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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 g and causes the bone developmental disorder osteogenesis imperfecta.
8 ts into cell-based therapy for patients with Osteogenesis Imperfecta.
9 lts in the dominant hereditary bone disorder osteogenesis imperfecta.
10 erones, have been described in patients with osteogenesis imperfecta.
11 rapeutic window and an approach for treating osteogenesis imperfecta.
12 initially suspected to have a severe type of osteogenesis imperfecta.
13 lin B or FKBP65 leads to a recessive form of osteogenesis imperfecta.
14  this paradigm shift in the understanding of osteogenesis imperfecta.
15 odded investigations into common pathways in osteogenesis imperfecta.
16 x lead to pathologies including fibrosis and osteogenesis imperfecta.
17 rded as a treatment option for children with osteogenesis imperfecta.
18  of long bones, which are hallmarks of human osteogenesis imperfecta.
19 ls affected by osteoporosis or children with osteogenesis imperfecta.
20 pted as 'standard of care' for children with osteogenesis imperfecta.
21 hopedic approaches to care for children with osteogenesis imperfecta.
22 pe I collagen are common molecular causes of osteogenesis imperfecta.
23 cts inhibiting its formation cause recessive osteogenesis imperfecta.
24 the pathogenesis, diagnosis and treatment of osteogenesis imperfecta.
25 fective surgical management of children with osteogenesis imperfecta.
26 nction and comfort in treating children with osteogenesis imperfecta.
27 arrow transplantation in three children with osteogenesis imperfecta, a genetic disorder in which ost
28 a fish have phenotypic similarities to human osteogenesis imperfecta, a skeletal dysplasia caused by
29                                      Classic osteogenesis imperfecta, an autosomal dominant disorder
30 primarily in the connective tissue disorders osteogenesis imperfecta and Ehlers-Danlos syndrome types
31 trolled trial, children aged 4-15 years with osteogenesis imperfecta and increased fracture risk were
32                     The proband has type III osteogenesis imperfecta and is heterozygous for a COL1A1
33 fer feasible posttransplantation therapy for osteogenesis imperfecta and likely other disorders origi
34 osts, and to increase bone mass in models of osteogenesis imperfecta and muscular dystrophy.
35 tes and aging; and mutations associated with osteogenesis imperfecta and other disorders show apparen
36 ibility of this strategy in the treatment of osteogenesis imperfecta and perhaps other mesenchymal st
37           In some osteopenic states, such as osteogenesis imperfecta and selected animal models for b
38 d treatment, we describe the defects causing osteogenesis imperfecta and their mechanism and interrel
39 on, improve growth velocity in children with osteogenesis imperfecta, and ameliorate severe graft-ver
40 7 were reported in severe recessive forms of osteogenesis imperfecta, and homozygous knockout is leth
41         Seal mice represent a model of human osteogenesis imperfecta, and reveal a previously unknown
42 ecurrent clinical fractures in children with osteogenesis imperfecta, and the drug was generally well
43                                Children with osteogenesis imperfecta are often treated with intraveno
44 c discoveries has created a new paradigm for osteogenesis imperfecta as a collagen-related disorder,
45 ell as to mild, moderate, or lethal forms of osteogenesis imperfecta as a consequence of skipping of
46            Thus, chihuahua accurately models osteogenesis imperfecta at the biologic and molecular le
47  had a phenotype of fragile bones resembling osteogenesis imperfecta because they expressed a human m
48 e substitutions, analogous to those found in Osteogenesis Imperfecta (brittle bone disease), result i
49 s; its phenotype overlaps with lethal/severe osteogenesis imperfecta but has distinctive features.
50 d role of Smpd3 as a candidate gene of human osteogenesis imperfecta, but suggests SMPD3 deficiency a
51 rted here may play a role in the etiology of osteogenesis imperfecta by affecting collagen secretion
52                 Our findings may explain why osteogenesis imperfecta-causing mutations in both genes
53 ate the proteostasis defects associated with osteogenesis imperfecta-causing mutations within the col
54  is shown for the connective tissue disorder Osteogenesis Imperfecta (characterized by abnormal assem
55 n the major fibrillar collagen genes lead to osteogenesis imperfecta (COL1A1 and COL1A2 encoding the
56 l myostatin deficiency to a mouse model with osteogenesis imperfecta (Col1a2(oim)), a heritable conne
57 m individuals with the brittle bone disorder osteogenesis imperfecta, demonstrating successful gene t
58  that osteoblasts derived from patients with osteogenesis imperfecta did not exhibit facets of a pre-
59 rphogenetic protein 1 (BMP1) causes type XII osteogenesis imperfecta due to altered collagen maturati
60 d partial answers to questions about 'other' osteogenesis imperfecta genes in patients with an osteog
61 s in severe/lethal and recessively inherited osteogenesis imperfecta has provided partial answers to
62 en demonstrated in collagen diseases such as osteogenesis imperfecta in which the mutation leads to t
63 e I homotrimers cause severe bone pathology (osteogenesis imperfecta) in humans and in animals.
