ライフサイエンスコーパス: imperfecta

1 ular matrix stiffness (e.g., in osteogenesis imperfecta).

2 dard of care' for children with osteogenesis imperfecta.

3 aches to care for children with osteogenesis imperfecta.

4 are common molecular causes of osteogenesis imperfecta.

5 ts in KLK4 cause hypomaturation amelogenesis imperfecta.

6 g its formation cause recessive osteogenesis imperfecta.

7 sis, diagnosis and treatment of osteogenesis imperfecta.

8 cal management of children with osteogenesis imperfecta.

9 mfort in treating children with osteogenesis imperfecta.

10 n gene cause autosomal dominant amelogenesis imperfecta.

11 sive hypoplastic-hypomaturation amelogenesis imperfecta.

12 2(oim) mutation (oim) express dentinogenesis imperfecta.

13 cy is associated with recessive osteogenesis imperfecta.

14 een identified in kindreds with amelogenesis imperfecta.

15 d autosomally dominant cases of amelogenesis imperfecta.

16 rouped under the classification amelogenesis imperfecta.

17 se occurring in mouse models of osteogenesis imperfecta.

18 rrow transplantation for severe osteogenesis imperfecta.

19 or family-specific diagnosis of amelogenesis imperfecta.

20 gene in kindreds suffering from amelogenesis imperfecta.

21 armamentarium of treatments for osteogenesis imperfecta.

22 in some cases of human X-linked amelogenesis imperfecta.

23 such as dentin dysplasia and dentinogenesis imperfecta.

24 ied in a case of human X-linked amelogenesis imperfecta.

25 re also characteristic of human osteogenesis imperfecta.

26 minant hereditary bone disorder osteogenesis imperfecta.

27 th the diagnosis of hypoplastic amelogenesis imperfecta.

28 been described in patients with osteogenesis imperfecta.

29 ow and an approach for treating osteogenesis imperfecta.

30 pected to have a severe type of osteogenesis imperfecta.

31 65 leads to a recessive form of osteogenesis imperfecta.

32 m shift in the understanding of osteogenesis imperfecta.

33 gations into common pathways in osteogenesis imperfecta.

34 Amelx and Mmp20 mutations cause amelogenesis imperfecta.

35 atment option for children with osteogenesis imperfecta.

36 y osteoporosis or children with osteogenesis imperfecta.

37 antation in three children with osteogenesis imperfecta, a genetic disorder in which osteoblasts prod

38 in GPR68 in three families with amelogenesis imperfecta, a genetically and phenotypically heterogeneo

39 henotypic similarities to human osteogenesis imperfecta, a skeletal dysplasia caused by mutations in

40 utosomal-dominant hypocalcified amelogenesis imperfecta (ADHCAI), which is typically characterized by

41 utosomal-dominant hypocalcified amelogenesis imperfecta (ADHCAI).

42 4) and SLC24A5 (NCKX5) genes to amylogenesis imperfecta (AI) and non-syndromic oculocutaneous albinis

43 The Amelogenesis Imperfecta (AI) are a group of clinically and geneticall

44 Amelogenesis Imperfecta (AI) can be caused by the deficiencies of ena

45 Amelogenesis imperfecta (AI) describes a broad group of clinically an

46 Amelogenesis imperfecta (AI) describes a clinically and genetically h

47 Amelogenesis imperfecta (AI) describes a heterogeneous group of inher

48 Patients with amelogenesis imperfecta (AI) have defective enamel; therefore, bonded

49 to an enamel defect similar to amelogenesis imperfecta (AI) in humans, we generated transgenic mice

50 hypoplastic autosomal-recessive amelogenesis imperfecta (AI) in individuals from six apparently unrel

51 Amelogenesis imperfecta (AI) is a broad group of hereditary enamel de

52 Non-syndromic amelogenesis imperfecta (AI) is a collection of isolated inherited en

53 Amelogenesis imperfecta (AI) is a collective term for failure of norm

54 Amelogenesis imperfecta (AI) is a group of inherited conditions featu

55 Amelogenesis imperfecta (AI) is a group of inherited defects of denta

56 Amelogenesis imperfecta (AI) is a heterogeneous group of genetic cond

57 Amelogenesis imperfecta (AI) is a heterogeneous group of genetic diso

58 Amelogenesis imperfecta (AI) is a heterogeneous group of inherited di

59 Amelogenesis imperfecta (AI) is group of inherited disorders resultin

60 ene involved in the etiology of amelogenesis imperfecta (AI) that does not encode a secreted protein.

