(Q34398977)

1 August 2017

title

First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome (English)

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1 August 2017

main subject

Ehlers-Danlos syndrome

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osteogenesis imperfecta

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author

Janet Rossant

14

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1 August 2017

Jane E Aubin

15

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Marc Grynpas

10

object named as

Marc Grynpas

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1 August 2017

Frieda Chen

1

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1 August 2017

Ruolin Guo

2

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1 August 2017

Shousaku Itoh

3

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1 August 2017

Luisa Moreno

4

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1 August 2017

Esther Rosenthal

5

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1 August 2017

Tanya Zappitelli

6

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1 August 2017

Ralph A Zirngibl

7

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1 August 2017

Ann Flenniken

8

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1 August 2017

William Cole

9

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1 August 2017

Lucy R Osborne

11

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1 August 2017

Wolfgang Vogel

12

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1 August 2017

Lee Adamson

13

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1 August 2017

publication date

1 June 2014

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Journal of Bone and Mineral Research

1 August 2017

published in

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1 August 2017

volume

29

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1 August 2017

issue

6

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1 August 2017

page(s)

1412-1423

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Genetic heterogeneity in osteogenesis imperfecta

1 August 2017

cites work

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CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta

21 January 2018

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Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

21 January 2018

1 reference

PPIB mutations cause severe osteogenesis imperfecta

21 January 2018

1 reference

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta

21 January 2018

1 reference

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

21 January 2018

1 reference

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta

21 January 2018

1 reference

Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome

21 January 2018

1 reference

The Human Collagen Mutation Database 1998.

21 January 2018

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Abnormal differentiation in MC3T3-E1 preosteoblasts expressing a dominant-negative type I collagen mutation

21 January 2018

1 reference

A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.

21 January 2018

1 reference

An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome

21 January 2018

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COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II

21 January 2018

1 reference

Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).

21 January 2018

1 reference

The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.

21 January 2018

1 reference

A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II

21 January 2018

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Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I

21 January 2018

1 reference

Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.

21 January 2018

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Structure and expression of the human lysyl hydroxylase gene (PLOD): introns 9 and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos syndrome type VI patients

21 January 2018

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A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency

21 January 2018

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Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition

21 January 2018

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Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene

21 January 2018

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The human type I collagen mutation database

21 January 2018

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Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

21 January 2018

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New perspectives on osteogenesis imperfecta

21 January 2018

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Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly

21 January 2018

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Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development

21 January 2018

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Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages

21 January 2018

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Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome

21 January 2018

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The Ehlers-Danlos syndrome: on beyond collagens

21 January 2018

1 reference

A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia

21 January 2018

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Defective bone mineralization and osteopenia in young adult FGFR3-/- mice

21 January 2018

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Centrifugal isolation of bone marrow from bone: an improved method for the recovery and quantitation of bone marrow osteoprogenitor cells from rat tibiae and femurae

21 January 2018

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Comprehensive algorithm for quantitative real-time polymerase chain reaction

21 January 2018

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Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta

21 January 2018

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Collagen defects in lethal perinatal osteogenesis imperfecta

21 January 2018

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Relationship between collagen synthesis and expression of the osteoblast phenotype in MC3T3-E1 cells

21 January 2018

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Role of the alpha2-integrin in osteoblast-specific gene expression and activation of the Osf2 transcription factor

21 January 2018

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Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice

21 January 2018

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Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model

21 January 2018

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Cellular mechanism of decreased bone in Brtl mouse model of OI: imbalance of decreased osteoblast function and increased osteoclasts and their precursors

21 January 2018

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Increased resorptive activity and accompanying morphological alterations in osteoclasts derived from the oim/oim mouse model of osteogenesis imperfecta

21 January 2018

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Brittle IV mouse model for osteogenesis imperfecta IV demonstrates postpubertal adaptations to improve whole bone strength

21 January 2018

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A murine skeletal adaptation that significantly increases cortical bone mechanical properties. Implications for human skeletal fragility

21 January 2018

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Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia

21 January 2018

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21 January 2018

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Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix

21 January 2018

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Endoplasmic reticulum stress in disease pathogenesis

21 January 2018

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ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta

21 January 2018

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A PCR primer bank for quantitative gene expression analysis

21 January 2018

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Effects of ENU dosage on mouse strains

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/JBMR.2177

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1 August 2017

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