(Q39028226)

8 September 2017

1 reference

title

Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia (English)

1 reference

8 September 2017

main subject

osteogenesis imperfecta

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author

Smriti Aryal A C

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27914223%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

author name string

Heeseog Kang

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27914223%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Joan C Marini

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27914223%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

publication date

19 November 2016

1 reference

8 September 2017

published in

Translational Research

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27914223%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

volume

181

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27914223%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

page(s)

27-48

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27914223%20AND%20SRC:MED&resulttype=core&format=json

New perspectives on osteogenesis imperfecta

6 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Analysis of cytoplasmic and nuclear messenger RNA in fibroblasts from patients with type I osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-a

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Heritable diseases of collagen

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Analysis of CpG suppression in methylated and nonmethylated species

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

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.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Immature osteoblast lineage cells increase osteoclastogenesis in osteogenesis imperfecta murine.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

The role of collagen crosslinking in differentiation of human mesenchymal stem cells and MC3T3-E1 cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Pyridinium cross-links in bone of patients with osteogenesis imperfecta: evidence of a normal intrafibrillar collagen packing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Altered cytoskeletal organization characterized lethal but not surviving Brtl+/- mice: insight on phenotypic variability in osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Mutations Near Amino End of α1(I) Collagen Cause Combined Osteogenesis Imperfecta/Ehlers-Danlos Syndrome by Interference with N-propeptide Processing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Biochemical characterization of the prolyl 3-hydroxylase 1.cartilage-associated protein.cyclophilin B complex.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Peptidyl 3-hydroxyproline binding properties of type I collagen suggest a function in fibril supramolecular assembly

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Generalized connective tissue disease in Crtap-/- mouse

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Molecular characterization of a novel basement membrane-associated proteoglycan, leprecan

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Prolyl 3-hydroxylase 1 null mice display abnormalities in fibrillar collagen-rich tissues such as tendons, skin, and bones

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Prolyl 3-hydroxylase-1 null mice exhibit hearing impairment and abnormal morphology of the middle ear bone joints.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Bone matrix hypermineralization in prolyl-3 hydroxylase 1 deficient mice.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

An interaction map of endoplasmic reticulum chaperones and foldases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

PPIB mutations cause severe osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Mutation in cyclophilin B that causes hyperelastosis cutis in American Quarter Horse does not affect peptidylprolyl cis-trans isomerase activity but shows altered cyclophilin B-protein interactions and affects collagen folding

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Peptidylprolyl cis/trans isomerases (immunophilins): biological diversity--targets--functions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Peptidyl-prolyl cis-trans isomerases, a superfamily of ubiquitous folding catalysts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

A subset of chaperones and folding enzymes form multiprotein complexes in endoplasmic reticulum to bind nascent proteins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Folding mechanism of the triple helix in type-III collagen and type-III pN-collagen. Role of disulfide bridges and peptide bond isomerization

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Cyclophilin-B Modulates Collagen Cross-linking by Differentially Affecting Lysine Hydroxylation in the Helical and Telopeptidyl Domains of Tendon Type I Collagen

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Inositol trisphosphate and calcium signalling mechanisms

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Trimeric intracellular cation channels and sarcoplasmic/endoplasmic reticulum calcium homeostasis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

TRIC channels supporting efficient Ca(2+) release from intracellular stores

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

TRIC channels are essential for Ca2+ handling in intracellular stores.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Essential role of the TRIC-B channel in Ca2+ handling of alveolar epithelial cells and in perinatal lung maturation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Mice lacking the intracellular cation channel TRIC-B have compromised collagen production and impaired bone mineralization

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

HSP47 binds cooperatively to triple helical type I collagen but has little effect on the thermal stability or rate of refolding

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

The retention of abnormal type I procollagen and correlated expression of HSP 47 in fibroblasts from a patient with lethal osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Embryonic lethality of molecular chaperone hsp47 knockout mice is associated with defects in collagen biosynthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Insufficient folding of type IV collagen and formation of abnormal basement membrane-like structure in embryoid bodies derived from Hsp47-null embryonic stem cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Coexpression of the collagen-binding stress protein HSP47 gene and the alpha 1(I) and alpha 1(III) collagen genes in carbon tetrachloride-induced rat liver fibrosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

