(Q37209107)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22426302%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

title

Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22426302%20AND%20SRC:MED&resulttype=core&format=json

blood coagulation disease

26 January 2020

main subject

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22426302%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Alessio Branchini

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22426302%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Iva Maestri

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22426302%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Franco Pagani

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22426302%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Mirko Pinotti

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22426302%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

author name string

Nicola Cavallari

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22426302%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Ampaiwan Chuamsunrit

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22426302%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Werasak Sasanakul

6

1 reference

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26 January 2020

Guglielmo Mariani

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22426302%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Francesco Bernardi

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22426302%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

language of work or name

English

0 references

publication date

9 March 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22426302%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

number of pages

5

1 reference

Biochimica et Biophysica Acta

inferred from page(s)

published in

1 reference

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26 January 2020

volume

1822

1 reference

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26 January 2020

issue

7

1 reference

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26 January 2020

page(s)

1109-1113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22426302%20AND%20SRC:MED&resulttype=core&format=json

RNA-based therapeutic approaches for coagulation factor deficiencies

26 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3787739

Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3787739

Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3787739

Alternative splicing and disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3787739

Evidence for an overlapping role of CLOCK and NPAS2 transcription factors in liver circadian oscillators

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3787739

Polypeptide chain termination and stop codon readthrough on eukaryotic ribosomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3787739

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3787739

Calibrated automated thrombin generation measurement in clotting plasma

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3787739

Residual factor VII activity and different hemorrhagic phenotypes in CRM(+) factor VII deficiencies (Gly331Ser and Gly283Ser).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3787739

Mice lacking factor VII develop normally but suffer fatal perinatal bleeding

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3787739

The tissue factor pathway: how it has become a "prima ballerina"

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3787739

Molecular and cellular biology of blood coagulation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3787739

U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3787739

Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3787739

Molecular mechanisms of FVII deficiency: expression of mutations clustered in the IVS7 donor splice site of factor VII gene.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3787739

Mechanisms for selecting 5' splice sites in mammalian pre-mRNA splicing

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3787739

Identification and functional characterization of KCNQ1 mutations around the exon 7-intron 7 junction affecting the splicing process

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3787739

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3787739

Factor VII gene intronic mutation in a lethal factor VII deficiency: effects on splice-site selection.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3787739

Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3787739

Comparative modeling methods: application to the family of the mammalian serine proteases

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3787739

5' cleavage site in eukaryotic pre-mRNA splicing is determined by the overall 5' splice region, not by the conserved 5' GU

3 September 2018

1 reference

12 December 2020

A model for the tissue factor pathway to thrombin. I. An empirical study

1 reference

12 December 2020

Clinical phenotypes and factor VII genotype in congenital factor VII deficiency

1 reference

12 December 2020

Vitamin K-induced modification of coagulation phenotype in VKORC1 homozygous deficiency

1 reference

12 December 2020

Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon

1 reference

12 December 2020

10.1016/J.BBADIS.2012.03.001

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22426302%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22426302%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

PubMed publication ID

22426302

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22426302%20AND%20SRC:MED&resulttype=core&format=json