(Q39586081)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10684924%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10684924%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10684924%20AND%20SRC:MED&resulttype=core&format=json

Xavier Estivill i Pallejà

4 November 2019

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10684924%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Elisabet Ars

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10684924%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Eduard Serra

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10684924%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

author name string

C Lázaro

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10684924%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

language of work or name

English

0 references

publication date

1 March 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10684924%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

published in

Nucleic Acids Research

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10684924%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

volume

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10684924%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10684924%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

page(s)

1307-1312

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10684924%20AND%20SRC:MED&resulttype=core&format=json

hnRNP complexes: composition, structure, and function

4 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

The regulation of splice-site selection, and its role in human disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

RNA processing and clinical variability in neurofibromatosis type I (NF1)

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Mitogen-activated protein kinase pathways

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Quantitative detection of immune activation transcripts as a diagnostic tool in kidney transplantation

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Exon skipping induced by cold stress in a potato invertase gene transcript.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Exon and intron sequences, respectively, repress and activate splicing of a fibroblast growth factor receptor 2 alternative exon

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

A simple salting out procedure for extracting DNA from human nucleated cells

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

A survey on intron and exon lengths

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Alternative splicing in the control of gene expression

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

The neurofibromatosis type 1 gene encodes a protein related to GAP

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Selection of splice sites in pre-mRNAs with short internal exons

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

A comparison of optimal and suboptimal RNA secondary structures predicted by free energy minimization with structures determined by phylogenetic comparison

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Molecular cloning of a cDNA coding for neurofibromatosis type 1 protein isoform lacking the domain related to ras GTPase-activating protein

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Biochemistry and regulation of pre-mRNA splicing

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Initial splice-site recognition and pairing during pre-mRNA splicing

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

An intron splicing enhancer containing a G-rich repeat facilitates inclusion of a vertebrate micro-exon.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

In vivo recognition of a vertebrate mini-exon as an exon-intron-exon unit

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5' part of the gene

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Differential expression of two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Transcript accumulation and utilization of alternate and non-consensus splice sites in rice granule-bound starch synthase are temperature-sensitive and controlled by a single-nucleotide polymorphism

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Alternative splicing of pre-mRNA: developmental consequences and mechanisms of regulation.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Alternative splicing of exons 29 and 30 in the neurofibromatosis type 1 gene.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

RNA secondary structure: an important cis-element in rat calcitonin/CGRP pre-messenger RNA splicing

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Alternative 5' splice site selection induced by heat shock

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Genomic organization of the neurofibromatosis 1 gene (NF1).

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=111054

Alternative splicing of E1A transcripts of adenovirus requires appropriate ionic conditions in vitro

21 August 2018

1 reference

12 December 2020

A role for exon sequences and splice-site proximity in splice-site selection

1 reference

12 December 2020

Alternative splicing of tropomyosin pre-mRNAs in vitro and in vivo

1 reference

12 December 2020

A deletion in the 5'-region of the neurofibromatosis type 1 (NF1) gene

1 reference

12 December 2020

Identifiers

DOI

10.1093/NAR/28.6.1307

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10684924%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10684924%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

PubMed publication ID

10684924

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10684924%20AND%20SRC:MED&resulttype=core&format=json