The rough endoplasmic reticulum-resident FK506-binding protein FKBP65 is a molecular chaperone that interacts with collagens.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Identification of tropoelastin as a ligand for the 65-kD FK506-binding protein, FKBP65, in the secretory pathway

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Chicken FK506-binding protein, FKBP65, a member of the FKBP family of peptidylprolyl cis-trans isomerases, is only partially inhibited by FK506.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

A novel splicing mutation in FKBP10 causing osteogenesis imperfecta with a possible mineralization defect

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Connective tissue alterations in Fkbp10-/- mice.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Disentangling mechanisms involved in collagen pyridinoline cross-linking: The immunophilin FKBP65 is critical for dimerization of lysyl hydroxylase 2

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Cross-linking in collagen and elastin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Quantitation of hydroxypyridinium crosslinks in collagen by high-performance liquid chromatography

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Type V osteogenesis imperfecta: a new form of brittle bone disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Genotype-phenotype study in type V osteogenesis imperfecta.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Worsening of Callus Hyperplasia after Bisphosphonate Treatment in Type V Osteogenesis Imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Regulation of the bone-restricted IFITM-like (Bril) gene transcription by Sp and Gli family members and CpG methylation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Two mutations inIFITM5causing distinct forms of osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Bril: a novel bone-specific modulator of mineralization

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Molecular analysis of a human interferon-inducible gene family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Phenotype and gene expression pattern of osteoblast-like cells cultured on polystyrene and hydroxyapatite with pre-adsorbed type-I collagen

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Topological mapping of BRIL reveals a type II orientation and effects of osteogenesis imperfecta mutations on its cellular destination

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Role of S-palmitoylation on IFITM5 for the interaction with FKBP11 in osteoblast cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Osteoblast-enriched membrane protein IFITM5 regulates the association of CD9 with an FKBP11-CD81-FPRP complex and stimulates expression of interferon-induced genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Mutations in SERPINF1 cause osteogenesis imperfecta type VI

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

The many facets of PEDF in drug discovery and disease: a diamond in the rough or split personality disorder?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Normal bone density and fat mass in heterozygous SERPINF1 mutation carriers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

A mouse model for human osteogenesis imperfecta type VI.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Unique micro- and nano-scale mineralization pattern of human osteogenesis imperfecta type VI bone

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Pigment epithelium derived factor suppresses expression of Sost/Sclerostin by osteocytes: implication for its role in bone matrix mineralization.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

A co-occurrence of osteogenesis imperfecta type VI and cystinosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

The effect of SERPINF1 in-frame mutations in osteogenesis imperfecta type VI.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Pigment epithelium-derived factor (PEDF) shares binding sites in collagen with heparin/heparan sulfate proteoglycans

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Dual-site recognition of different extracellular matrix components by anti-angiogenic/neurotrophic serpin, PEDF.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Osteogenesis Imperfecta Type VI in Individuals from Northern Canada

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

PEDF regulates osteoclasts via osteoprotegerin and RANKL

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Restoration of the serum level of SERPINF1 does not correct the bone phenotype in Serpinf1 null mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Pigment epithelium-derived factor restoration increases bone mass and improves bone plasticity in a model of osteogenesis imperfecta type VI via Wnt3a blockade

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Involvement of the collagen I-binding motif in the anti-angiogenic activity of pigment epithelium-derived factor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Identification of a novel inhibitor of the canonical Wnt pathway

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Pigment Epithelium-Derived Factor (PEDF) Inhibits Wnt/β-catenin Signaling in the Liver

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Pigment epithelium-derived factor enhances differentiation and mineral deposition of human mesenchymal stem cells.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Determination of mesenchymal stem cell fate by pigment epithelium-derived factor (PEDF) results in increased adiposity and reduced bone mineral content

