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1 ular matrix stiffness (e.g., in osteogenesis imperfecta).
2 hologies including fibrosis and osteogenesis imperfecta.
3 dard of care' for children with osteogenesis imperfecta.
4 aches to care for children with osteogenesis imperfecta.
5 are common molecular causes of osteogenesis imperfecta.
6 ts in KLK4 cause hypomaturation amelogenesis imperfecta.
7 g its formation cause recessive osteogenesis imperfecta.
8 sis, diagnosis and treatment of osteogenesis imperfecta.
9 cal management of children with osteogenesis imperfecta.
10 mfort in treating children with osteogenesis imperfecta.
11 n gene cause autosomal dominant amelogenesis imperfecta.
12 s, which are hallmarks of human osteogenesis imperfecta.
13 sive hypoplastic-hypomaturation amelogenesis imperfecta.
14 2(oim) mutation (oim) express dentinogenesis imperfecta.
15 cy is associated with recessive osteogenesis imperfecta.
16 een identified in kindreds with amelogenesis imperfecta.
17 d autosomally dominant cases of amelogenesis imperfecta.
18 rouped under the classification amelogenesis imperfecta.
19 se occurring in mouse models of osteogenesis imperfecta.
20 rrow transplantation for severe osteogenesis imperfecta.
21 or family-specific diagnosis of amelogenesis imperfecta.
22 gene in kindreds suffering from amelogenesis imperfecta.
23 armamentarium of treatments for osteogenesis imperfecta.
24 in some cases of human X-linked amelogenesis imperfecta.
25 such as dentin dysplasia and dentinogenesis imperfecta.
26 ied in a case of human X-linked amelogenesis imperfecta.
27 re also characteristic of human osteogenesis imperfecta.
28 he enamel, a condition known as amelogenesis imperfecta.
29 in enamel anomalies, including amelogenesis imperfecta.
30 the bone developmental disorder osteogenesis imperfecta.
31 ditional knockout mice) exhibit amelogenesis imperfecta.
32 y-onset epileptic seizures, and amelogenesis imperfecta.
33 resulting in a condition called amelogenesis imperfecta.
34 based therapy for patients with Osteogenesis Imperfecta.
35 minant hereditary bone disorder osteogenesis imperfecta.
36 th the diagnosis of hypoplastic amelogenesis imperfecta.
37 been described in patients with osteogenesis imperfecta.
38 ow and an approach for treating osteogenesis imperfecta.
39 pected to have a severe type of osteogenesis imperfecta.
40 65 leads to a recessive form of osteogenesis imperfecta.
41 m shift in the understanding of osteogenesis imperfecta.
42 gations into common pathways in osteogenesis imperfecta.
43 Amelx and Mmp20 mutations cause amelogenesis imperfecta.
44 atment option for children with osteogenesis imperfecta.
45 y osteoporosis or children with osteogenesis imperfecta.
46 antation in three children with osteogenesis imperfecta, a genetic disorder in which osteoblasts prod
47 in GPR68 in three families with amelogenesis imperfecta, a genetically and phenotypically heterogeneo
48 henotypic similarities to human osteogenesis imperfecta, a skeletal dysplasia caused by mutations in
49 utosomal-dominant hypocalcified amelogenesis imperfecta (ADHCAI), which is typically characterized by
51 utosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI; OMIM #130900) is a genetic disorder
52 4) and SLC24A5 (NCKX5) genes to amylogenesis imperfecta (AI) and non-syndromic oculocutaneous albinis
53 nt because RELT mutations cause amelogenesis imperfecta (AI) and this directly links ADAM10 to an imp
56 enamel disorders referred to as amelogenesis imperfecta (AI) can severely affect the development and
62 to an enamel defect similar to amelogenesis imperfecta (AI) in humans, we generated transgenic mice
63 hypoplastic autosomal-recessive amelogenesis imperfecta (AI) in individuals from six apparently unrel
79 ene involved in the etiology of amelogenesis imperfecta (AI) that does not encode a secreted protein.
80 ed cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI) was first reported by Jalili and Smith i
82 A mutations are associated with Amelogenesis Imperfecta (AI) with gingival hyperplasia and nephrocalc
83 in which pitted hypomineralized amelogenesis imperfecta (AI) with premature enamel failure segregated
84 se of recessive hypomineralized amelogenesis imperfecta (AI), a disease in which the formation of too
85 me candidate in the etiology of amelogenesis imperfecta (AI), a genetic disease in which defects of e
87 evere enamel defects that mimic amelogenesis imperfecta (AI), with a rough, irregular enamel surface.