61 ed cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI) was first reported by Jalili and Smith i

62 ith brachyolmia and hypoplastic amelogenesis imperfecta (AI) with almost absent enamel.

63 A mutations are associated with Amelogenesis Imperfecta (AI) with gingival hyperplasia and nephrocalc

64 in which pitted hypomineralized amelogenesis imperfecta (AI) with premature enamel failure segregated

65 se of recessive hypomineralized amelogenesis imperfecta (AI), a disease in which the formation of too

66 me candidate in the etiology of amelogenesis imperfecta (AI), a genetic disease in which defects of e

67 evere enamel defects that mimic amelogenesis imperfecta (AI), with a rough, irregular enamel surface.

68 been found to cause hypoplastic amelogenesis imperfecta (AI), with phenotypes ranging from localized

69 inherited tooth enamel defect, amelogenesis imperfecta (AI).

70 clinical diagnosis of X-linked amelogenesis imperfecta (AI).

71 o an autosomal-dominant form of amelogenesis imperfecta (AI).

72 that are collectively known as amelogenesis imperfecta (AI).

73 es with generalized hypoplastic amelogenesis imperfecta (AI).

74 h enamel that phenocopies human amelogenesis imperfecta (AI).

75 itions is collectively known as amelogenesis imperfecta (AI).

76 the enamelin gene (ENAM) cause amelogenesis imperfecta (AI).

77 'Amelogenesis imperfecta' (AI) describes a group of inherited diseases

78 Classic osteogenesis imperfecta, an autosomal dominant disorder associated wi

79 the connective tissue disorders osteogenesis imperfecta and Ehlers-Danlos syndrome types VIIA and VII

80 , children aged 4-15 years with osteogenesis imperfecta and increased fracture risk were randomly ass

81 The proband has type III osteogenesis imperfecta and is heterozygous for a COL1A1 IVS 41 A(+4)

82 posttransplantation therapy for osteogenesis imperfecta and likely other disorders originating in mes

83 increase bone mass in models of osteogenesis imperfecta and muscular dystrophy.

84 ; and mutations associated with osteogenesis imperfecta and other disorders show apparently nonrandom

85 is strategy in the treatment of osteogenesis imperfecta and perhaps other mesenchymal stem cell disor

86 some osteopenic states, such as osteogenesis imperfecta and selected animal models for bone fragility

87 we describe the defects causing osteogenesis imperfecta and their mechanism and interrelations, and c

88 ic enamel malformations, termed amelogenesis imperfecta, and ablation of Mmp20 in mice results in thi

89 rowth velocity in children with osteogenesis imperfecta, and ameliorate severe graft-versus-host dise

90 ed in severe recessive forms of osteogenesis imperfecta, and homozygous knockout is lethal in mice.

91 mice represent a model of human osteogenesis imperfecta, and reveal a previously unknown mechanism fo

92 ical fractures in children with osteogenesis imperfecta, and the drug was generally well tolerated.

93 genes cause autosomal-recessive amelogenesis imperfecta (ARAI).

94 Children with osteogenesis imperfecta are often treated with intravenous bisphospho

95 has created a new paradigm for osteogenesis imperfecta as a collagen-related disorder, where most ca

96 d, moderate, or lethal forms of osteogenesis imperfecta as a consequence of skipping of other exons.

97 us, chihuahua accurately models osteogenesis imperfecta at the biologic and molecular levels, and wil

98 ype of fragile bones resembling osteogenesis imperfecta because they expressed a human minigene for t

99 ype overlaps with lethal/severe osteogenesis imperfecta but has distinctive features.

