Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships (Q24655456)

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26 December 2019

title

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

1 reference

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26 December 2019

main subject

osteogenesis imperfecta

0 references

author

Tingfung Chan

2

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26 December 2019

Peter H. Byers

6

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26 December 2019

Pui-Yan Kwok

7

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26 December 2019

author name string

Dale L Bodian

1

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26 December 2019

Annie Poon

3

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26 December 2019

Ulrike Schwarze

4

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26 December 2019

Kathleen Yang

5

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26 December 2019

Teri E Klein

8

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26 December 2019

language of work or name

English

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publication date

7 November 2008

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26 December 2019

published in

Human Molecular Genetics

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26 December 2019

volume

18

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26 December 2019

issue

3

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26 December 2019

page(s)

463-471

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CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

26 December 2019

cites work

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

7 April 2017

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Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

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

7 April 2017

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7 April 2017

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

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Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

28 September 2017

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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.

28 September 2017

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Mapping the ligand-binding sites and disease-associated mutations on the most abundant protein in the human, type I collagen

28 September 2017

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Destabilization of osteogenesis imperfecta collagen-like model peptides correlates with the identity of the residue replacing glycine

28 September 2017

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Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta

28 September 2017

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The Human Collagen Mutation Database 1998.

28 September 2017

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Targeted disruption of decorin leads to abnormal collagen fibril morphology and skin fragility

28 September 2017

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Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains

28 September 2017

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Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen

28 September 2017

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Brittle bones--fragile molecules: disorders of collagen gene structure and expression

28 September 2017

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Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta

28 September 2017

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An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the α1 chain of type I collagen: application to four patients with osteogenesis imperfecta

30 May 2018

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Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta

30 May 2018

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

30 May 2018

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Predicting the clinical lethality of osteogenesis imperfecta from collagen glycine mutations

21 January 2018

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Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.

21 January 2018

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Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta

21 January 2018

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A Gly859Ser substitution in the triple helical domain of the α2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals

21 January 2018

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Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain

21 January 2018

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Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone

28 November 2018

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Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II

28 November 2018

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Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta

21 January 2018

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12 December 2020

Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA

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12 December 2020

Mutations that substitute serine for glycine alpha 1-598 and glycine alpha 1-631 in type I procollagen. The effects on thermal unfolding of the triple helix are position-specific and demonstrate that the protein unfolds through a series of cooperati

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12 December 2020

BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta

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12 December 2020

Two new recurrent nucleotide mutations in theCOL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent

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12 December 2020

Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online

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12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1093/HMG/DDN374

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18996919%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

1 reference

2 references

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26 December 2019

PubMed publication ID

18996919

2 references