88 been found to cause hypoplastic amelogenesis imperfecta (AI), with phenotypes ranging from localized
101 the connective tissue disorders osteogenesis imperfecta and Ehlers-Danlos syndrome types VIIA and VII
102 , children aged 4-15 years with osteogenesis imperfecta and increased fracture risk were randomly ass
104 posttransplantation therapy for osteogenesis imperfecta and likely other disorders originating in mes
106 ; and mutations associated with osteogenesis imperfecta and other disorders show apparently nonrandom
107 is strategy in the treatment of osteogenesis imperfecta and perhaps other mesenchymal stem cell disor
108 some osteopenic states, such as osteogenesis imperfecta and selected animal models for bone fragility
110 we describe the defects causing osteogenesis imperfecta and their mechanism and interrelations, and c
111 ic enamel malformations, termed amelogenesis imperfecta, and ablation of Mmp20 in mice results in thi
112 rowth velocity in children with osteogenesis imperfecta, and ameliorate severe graft-versus-host dise
113 ed in severe recessive forms of osteogenesis imperfecta, and homozygous knockout is lethal in mice.
114 mice represent a model of human osteogenesis imperfecta, and reveal a previously unknown mechanism fo
115 ical fractures in children with osteogenesis imperfecta, and the drug was generally well tolerated.
118 has created a new paradigm for osteogenesis imperfecta as a collagen-related disorder, where most ca
119 d, moderate, or lethal forms of osteogenesis imperfecta as a consequence of skipping of other exons.
120 us, chihuahua accurately models osteogenesis imperfecta at the biologic and molecular levels, and wil
121 ype of fragile bones resembling osteogenesis imperfecta because they expressed a human minigene for t
122 ns, analogous to those found in Osteogenesis Imperfecta (brittle bone disease), result in a significa
124 d3 as a candidate gene of human osteogenesis imperfecta, but suggests SMPD3 deficiency as the pathoge
125 play a role in the etiology of osteogenesis imperfecta by affecting collagen secretion or interactio
126 Our findings may explain why osteogenesis imperfecta-causing mutations in both genes result in sim
127 ostasis defects associated with osteogenesis imperfecta-causing mutations within the collagen-alpha2(
128 the connective tissue disorder Osteogenesis Imperfecta (characterized by abnormal assembly of type I
129 ibrillar collagen genes lead to osteogenesis imperfecta (COL1A1 and COL1A2 encoding the chains of Typ
130 eficiency to a mouse model with osteogenesis imperfecta (Col1a2(oim)), a heritable connective tissue
131 with the brittle bone disorder osteogenesis imperfecta, demonstrating successful gene targeting in a
135 mutations in humans may cause dentinogenesis imperfecta (DGI), an autosomal dominant dentin disorder.
136 asts derived from patients with osteogenesis imperfecta did not exhibit facets of a pre-mature aging,
137 rotein 1 (BMP1) causes type XII osteogenesis imperfecta due to altered collagen maturation/processing
138 enamel phenotype, resulting in amelogenesis imperfecta, enamel that is defective and easily damaged.
140 wers to questions about 'other' osteogenesis imperfecta genes in patients with an osteogenesis imperf
141 ethal and recessively inherited osteogenesis imperfecta has provided partial answers to questions abo
142 4829) cause autosomal recessive amelogenesis imperfecta, however, the function of ODAPH during amelog
143 editary dental disorders like dentinogenesis imperfecta II (MIM 125420) and dentin dysplasia (MIM 125
144 candidate gene implicated in dentinogenesis imperfecta II (MIM 125420), is significantly down-regula
145 gene were identified in human dentinogenesis imperfecta II (Online Mendelian Inheritance in Man (OMIM
146 ooth defects similar to human dentinogenesis imperfecta III with enlarged pulp chambers, increased wi
148 more develop a disease model of amelogenesis imperfecta in a three-dimensional (3D) organoid system a
149 ogenin (TgP70T), which leads to amelogenesis imperfecta in humans, have heterogeneous enamel structur
150 ed in collagen diseases such as osteogenesis imperfecta in which the mutation leads to the substituti
152 played a phenotype similar to dentinogenesis imperfecta, including decreased dentin mineral density,
154 presence of hypoplastic pitted amelogenesis imperfecta, intraoral wounds, gingivitis and periodontal
155 teoporosis in one leg, nine had osteogenesis imperfecta (IO), and eight had vitamin D-resistant ricke
156 suggest that hypoplastic pitted amelogenesis imperfecta is a feature of Kindler epidermolysis bullosa
159 The hereditary bone disorder osteogenesis imperfecta is often caused by missense mutations in type
160 ion in Fsp1(+) cells results in Osteogenesis Imperfecta-like phenotypes in adult mice, with spontaneo
161 ng them Ehlers-Danlos syndrome, osteogenesis imperfecta, Marfan syndrome, and Larsen syndrome, are ch
163 xtracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis
165 ral dissimilarities between the osteogenesis imperfecta mouse and wild-type tissues lead to significa
166 sive mechanical function in the osteogenesis imperfecta murine (oim) model of pro-alpha2(I) collagen
167 is replaced by Ser to model an osteogenesis imperfecta mutation, the peptide with the N-terminal (GP
169 late to the observed pattern of osteogenesis imperfecta mutations near the integrin binding site.