100 play a role in the etiology of osteogenesis imperfecta by affecting collagen secretion or interactio

101 Our findings may explain why osteogenesis imperfecta-causing mutations in both genes result in sim

102 the connective tissue disorder Osteogenesis Imperfecta (characterized by abnormal assembly of type I

103 ibrillar collagen genes lead to osteogenesis imperfecta (COL1A1 and COL1A2 encoding the chains of Typ

104 eficiency to a mouse model with osteogenesis imperfecta (Col1a2(oim)), a heritable connective tissue

105 with the brittle bone disorder osteogenesis imperfecta, demonstrating successful gene targeting in a

106 Dentinogenesis imperfecta (DGI) and dentin dysplasia (DD) are allelic d

107 Dentinogenesis imperfecta (DGI) and dentin dysplasia (DD) are allelic d

108 Dentinogenesis imperfecta (DGI) is characterized by discolored teeth wi

109 asts derived from patients with osteogenesis imperfecta did not exhibit facets of a pre-mature aging,

110 rotein 1 (BMP1) causes type XII osteogenesis imperfecta due to altered collagen maturation/processing

111 wers to questions about 'other' osteogenesis imperfecta genes in patients with an osteogenesis imperf

112 ethal and recessively inherited osteogenesis imperfecta has provided partial answers to questions abo

113 editary dental disorders like dentinogenesis imperfecta II (MIM 125420) and dentin dysplasia (MIM 125

114 candidate gene implicated in dentinogenesis imperfecta II (MIM 125420), is significantly down-regula

115 gene were identified in human dentinogenesis imperfecta II (Online Mendelian Inheritance in Man (OMIM

116 ooth defects similar to human dentinogenesis imperfecta III with enlarged pulp chambers, increased wi

117 features of the human disease dentinogenesis imperfecta III.

118 ogenin (TgP70T), which leads to amelogenesis imperfecta in humans, have heterogeneous enamel structur

119 ed in collagen diseases such as osteogenesis imperfecta in which the mutation leads to the substituti

120 rs cause severe bone pathology (osteogenesis imperfecta) in humans and in animals.

121 played a phenotype similar to dentinogenesis imperfecta, including decreased dentin mineral density,

122 clinical spectrum of recessive osteogenesis imperfecta, including the type II and VII forms.

123 teoporosis in one leg, nine had osteogenesis imperfecta (IO), and eight had vitamin D-resistant ricke

124 Osteogenesis imperfecta is a heritable disorder that causes bone frag

125 Osteogenesis imperfecta is a phenotypically and molecularly heterogen

126 The hereditary bone disorder osteogenesis imperfecta is often caused by missense mutations in type

127 ng them Ehlers-Danlos syndrome, osteogenesis imperfecta, Marfan syndrome, and Larsen syndrome, are ch

128 X-linked amelogenesis imperfecta (MIM 301200), a phenotypically diverse heredi

129 xtracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis

130 The osteogenesis imperfecta mouse (OIM), lacking procollagen-alpha2(I) ex

131 ral dissimilarities between the osteogenesis imperfecta mouse and wild-type tissues lead to significa

132 sive mechanical function in the osteogenesis imperfecta murine (oim) model of pro-alpha2(I) collagen

133 is replaced by Ser to model an osteogenesis imperfecta mutation, the peptide with the N-terminal (GP

134 y, and the scarcity of reported osteogenesis imperfecta mutations in this region.

135 late to the observed pattern of osteogenesis imperfecta mutations near the integrin binding site.

136 hanatophoric dysplasia (n = 1), osteogenesis imperfecta (n = 1), arthrogryposis (n = 2), and short-li

137 sorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-o

138 Osteogenesis imperfecta (OI or brittle bone disease) is a disorder of

139 Mutations in WNT1 cause osteogenesis imperfecta (OI) and early-onset osteoporosis, identifyin

140 In osteogenesis imperfecta (OI) and other collagen diseases, single base

141 tosomal dominant bone dysplasia osteogenesis imperfecta (OI) are generally identified by having more

142 y of collagen mutations causing osteogenesis imperfecta (OI) are glycine substitutions that disrupt f

143 o dominantly inherited forms of osteogenesis imperfecta (OI) by altering the triple helical domains,

144 Adults with osteogenesis imperfecta (OI) have a high risk of fracture.

145 Although >90% of patients with osteogenesis imperfecta (OI) have been estimated to have mutations in

146 ore than 90% of people who have osteogenesis imperfecta (OI) have heterozygous mutations in one of th

147 I collagen cause mild to severe osteogenesis imperfecta (OI) in humans and mice.

148 Classical osteogenesis imperfecta (OI) is a bone disease caused by type I colla

149 Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia.

