ライフサイエンスコーパス: osteogenesis imperfecta

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

2 RTAP deficiency is associated with recessive osteogenesis imperfecta.

3 s-akin to those occurring in mouse models of osteogenesis imperfecta.

4 ndard bone marrow transplantation for severe osteogenesis imperfecta.

5 very limited armamentarium of treatments for osteogenesis imperfecta.

6 tation that are also characteristic of human osteogenesis imperfecta.

7 lts in the dominant hereditary bone disorder osteogenesis imperfecta.

8 erones, have been described in patients with osteogenesis imperfecta.

9 rapeutic window and an approach for treating osteogenesis imperfecta.

10 initially suspected to have a severe type of osteogenesis imperfecta.

11 lin B or FKBP65 leads to a recessive form of osteogenesis imperfecta.

12 this paradigm shift in the understanding of osteogenesis imperfecta.

13 odded investigations into common pathways in osteogenesis imperfecta.

14 rded as a treatment option for children with osteogenesis imperfecta.

15 ls affected by osteoporosis or children with osteogenesis imperfecta.

16 pted as 'standard of care' for children with osteogenesis imperfecta.

17 hopedic approaches to care for children with osteogenesis imperfecta.

18 pe I collagen are common molecular causes of osteogenesis imperfecta.

19 cts inhibiting its formation cause recessive osteogenesis imperfecta.

20 the pathogenesis, diagnosis and treatment of osteogenesis imperfecta.

21 fective surgical management of children with osteogenesis imperfecta.

22 nction and comfort in treating children with osteogenesis imperfecta.

23 arrow transplantation in three children with osteogenesis imperfecta, a genetic disorder in which ost

24 a fish have phenotypic similarities to human osteogenesis imperfecta, a skeletal dysplasia caused by

25 Classic osteogenesis imperfecta, an autosomal dominant disorder

26 primarily in the connective tissue disorders osteogenesis imperfecta and Ehlers-Danlos syndrome types

27 trolled trial, children aged 4-15 years with osteogenesis imperfecta and increased fracture risk were

28 The proband has type III osteogenesis imperfecta and is heterozygous for a COL1A1

29 fer feasible posttransplantation therapy for osteogenesis imperfecta and likely other disorders origi

30 osts, and to increase bone mass in models of osteogenesis imperfecta and muscular dystrophy.

31 tes and aging; and mutations associated with osteogenesis imperfecta and other disorders show apparen

32 ibility of this strategy in the treatment of osteogenesis imperfecta and perhaps other mesenchymal st

33 In some osteopenic states, such as osteogenesis imperfecta and selected animal models for b

34 d treatment, we describe the defects causing osteogenesis imperfecta and their mechanism and interrel

35 on, improve growth velocity in children with osteogenesis imperfecta, and ameliorate severe graft-ver

36 7 were reported in severe recessive forms of osteogenesis imperfecta, and homozygous knockout is leth

37 Seal mice represent a model of human osteogenesis imperfecta, and reveal a previously unknown

38 ecurrent clinical fractures in children with osteogenesis imperfecta, and the drug was generally well

39 Children with osteogenesis imperfecta are often treated with intraveno

40 c discoveries has created a new paradigm for osteogenesis imperfecta as a collagen-related disorder,

41 ell as to mild, moderate, or lethal forms of osteogenesis imperfecta as a consequence of skipping of

42 Thus, chihuahua accurately models osteogenesis imperfecta at the biologic and molecular le

43 had a phenotype of fragile bones resembling osteogenesis imperfecta because they expressed a human m

44 s; its phenotype overlaps with lethal/severe osteogenesis imperfecta but has distinctive features.

45 rted here may play a role in the etiology of osteogenesis imperfecta by affecting collagen secretion

46 Our findings may explain why osteogenesis imperfecta-causing mutations in both genes

47 is shown for the connective tissue disorder Osteogenesis Imperfecta (characterized by abnormal assem

48 n the major fibrillar collagen genes lead to osteogenesis imperfecta (COL1A1 and COL1A2 encoding the

49 l myostatin deficiency to a mouse model with osteogenesis imperfecta (Col1a2(oim)), a heritable conne

50 m individuals with the brittle bone disorder osteogenesis imperfecta, demonstrating successful gene t

51 that osteoblasts derived from patients with osteogenesis imperfecta did not exhibit facets of a pre-

52 rphogenetic protein 1 (BMP1) causes type XII osteogenesis imperfecta due to altered collagen maturati

53 d partial answers to questions about 'other' osteogenesis imperfecta genes in patients with an osteog

54 s in severe/lethal and recessively inherited osteogenesis imperfecta has provided partial answers to

55 en demonstrated in collagen diseases such as osteogenesis imperfecta in which the mutation leads to t

56 e I homotrimers cause severe bone pathology (osteogenesis imperfecta) in humans and in animals.