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Pigment Epithelium-Derived Factor (PEDF) Protects Osteoblastic Cell Line from Glucocorticoid-Induced Apoptosis via PEDF-R.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Identification of PLXDC1 and PLXDC2 as the transmembrane receptors for the multifunctional factor PEDF.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Molecular cloning, structure, expression, and chromosomal localization of the human Osterix (SP7) gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Osterix/Sp7 regulates mesenchymal stem cell mediated endochondral ossification

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

TIEG1 enhances Osterix expression and mediates its induction by TGFβ and BMP2 in osteoblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Osterix induces Col1a1 gene expression through binding to Sp1 sites in the bone enhancer and proximal promoter regions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Synergistic inhibition of Wnt pathway by HIF-1α and osteoblast-specific transcription factor osterix (Osx) in osteoblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Osterix controls cementoblast differentiation through downregulation of Wnt-signaling via enhancing DKK1 expression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Osterix and RUNX2 are Transcriptional Regulators of Sclerostin in Human Bone.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

The IRE1α-XBP1 pathway is essential for osteoblast differentiation through promoting transcription of Osterix

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Mutations in WNT1 are a cause of osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Mutations in WNT1 cause different forms of bone fragility

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Fatty acid modification of Wnt1 and Wnt3a at serine is prerequisite for lipidation at cysteine and is essential for Wnt signalling.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Identification of the WNT1 residues required for palmitoylation by Porcupine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

WNT signaling in bone homeostasis and disease: from human mutations to treatments

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

The Wnt-1 (int-1) proto-oncogene is required for development of a large region of the mouse brain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Swaying is a mutant allele of the proto-oncogene Wnt-1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Osteoclast TGF-β Receptor Signaling Induces Wnt1 Secretion and Couples Bone Resorption to Bone Formation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Recessive osteogenesis imperfecta caused by missense mutations in SPARC.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

SPARC/osteonectin in mineralized tissue

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Structural basis of sequence-specific collagen recognition by SPARC

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Crystal structure and mapping by site-directed mutagenesis of the collagen-binding epitope of an activated form of BM-40/SPARC/osteonectin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Is SPARC an evolutionarily conserved collagen chaperone?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Decreased Mechanical Strength and Collagen Content in SPARC-Null Periodontal Ligament Is Reversed by Inhibition of Transglutaminase Activity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Osteopenia and decreased bone formation in osteonectin-deficient mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

PLS3 mutations in X-linked osteoporosis with fractures

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Osteoporosis caused by mutations in PLS3: clinical and bone tissue characteristics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Membrane topology of S2P, a protein required for intramembranous cleavage of sterol regulatory element-binding proteins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Regulated intramembrane proteolysis: a control mechanism conserved from bacteria to humans

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Regulated intramembrane proteolysis: from the endoplasmic reticulum to the nucleus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

MBTPS2 mutation causes BRESEK/BRESHECK syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

A family of membrane-embedded metalloproteases involved in regulated proteolysis of membrane-associated transcription factors

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

SREBPs: transcriptional mediators of lipid homeostasis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Site-1 protease is required for cartilage development in zebrafish

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Site-1 protease is essential for endochondral bone formation in mice.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

OASIS is a transcriptional activator of CREB/ATF family with a transmembrane domain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

OASIS, a CREB/ATF-family member, modulates UPR signalling in astrocytes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Cleavage of the membrane-bound transcription factor OASIS in response to endoplasmic reticulum stress

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Activation of OASIS family, ER stress transducers, is dependent on its stabilization

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Distinct mechanisms are responsible for osteopenia and growth retardation in OASIS-deficient mice.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Signalling mediated by the endoplasmic reticulum stress transducer OASIS is involved in bone formation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

OASIS modulates hypoxia pathway activity to regulate bone angiogenesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

Mutations in Collagen Genes as a Cause of Rare and Perhaps Common Diseases of Connective Tissue

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2016.11.005

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.TRSL.2016.11.005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27914223%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

1 reference