150 Osteogenesis imperfecta (OI) is a genetic disorder in collagen charac

151 Osteogenesis imperfecta (OI) is a genetic disorder that results in lo

152 Osteogenesis imperfecta (OI) is a heritable bone disease with dominan

153 Osteogenesis imperfecta (OI) is a heritable connective tissue disease

154 Osteogenesis imperfecta (OI) is a heritable connective tissue disorde

155 Osteogenesis imperfecta (OI) is a heritable disorder of connective ti

156 Osteogenesis imperfecta (OI) is a heritable disorder that ranges in s

157 Osteogenesis imperfecta (OI) is a heritable disorder, in both a domin

158 Osteogenesis imperfecta (OI) is a skeletal disorder primarily caused

159 Osteogenesis imperfecta (OI) is an inherited brittle bone disorder ch

160 Osteogenesis imperfecta (OI) is characterized by bone fragility and f

161 ith a bulky amino acid leads to osteogenesis imperfecta (OI) of varying severity.

162 Ostoegenesis imperfecta (OI) or "brittle bone" disease is associated

163 I/EDS form a distinct subset of osteogenesis imperfecta (OI) patients.

164 tions between the severities of osteogenesis imperfecta (OI) phenotypes and changes in the residues n

165 he inherited skeletal dysplasia osteogenesis imperfecta (OI) results in multiple fractures and is cur

166 d in 10 unrelated families with osteogenesis imperfecta (OI) type 1.

167 a-nuclear fate of COL1A1 RNA in osteogenesis imperfecta (OI) Type I.

168 SERPINF1 gene, are the cause of osteogenesis imperfecta (OI) type VI.

169 ue, the metabolic syndrome, and osteogenesis imperfecta (OI) type VI.

170 y, two novel recessive forms of osteogenesis imperfecta (OI) with severe to lethal bone dysplasia and

171 d change found in patients with osteogenesis imperfecta (OI), a disease characterized by fragile bone

172 ransplantation (BMT) for severe osteogenesis imperfecta (OI), a genetic disorder characterized by def

173 Osteogenesis imperfecta (OI), also known as brittle bone disease, is

174 The clinical severity of Osteogenesis Imperfecta (OI), also known as the brittle bone disease,

175 Osteogenesis imperfecta (OI), or brittle bone disease, is most often

176 Osteogenesis imperfecta (OI), or brittle bone disease, often results

177 intermolecular interactions and osteogenesis imperfecta (OI).

178 le helix are the major cause of osteogenesis imperfecta (OI).

179 fibroblasts from a patient with osteogenesis imperfecta (OI).

180 first knock-in murine model for osteogenesis imperfecta (OI).

181 a number of conditions such as osteogenesis imperfecta (OI).

182 approach to the gene therapy of osteogenesis imperfecta (OI).

183 c abnormalities associated with osteogenesis imperfecta (OI).

184 utant type I collagen allele in osteogenesis imperfecta (OI).

185 h affected with severe type III osteogenesis imperfecta (OI).

186 d like 1 (TLL1) in mice lead to osteogenesis imperfecta (OI).

187 to the hereditary bone disorder osteogenesis imperfecta (OI).

188 atal period to severe deforming osteogenesis imperfecta (OI).

189 derlying pathophysiology of the osteogenesis imperfecta (OI).

190 result in a distinct alpha1(I)-osteogenesis imperfecta (OI)/EDS phenotype.