64 ated with the clinical spectrum of recessive osteogenesis imperfecta, including the type II and VII f
65 Twenty had osteoporosis in one leg, nine had osteogenesis imperfecta (IO), and eight had vitamin D-re
66                                              Osteogenesis imperfecta is a heritable disorder that cau
67                                              Osteogenesis imperfecta is a phenotypically and molecula
68                 The hereditary bone disorder osteogenesis imperfecta is often caused by missense muta
69 ic Col1 deletion in Fsp1(+) cells results in Osteogenesis Imperfecta-like phenotypes in adult mice, w
70 isorders, among them Ehlers-Danlos syndrome, osteogenesis imperfecta, Marfan syndrome, and Larsen syn
71 dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumor
72                                          The osteogenesis imperfecta mouse (OIM), lacking procollagen
73       Structural dissimilarities between the osteogenesis imperfecta mouse and wild-type tissues lead
74 cture and passive mechanical function in the osteogenesis imperfecta murine (oim) model of pro-alpha2
75 a Gly residue is replaced by Ser to model an osteogenesis imperfecta mutation, the peptide with the N
76 onic lethality, and the scarcity of reported osteogenesis imperfecta mutations in this region.
77 n site may relate to the observed pattern of osteogenesis imperfecta mutations near the integrin bind
78 ia (n = 2), thanatophoric dysplasia (n = 1), osteogenesis imperfecta (n = 1), arthrogryposis (n = 2),
79                                              Osteogenesis imperfecta (OI or brittle bone disease) is
80                      Mutations in WNT1 cause osteogenesis imperfecta (OI) and early-onset osteoporosi
81         Six genes linked to severe recessive osteogenesis imperfecta (OI) and four associated with bo
82                                           In osteogenesis imperfecta (OI) and other collagen diseases
83 sm for the autosomal dominant bone dysplasia osteogenesis imperfecta (OI) are generally identified by
84   The majority of collagen mutations causing osteogenesis imperfecta (OI) are glycine substitutions t
85 sually lead to dominantly inherited forms of osteogenesis imperfecta (OI) by altering the triple heli
86 pe I collagen alterations in mouse models of osteogenesis imperfecta (OI) cause similar abnormal lung
87                                              Osteogenesis imperfecta (OI) comprises a genetically het
88                     About 70% of people with osteogenesis imperfecta (OI) experience hearing loss.
89                                  Adults with osteogenesis imperfecta (OI) have a high risk of fractur
90               Although >90% of patients with osteogenesis imperfecta (OI) have been estimated to have
91             More than 90% of people who have osteogenesis imperfecta (OI) have heterozygous mutations
92  normal type I collagen cause mild to severe osteogenesis imperfecta (OI) in humans and mice.
93                                    Classical osteogenesis imperfecta (OI) is a bone disease caused by
94                                              Osteogenesis imperfecta (OI) is a collagen-related bone
95                                              Osteogenesis imperfecta (OI) is a genetic disorder in co
96                                              Osteogenesis imperfecta (OI) is a genetic disorder that
97                                              Osteogenesis imperfecta (OI) is a genetic disorder that
98                                              Osteogenesis imperfecta (OI) is a heritable bone disease
99                                              Osteogenesis imperfecta (OI) is a heritable connective t
100                                              Osteogenesis imperfecta (OI) is a heritable connective t
101                                              Osteogenesis imperfecta (OI) is a heritable disorder of
102                                              Osteogenesis imperfecta (OI) is a heritable disorder tha
103                                              Osteogenesis imperfecta (OI) is a heritable disorder, in
104                                              Osteogenesis imperfecta (OI) is a skeletal disorder char
105                                              Osteogenesis imperfecta (OI) is a skeletal disorder prim
106                                              Osteogenesis imperfecta (OI) is an inherited brittle bon
107                                              Osteogenesis imperfecta (OI) is characterized by bone fr
108                                              Osteogenesis imperfecta (OI) is characterized by short s
109                                              Osteogenesis imperfecta (OI) is characterized primarily
110 -Gly repeat with a bulky amino acid leads to osteogenesis imperfecta (OI) of varying severity.
111 tients with OI/EDS form a distinct subset of osteogenesis imperfecta (OI) patients.
112 e are correlations between the severities of osteogenesis imperfecta (OI) phenotypes and changes in t
113             The inherited skeletal dysplasia osteogenesis imperfecta (OI) results in multiple fractur
114 lly identified in 10 unrelated families with osteogenesis imperfecta (OI) type 1.
115 ates the intra-nuclear fate of COL1A1 RNA in osteogenesis imperfecta (OI) Type I.
116                                              Osteogenesis imperfecta (OI) type V is the second most c
117 oduct of the SERPINF1 gene, are the cause of osteogenesis imperfecta (OI) type VI.
118  or bone tissue, the metabolic syndrome, and osteogenesis imperfecta (OI) type VI.
