scholarly journals Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta

2015 ◽  
Vol 14 (4) ◽  
pp. 15848-15858 ◽  
Author(s):  
C. Barbirato ◽  
M. Trancozo ◽  
M.G. Almeida ◽  
L.S. Almeida ◽  
T.O. Santos ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta

Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants

2021 ◽  
Author(s):  
Francisco Javier Cotrina-Vinagre ◽  
María Elena Rodríguez-García ◽  
Elena Martín-Hernández ◽  
Cristina Durán-Aparicio ◽  
Abraham Merino-López ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Liver Failure ◽  
Acute Liver Failure ◽  
Complex Phenotype

Identification andIn VivoFunctional Characterization of Novel Compound HeterozygousBMP1Variants in Osteogenesis Imperfecta

2015 ◽  
Vol 36 (2) ◽  
pp. 191-195 ◽  
Author(s):  
Sung Yoon Cho ◽  
P.V. Asharani ◽  
Ok-Hwa Kim ◽  
Aritoshi Iida ◽  
Noriko Miyake ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta

Deep characterization of a zebrafish model for dominant osteogenesis imperfecta

2016 ◽  
Author(s):  
Francesca Tonelli ◽  
Roberta Gioia ◽  
Marco Biggiogera ◽  
Shannon Fisher ◽  
Sergey Leikin ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Zebrafish Model

scholarly journals Characterization of three osteogenesis imperfecta collagen α 1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity

1992 ◽  
Vol 288 (1) ◽  
pp. 131-135 ◽  
Author(s):  
J F Bateman ◽  
I Moeller ◽  
M Hannagan ◽  
D Chan ◽  
W G Cole
Keyword(s):  
Osteogenesis Imperfecta ◽  
Triple Helix ◽  
Type I Collagen ◽  
Type I ◽  
Disruptive Effect ◽  
Collagen Triple Helix ◽  
C Terminus ◽  
Glycine Substitution ◽  
C And N

Type I collagen alpha 1(I) glycine to serine substitutions, resulting from G-to-A mutations, were defined in three cases of osteogenesis imperfecta (OI). The Gly substitutions displayed a gradient of phenotypic severity according to the location of the mutation in the collagen triple helix. The most C-terminal of these, Gly565 to Ser, led to the lethal perinatal (type II) form of OI, whereas the more N-terminal mutations, Gly415 and Gly352 to Ser, led to severe OI (type III/IV) and moderate OI (type IVB) respectively. These data support the notion that glycine substitutions towards the C-terminus of the alpha 1(I) or alpha 2(I) chains will be more clinically severe than those towards the N-terminus. This results from the more disruptive effect of the mutations at the C-terminus on helix initiation and C- and N-terminal helix directional propagation. This generalization must be modified by considering the nature of the glycine substitution and the surrounding amino acid sequence, since the helix is composed of subdomains of differing stability which will affect the ability of helix re-nucleation and propagation.

scholarly journals Micro-CT characterization of human trabecular bone in osteogenesis imperfecta

2011 ◽  
Author(s):  
John Jameson ◽  
Carolyne Albert ◽  
Peter Smith ◽  
Robert Molthen ◽  
Gerald Harris
Keyword(s):  
Osteogenesis Imperfecta ◽  
Trabecular Bone ◽  
Micro Ct ◽  
Human Trabecular Bone

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation inPLOD2

2004 ◽  
Vol 131A (2) ◽  
pp. 115-120 ◽  
Author(s):  
Russia Ha-Vinh ◽  
Yasemin Alanay ◽  
Ruud A. Bank ◽  
Ana Belinda Campos-Xavier ◽  
Andreas Zankl ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Molecular Characterization ◽  
Recessive Mutation ◽  
Bruck Syndrome
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