191 nical benefits in children with osteogenesis imperfecta (OI); however, the underlying mechanism of th

192 Osteogenesis imperfecta or 'brittle bone disease' has mainly been con

193 in some cases of human X-linked amelogenesis imperfecta or when tyrosyl residues were substituted wit

194 in some cases of human X-linked amelogenesis imperfecta or when tyrosyl residues were substituted wit

195 ilar to those in enamel of male amelogenesis imperfecta patients with an identical mutation.

196 fecta genes in patients with an osteogenesis imperfecta phenotype but no COL1A1 and COL1A2 mutations.

197 ons in both genes cause similar osteogenesis imperfecta phenotypes.

198 ar-old premenopausal woman with osteogenesis imperfecta presents to the metabolic bone clinic.

199 The treatment of osteogenesis imperfecta requires a multidisciplinary team to maximize

200 pair opsin biogenesis and cause osteogenesis imperfecta, respectively.

201 orms of the human enamel defect amelogenesis imperfecta resulting from amelogenin gene mutations.

202 ccompanied by bone deformity, dentinogenesis imperfecta, short stature, and shortened life span.

203 A recessive form of severe osteogenesis imperfecta that is not caused by mutations in type I col

204 e used a knockin model of human osteogenesis imperfecta, the Brittle IV (Brtl) mouse, in which defect

205 nt for <10% of individuals with osteogenesis imperfecta, the characterization of these genes has iden

206 lasias such as otosclerosis and osteogenesis imperfecta, the most frequent diseases with radiologic f

207 for type I collagen defects and osteogenesis imperfecta, the null allele in this family appears to ca

208 ells were infused into a female osteogenesis imperfecta-transgenic mouse, fluorescense in situ hybrid

209 for diagnosis or ruling out of osteogenesis imperfecta type I, a rare variant (rs140121121) in PLS3

210 Dentinogenesis Imperfecta type II (DGI-II) is a localized form of mesod

211 if DGI-III co-localized with dentinogenesis imperfecta type II (DGI-II), which has been localized to

212 were performed on normal and dentinogenesis imperfecta type II (DI-II) teeth.

213 a position equivalent to the dentinogenesis imperfecta type II location on human 4q21 all suggest th

214 ecent studies have shown that dentinogenesis imperfecta type II results from mutation of the bicistro

215 ed chromosomal location with, dentinogenesis imperfecta type II, a second disorder of dentine mineral

216 gene for the genetic disease dentinogenesis imperfecta type II.

217 Dentinogenesis imperfecta type III (DGI-III) is an autosomal-dominant d

218 ity and a clinical diagnosis of osteogenesis imperfecta type IV, we identified two homozygous variant

219 on in the 5'-UTR of BRIL causes osteogenesis imperfecta type V.

220 ane protein that is involved in osteogenesis imperfecta type V.

221 s bone plasticity in a model of osteogenesis imperfecta type VI via Wnt3a blockade.

222 proposed functional grouping of osteogenesis imperfecta types by shared mechanism to simplify current

223 with recessive severe or lethal osteogenesis imperfecta types.

224 5) defects cause types X and XI osteogenesis imperfecta via aberrant collagen crosslinking, folding,

225 F) defects cause types V and VI osteogenesis imperfecta via defective bone mineralization, while defe

226 lin B (CYPB) cause types VII-IX osteogenesis imperfecta via defective collagen post-translational mod

227 siblings affected by recessive osteogenesis imperfecta, we identified a homozygous nonsense mutation

228 en result in autosomal dominant osteogenesis imperfecta, whereas mutations in either of two component

229 genin observed in patients with amelogenesis imperfecta who demonstrate defects in enamel formation.

230 She has a daughter with osteogenesis imperfecta who is seen regularly in a specialist pediatr

231 children with lethal or severe osteogenesis imperfecta, who did not have a primary collagen defect y

232 e polycystic kidney disease and osteogenesis imperfecta with approximately 80% perinatal lethality, w

233 3H1]) cause autosomal recessive osteogenesis imperfecta with rhizomelia (shortening of proximal segme

234 two siblings who had recessive osteogenesis imperfecta without rhizomelia.

235 inheritance pattern of X-linked amelogenesis imperfecta (XAI).