Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation (Q34389924)

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English	Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation	scientific article

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417276%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417276%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

osteogenesis imperfecta

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3

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10 December 2019

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U Schwarze

1

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10 December 2019

B J Starman

2

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10 December 2019

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1 August 1999

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10 December 2019

American Journal of Human Genetics

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10 December 2019

65

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10 December 2019

2

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10 December 2019

336-344

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Europe PubMed Central

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10 December 2019

Flipping the switch to an active spliceosome

1 reference

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6 July 2018

Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA.

1 reference

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6 July 2018

Mechanical devices of the spliceosome: motors, clocks, springs, and things

1 reference

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6 July 2018

Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377932

6 July 2018

G triplets located throughout a class of small vertebrate introns enforce intron borders and regulate splice site selection

1 reference

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6 July 2018

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

1 reference

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6 July 2018

A splicing-dependent regulatory mechanism that detects translation signals

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6 July 2018

Defects in RNA splicing and the consequence of shortened translational reading frames

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377932

6 July 2018

Order of intron removal during splicing of endogenous adenine phosphoribosyltransferase and dihydrofolate reductase pre-mRNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377932

6 July 2018

A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing th

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377932

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377932

6 July 2018

Exon recognition in vertebrate splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377932

6 July 2018

Nuclear export of different classes of RNA is mediated by specific factors

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6 July 2018

The two intervening sequences of human beta- and gamma-globin pre-mRNAs are excised in a preferred temporal order in vitro

1 reference

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6 July 2018

A survey on intron and exon lengths

1 reference

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6 July 2018

Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human pro alpha 1(I) collagen gene (COL1A1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377932

6 July 2018

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377932

6 July 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377932

6 July 2018

Ordered splicing of thymidine kinase pre-mRNA during the S phase of the cell cycle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377932

6 July 2018

Effect of 5' splice site mutations on splicing of the preceding intron

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377932

6 July 2018

G to A polymorphism in exon 31 of the COL3A1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377932

6 July 2018

Exon definition may facilitate splice site selection in RNAs with multiple exons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377932

6 July 2018

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

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27 October 2018

RNA Splice Site Selection: Evidence for a 5′ → 3′ Scanning Model

1 reference

https://pubmed.ncbi.nlm.nih.gov/10417276

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A functional association between the 5' and 3' splice site is established in the earliest prespliceosome complex (E) in mammals

1 reference

https://pubmed.ncbi.nlm.nih.gov/10417276

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mechanism of aberrant pre-mRNA splicing in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/10417276

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10417276

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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30 July 2022

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30 July 2022

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