patients (44% of the CVG group) had the Marfan syndrome (MFS).

202 ne lens is a common finding in patients with Marfan syndrome (MFS).

203 p of families exhibits traits reminiscent of Marfan syndrome (MFS).

204 disorders associated with EL, in particular Marfan syndrome (MFS).

205 and rupture of the aorta in a mouse model of Marfan syndrome (MFS).

206 in the gene for fibrillin 1 (FBN1) underlie Marfan syndrome (MS), a disorder characterized by lens d

207 The VTI was higher in Marfan syndrome (n=57, median 26; interquartile range 10

208 his region can result in severe forms of the Marfan syndrome ("neonatal" Marfan syndrome).

209 action, and five capsules from patients with Marfan syndrome obtained at intracapsular lens extractio

210 All patients with Marfan syndrome operated on for aortic root aneurysm fro

211 ng aorta: dissection, 28 patients (19%); the Marfan syndrome or its forme fruste variety, 15 patients

212 for the Stickler syndrome types 1 and 2, the Marfan syndrome, or the juvenile glaucoma loci.

213 nce (MR) images obtained in 48 patients with Marfan syndrome over a period of 2.3-9.4 years (mean, 5.

214 The Marfan syndrome patient undergoes care by many different

215 Retrospective analysis of 86 consecutive Marfan syndrome patients fulfilling Ghent criteria that

216 Marfan syndrome patients were more likely to dissect at

217 omplications are rare in young patients with Marfan syndrome receiving medical therapy and close clin

218 This distinguishes MSSE from the Marfan syndrome-related disorders in which missense muta

219 Marfan syndrome remains primarily a clinical diagnosis.

220 Marfan syndrome results from mutations in the FBN1 gene,

221 e, measuring right eyes of 24 control and 13 Marfan syndrome subjects.

222 ression in the lens capsule of patients with Marfan syndrome supported a causal relationship to lens

223 verlaps a previously mapped second locus for Marfan syndrome, termed the MFS2 locus.

224 e was significantly greater in patients with Marfan syndrome than in control subjects (104 mL/m(2); 9

225 a may be more relevant in the development of Marfan syndrome than mechanisms previously proposed in a

226 es of many of the genetic syndromes, such as Marfan syndrome, that predispose persons to thoracic aor

227 perations are feasible in most patients with Marfan syndrome; they are applicable to patients with bo

228 variants do not meet diagnostic criteria for Marfan syndrome, though variants are associated with tal

229 t data exist describing MVP in patients with Marfan syndrome undergoing aortic root replacement.

230 979, 82 patients (73.2% of all patients with Marfan syndrome undergoing resection of aneurysm of the

231 sudden death is a well-recognized outcome in Marfan syndrome, ventricular arrhythmias are not well de

232 Marfan syndrome was exclusively associated with dissecti

233 adult females with a confirmed diagnosis of Marfan syndrome was performed.

234 ic valve-sparing operations in patients with Marfan syndrome were associated with low rates of valve-

235 Seven hundred thirty-two patients with Marfan syndrome were followed up for a mean of 6.6 years

236 sports, family history of heart disease, or Marfan syndrome were included in 0% to 56% of the state

237 Patients with Marfan syndrome were significantly more likely to underg

238 nd long-term clinical outcomes in women with Marfan syndrome who are followed prospectively during pr

239 rgery and long-term results in patients with Marfan syndrome who suffered aortic dissection.

240 Although the majority of patients with Marfan syndrome who undergo elective aortic root replace

241 FBN1 mutations cause Marfan syndrome, whose major cardiovascular complication

242 g of the pathogenesis of vascular disease in Marfan syndrome will facilitate the development of thera

243 Patients with Marfan syndrome with prior prophylactic aortic surgery a

244 Most mutations in fibrillin-1 cause Marfan syndrome with severe cardiovascular and ocular sy