170 hanatophoric dysplasia (n = 1), osteogenesis imperfecta (n = 1), arthrogryposis (n = 2), and short-li
171 sorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-o
172 lead to human diseases such as amelogenesis imperfecta, nephrocalcinosis, lethal and nonlethal forms
175 enes linked to severe recessive osteogenesis imperfecta (OI) and four associated with bone mineral de
177 tosomal dominant bone dysplasia osteogenesis imperfecta (OI) are generally identified by having more
178 y of collagen mutations causing osteogenesis imperfecta (OI) are glycine substitutions that disrupt f
179 o dominantly inherited forms of osteogenesis imperfecta (OI) by altering the triple helical domains,
180 alterations in mouse models of osteogenesis imperfecta (OI) cause similar abnormal lung histology, w
184 Although >90% of patients with osteogenesis imperfecta (OI) have been estimated to have mutations in
185 ore than 90% of people who have osteogenesis imperfecta (OI) have heterozygous mutations in one of th
207 tions between the severities of osteogenesis imperfecta (OI) phenotypes and changes in the residues n
208 he inherited skeletal dysplasia osteogenesis imperfecta (OI) results in multiple fractures and is cur
214 y, two novel recessive forms of osteogenesis imperfecta (OI) with severe to lethal bone dysplasia and
215 pe I collagen alterations cause osteogenesis imperfecta (OI), a connective tissue disorder characteri
216 d change found in patients with osteogenesis imperfecta (OI), a disease characterized by fragile bone
217 ransplantation (BMT) for severe osteogenesis imperfecta (OI), a genetic disorder characterized by def
237 nical benefits in children with osteogenesis imperfecta (OI); however, the underlying mechanism of th
239 d associated pathologies (e.g., amelogenesis imperfecta or molar hypomineralization), and minimally i
240 in some cases of human X-linked amelogenesis imperfecta or when tyrosyl residues were substituted wit
241 in some cases of human X-linked amelogenesis imperfecta or when tyrosyl residues were substituted wit
243 fecta genes in patients with an osteogenesis imperfecta phenotype but no COL1A1 and COL1A2 mutations.
248 orms of the human enamel defect amelogenesis imperfecta resulting from amelogenin gene mutations.
249 ccompanied by bone deformity, dentinogenesis imperfecta, short stature, and shortened life span.
250 uineous family display severe dentinogenesis imperfecta, short stature, various skeletal abnormalitie
251 n epileptic encephalopathy with amelogenesis imperfecta that has parallels to V-ATPase-related diseas
252 A recessive form of severe osteogenesis imperfecta that is not caused by mutations in type I col
253 e used a knockin model of human osteogenesis imperfecta, the Brittle IV (Brtl) mouse, in which defect
254 nt for <10% of individuals with osteogenesis imperfecta, the characterization of these genes has iden
255 lasias such as otosclerosis and osteogenesis imperfecta, the most frequent diseases with radiologic f
256 for type I collagen defects and osteogenesis imperfecta, the null allele in this family appears to ca
258 ells were infused into a female osteogenesis imperfecta-transgenic mouse, fluorescense in situ hybrid
259 for diagnosis or ruling out of osteogenesis imperfecta type I, a rare variant (rs140121121) in PLS3
261 if DGI-III co-localized with dentinogenesis imperfecta type II (DGI-II), which has been localized to
263 a position equivalent to the dentinogenesis imperfecta type II location on human 4q21 all suggest th
264 ecent studies have shown that dentinogenesis imperfecta type II results from mutation of the bicistro
265 ed chromosomal location with, dentinogenesis imperfecta type II, a second disorder of dentine mineral
268 ity and a clinical diagnosis of osteogenesis imperfecta type IV, we identified two homozygous variant
272 function mutations in SP7 cause osteogenesis imperfecta type XII, but neomorphic (gain-of-new-functio
273 proposed functional grouping of osteogenesis imperfecta types by shared mechanism to simplify current
276 severity of hypoplastic pitted amelogenesis imperfecta varied from generalized to localized pitting.
277 5) defects cause types X and XI osteogenesis imperfecta via aberrant collagen crosslinking, folding,
278 F) defects cause types V and VI osteogenesis imperfecta via defective bone mineralization, while defe
279 lin B (CYPB) cause types VII-IX osteogenesis imperfecta via defective collagen post-translational mod
280 siblings affected by recessive osteogenesis imperfecta, we identified a homozygous nonsense mutation
281 en result in autosomal dominant osteogenesis imperfecta, whereas mutations in either of two component
282 genin observed in patients with amelogenesis imperfecta who demonstrate defects in enamel formation.
284 children with lethal or severe osteogenesis imperfecta, who did not have a primary collagen defect y
285 e polycystic kidney disease and osteogenesis imperfecta with approximately 80% perinatal lethality, w
286 3H1]) cause autosomal recessive osteogenesis imperfecta with rhizomelia (shortening of proximal segme