57 ated with the clinical spectrum of recessive osteogenesis imperfecta, including the type II and VII f

58 Twenty had osteoporosis in one leg, nine had osteogenesis imperfecta (IO), and eight had vitamin D-re

59 Osteogenesis imperfecta is a heritable disorder that cau

60 Osteogenesis imperfecta is a phenotypically and molecula

61 The hereditary bone disorder osteogenesis imperfecta is often caused by missense muta

62 isorders, among them Ehlers-Danlos syndrome, osteogenesis imperfecta, Marfan syndrome, and Larsen syn

63 dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumor

64 The osteogenesis imperfecta mouse (OIM), lacking procollagen

65 Structural dissimilarities between the osteogenesis imperfecta mouse and wild-type tissues lead

66 cture and passive mechanical function in the osteogenesis imperfecta murine (oim) model of pro-alpha2

67 a Gly residue is replaced by Ser to model an osteogenesis imperfecta mutation, the peptide with the N

68 onic lethality, and the scarcity of reported osteogenesis imperfecta mutations in this region.

69 n site may relate to the observed pattern of osteogenesis imperfecta mutations near the integrin bind

70 ia (n = 2), thanatophoric dysplasia (n = 1), osteogenesis imperfecta (n = 1), arthrogryposis (n = 2),

71 Osteogenesis imperfecta (OI or brittle bone disease) is

72 Mutations in WNT1 cause osteogenesis imperfecta (OI) and early-onset osteoporosi

73 In osteogenesis imperfecta (OI) and other collagen diseases

74 sm for the autosomal dominant bone dysplasia osteogenesis imperfecta (OI) are generally identified by

75 The majority of collagen mutations causing osteogenesis imperfecta (OI) are glycine substitutions t

76 sually lead to dominantly inherited forms of osteogenesis imperfecta (OI) by altering the triple heli

77 Adults with osteogenesis imperfecta (OI) have a high risk of fractur

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

79 More than 90% of people who have osteogenesis imperfecta (OI) have heterozygous mutations

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

81 Classical osteogenesis imperfecta (OI) is a bone disease caused by

82 Osteogenesis imperfecta (OI) is a collagen-related bone

83 Osteogenesis imperfecta (OI) is a genetic disorder in co

84 Osteogenesis imperfecta (OI) is a genetic disorder that

85 Osteogenesis imperfecta (OI) is a heritable bone disease

86 Osteogenesis imperfecta (OI) is a heritable connective t

87 Osteogenesis imperfecta (OI) is a heritable connective t

88 Osteogenesis imperfecta (OI) is a heritable disorder of

89 Osteogenesis imperfecta (OI) is a heritable disorder tha

90 Osteogenesis imperfecta (OI) is a heritable disorder, in

91 Osteogenesis imperfecta (OI) is a skeletal disorder prim

92 Osteogenesis imperfecta (OI) is an inherited brittle bon

93 Osteogenesis imperfecta (OI) is characterized by bone fr

94 -Gly repeat with a bulky amino acid leads to osteogenesis imperfecta (OI) of varying severity.

95 tients with OI/EDS form a distinct subset of osteogenesis imperfecta (OI) patients.

96 e are correlations between the severities of osteogenesis imperfecta (OI) phenotypes and changes in t

97 The inherited skeletal dysplasia osteogenesis imperfecta (OI) results in multiple fractur

98 lly identified in 10 unrelated families with osteogenesis imperfecta (OI) type 1.

99 ates the intra-nuclear fate of COL1A1 RNA in osteogenesis imperfecta (OI) Type I.

100 or bone tissue, the metabolic syndrome, and osteogenesis imperfecta (OI) type VI.