119 , respectively, two novel recessive forms of osteogenesis imperfecta (OI) with severe to lethal bone
120            Type I collagen alterations cause osteogenesis imperfecta (OI), a connective tissue disord
121 gle amino acid change found in patients with osteogenesis imperfecta (OI), a disease characterized by
122 bone marrow transplantation (BMT) for severe osteogenesis imperfecta (OI), a genetic disorder charact
123                                              Osteogenesis imperfecta (OI), also known as brittle bone
124                     The clinical severity of Osteogenesis Imperfecta (OI), also known as the brittle
125                                              Osteogenesis imperfecta (OI), or brittle bone disease, i
126                                              Osteogenesis imperfecta (OI), or brittle bone disease, o
127 heir role in intermolecular interactions and osteogenesis imperfecta (OI).
128 n type I triple helix are the major cause of osteogenesis imperfecta (OI).
129 lls, we used fibroblasts from a patient with osteogenesis imperfecta (OI).
130  develop the first knock-in murine model for osteogenesis imperfecta (OI).
131 ozymes as an approach to the gene therapy of osteogenesis imperfecta (OI).
132 al and genetic abnormalities associated with osteogenesis imperfecta (OI).
133 sion of the mutant type I collagen allele in osteogenesis imperfecta (OI).
134 r father, both affected with severe type III osteogenesis imperfecta (OI).
135 ly, there is no disease-specific therapy for osteogenesis imperfecta (OI).
136 hich leads to a number of conditions such as osteogenesis imperfecta (OI).
137  helix, lead to the hereditary bone disorder osteogenesis imperfecta (OI).
138  in the perinatal period to severe deforming osteogenesis imperfecta (OI).
139  mechanism underlying pathophysiology of the osteogenesis imperfecta (OI).
140 otease tolloid like 1 (TLL1) in mice lead to osteogenesis imperfecta (OI).
141 stabilization result in a distinct alpha1(I)-osteogenesis imperfecta (OI)/EDS phenotype.
142  striking clinical benefits in children with osteogenesis imperfecta (OI); however, the underlying me
143                                              Osteogenesis imperfecta or 'brittle bone disease' has ma
144 genesis imperfecta genes in patients with an osteogenesis imperfecta phenotype but no COL1A1 and COL1
145 essive mutations in both genes cause similar osteogenesis imperfecta phenotypes.
146       A 42-year-old premenopausal woman with osteogenesis imperfecta presents to the metabolic bone c
147                             The treatment of osteogenesis imperfecta requires a multidisciplinary tea
148 ophilin-B, impair opsin biogenesis and cause osteogenesis imperfecta, respectively.
149                   A recessive form of severe osteogenesis imperfecta that is not caused by mutations
150             We used a knockin model of human osteogenesis imperfecta, the Brittle IV (Brtl) mouse, in
151 n genes account for <10% of individuals with osteogenesis imperfecta, the characterization of these g
152          Dysplasias such as otosclerosis and osteogenesis imperfecta, the most frequent diseases with
153 ionship seen for type I collagen defects and osteogenesis imperfecta, the null allele in this family
154 row stromal cells were infused into a female osteogenesis imperfecta-transgenic mouse, fluorescense i
155 ail) referred for diagnosis or ruling out of osteogenesis imperfecta type I, a rare variant (rs140121
156 e bone fragility and a clinical diagnosis of osteogenesis imperfecta type IV, we identified two homoz
157 urrent mutation in the 5'-UTR of BRIL causes osteogenesis imperfecta type V.
158 pecific membrane protein that is involved in osteogenesis imperfecta type V.
159 s and improves bone plasticity in a model of osteogenesis imperfecta type VI via Wnt3a blockade.
160 gous loss-of-function mutations in SP7 cause osteogenesis imperfecta type XII, but neomorphic (gain-o
161 d a recently proposed functional grouping of osteogenesis imperfecta types by shared mechanism to sim
162  in patients with recessive severe or lethal osteogenesis imperfecta types.
163 ein-65 (FKBP65) defects cause types X and XI osteogenesis imperfecta via aberrant collagen crosslinki
164 d factor (PEDF) defects cause types V and VI osteogenesis imperfecta via defective bone mineralizatio
165  and cyclophilin B (CYPB) cause types VII-IX osteogenesis imperfecta via defective collagen post-tran
166 family with 2 siblings affected by recessive osteogenesis imperfecta, we identified a homozygous nons
167 type I collagen result in autosomal dominant osteogenesis imperfecta, whereas mutations in either of
168                      She has a daughter with osteogenesis imperfecta who is seen regularly in a speci
169   Three of 10 children with lethal or severe osteogenesis imperfecta, who did not have a primary coll
170  caused severe polycystic kidney disease and osteogenesis imperfecta with approximately 80% perinatal
171 roxylase 1 [P3H1]) cause autosomal recessive osteogenesis imperfecta with rhizomelia (shortening of p
172 We identified two siblings who had recessive osteogenesis imperfecta without rhizomelia.

 
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