A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta. (Q50772150)

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scientific article published in June 1994

Language	Label	Description	Also known as
English	A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta.	scientific article published in June 1994

Statements

scholarly article

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/8005592

A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta. (English)

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/8005592

osteogenesis imperfecta

0 references

author name string

M Mottes

1

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Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/8005592

A Sangalli

2

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Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/8005592

M Valli

3

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/8005592

A Forlino

4

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/8005592

M Gomez-Lira

5

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/8005592

F Antoniazzi

6

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/8005592

C D Constantinou-Deltas

7

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/8005592

G Cetta

8

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/8005592

P F Pignatti

9

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/8005592

publication date

1 June 1994

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Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/8005592

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/8005592

93

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19 March 2018

http://europepmc.org/abstract/MED/8005592

6

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http://europepmc.org/abstract/MED/8005592

681-687

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Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/8005592

https://scigraph.springernature.com/pub.10.1007/bf00201570

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Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine ?1(I) 901 substitution in a type-I collagen gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

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Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

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Structure of a full-length cDNA clone for the prepro alpha 2(I) chain of human type I procollagen. Comparison with the chicken gene confirms unusual patterns of gene conservation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

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A heterozygous defect for structurally altered pro-alpha 2 chain of type I procollagen in a mild variant of osteogenesis imperfecta. The altered structure decreases the thermal stability of procollagen and makes it resistant to procollagen N-protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

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Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

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Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anomalous cysteine in type I collagen. Localisation by chemical cleavage of the protein using 2-nitro-5-thiocyanobenzoic acid and by mismatch analysis of cDNA heteroduplexes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assessment of procollagen processing defects by fibroblasts cultured in the presence of dextran sulphate

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not othe

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Extracellular matrix deposition in cultured dermal fibroblasts from four probands affected by osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteogenesis imperfecta: translation of mutation to phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A de novo G+1-->A mutation at the alpha 2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI type IV proband

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in collagen genes: causes of rare and some common diseases in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A 19-base pair deletion in the pro-alpha 2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and in his asymptomatic mother.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Temperature sensitivity of aberrant RNA splicing with a mutation in theG+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An intron mutation in the human alpha 1(I) collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005592

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00201570

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/8005592

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/8005592

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