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

102 , respectively, two novel recessive forms of osteogenesis imperfecta (OI) with severe to lethal bone

103 gle amino acid change found in patients with osteogenesis imperfecta (OI), a disease characterized by

104 bone marrow transplantation (BMT) for severe osteogenesis imperfecta (OI), a genetic disorder charact

105 Osteogenesis imperfecta (OI), also known as brittle bone

106 The clinical severity of Osteogenesis Imperfecta (OI), also known as the brittle

107 Osteogenesis imperfecta (OI), or brittle bone disease, i

108 Osteogenesis imperfecta (OI), or brittle bone disease, o

109 n type I triple helix are the major cause of osteogenesis imperfecta (OI).

110 lls, we used fibroblasts from a patient with osteogenesis imperfecta (OI).

111 develop the first knock-in murine model for osteogenesis imperfecta (OI).

112 hich leads to a number of conditions such as osteogenesis imperfecta (OI).

113 ozymes as an approach to the gene therapy of osteogenesis imperfecta (OI).

114 al and genetic abnormalities associated with osteogenesis imperfecta (OI).

115 sion of the mutant type I collagen allele in osteogenesis imperfecta (OI).

116 r father, both affected with severe type III osteogenesis imperfecta (OI).

117 otease tolloid like 1 (TLL1) in mice lead to osteogenesis imperfecta (OI).

118 helix, lead to the hereditary bone disorder osteogenesis imperfecta (OI).

119 in the perinatal period to severe deforming osteogenesis imperfecta (OI).

120 mechanism underlying pathophysiology of the osteogenesis imperfecta (OI).

121 heir role in intermolecular interactions and osteogenesis imperfecta (OI).

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

123 striking clinical benefits in children with osteogenesis imperfecta (OI); however, the underlying me

124 Osteogenesis imperfecta or 'brittle bone disease' has ma

125 genesis imperfecta genes in patients with an osteogenesis imperfecta phenotype but no COL1A1 and COL1

126 essive mutations in both genes cause similar osteogenesis imperfecta phenotypes.

127 A 42-year-old premenopausal woman with osteogenesis imperfecta presents to the metabolic bone c

128 The treatment of osteogenesis imperfecta requires a multidisciplinary tea

129 ophilin-B, impair opsin biogenesis and cause osteogenesis imperfecta, respectively.

130 A recessive form of severe osteogenesis imperfecta that is not caused by mutations

131 We used a knockin model of human osteogenesis imperfecta, the Brittle IV (Brtl) mouse, in

132 n genes account for <10% of individuals with osteogenesis imperfecta, the characterization of these g

133 Dysplasias such as otosclerosis and osteogenesis imperfecta, the most frequent diseases with

134 ionship seen for type I collagen defects and osteogenesis imperfecta, the null allele in this family

135 row stromal cells were infused into a female osteogenesis imperfecta-transgenic mouse, fluorescense i

136 ail) referred for diagnosis or ruling out of osteogenesis imperfecta type I, a rare variant (rs140121

137 e bone fragility and a clinical diagnosis of osteogenesis imperfecta type IV, we identified two homoz

138 urrent mutation in the 5'-UTR of BRIL causes osteogenesis imperfecta type V.

139 pecific membrane protein that is involved in osteogenesis imperfecta type V.

140 s and improves bone plasticity in a model of osteogenesis imperfecta type VI via Wnt3a blockade.

141 d a recently proposed functional grouping of osteogenesis imperfecta types by shared mechanism to sim

142 in patients with recessive severe or lethal osteogenesis imperfecta types.

143 ein-65 (FKBP65) defects cause types X and XI osteogenesis imperfecta via aberrant collagen crosslinki

144 d factor (PEDF) defects cause types V and VI osteogenesis imperfecta via defective bone mineralizatio

145 and cyclophilin B (CYPB) cause types VII-IX osteogenesis imperfecta via defective collagen post-tran

146 family with 2 siblings affected by recessive osteogenesis imperfecta, we identified a homozygous nons

147 type I collagen result in autosomal dominant osteogenesis imperfecta, whereas mutations in either of

148 She has a daughter with osteogenesis imperfecta who is seen regularly in a speci

149 Three of 10 children with lethal or severe osteogenesis imperfecta, who did not have a primary coll

150 caused severe polycystic kidney disease and osteogenesis imperfecta with approximately 80% perinatal

151 roxylase 1 [P3H1]) cause autosomal recessive osteogenesis imperfecta with rhizomelia (shortening of p

152 We identified two siblings who had recessive osteogenesis imperfecta without rhizomelia.