(Q36969590)

17 August 2017

A targeted deleterious allele of the splicing factor SCNM1 in the mouse (English)

1 reference

17 August 2017

Viive M Howell

1

1 reference

17 August 2017

Georgius de Haan

2

1 reference

17 August 2017

Sarah Bergren

3

1 reference

17 August 2017

Julie M Jones

4

1 reference

17 August 2017

Cymbeline T Culiat

5

1 reference

17 August 2017

Edward J Michaud

6

1 reference

17 August 2017

Wayne N Frankel

7

1 reference

17 August 2017

Miriam H Meisler

8

1 reference

17 August 2017

language of work or name

English

0 references

publication date

14 September 2008

1 reference

17 August 2017

9

1 reference

inferred from page(s)

published in

Genetics

1 reference

17 August 2017

180

1 reference

17 August 2017

3

1 reference

17 August 2017

1419-1427

1 reference

describes a project that uses

17 August 2017

limma

1 reference

22 June 2022

https://europepmc.org/article/PMC/2581945

inferred from PubMed Central ID database lookup

cites work

Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Cre activity causes widespread apoptosis and lethal anemia during embryonic development.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Complex seizure disorder caused by Brunol4 deficiency in mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Efficient gene-driven germ-line point mutagenesis of C57BL/6J mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Nova regulates brain-specific splicing to shape the synapse

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

The splicing machinery is a genetic modifier of disease severity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

ASF/SF2-regulated CaMKIIdelta alternative splicing temporally reprograms excitation-contraction coupling in cardiac muscle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Myogenic repressor I-mfa interferes with the function of Zic family proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

SCNM1, a putative RNA splicing factor that modifies disease severity in mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Unexpected and variable phenotypes in a family with JAK3 deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Use of coisogenic host blastocysts for efficient establishment of germline chimeras with C57BL/6J ES cell lines

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Luc7p, a novel yeast U1 snRNP protein with a role in 5' splice site recognition

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Requirement of the mouse I-mfa gene for placental development and skeletal patterning

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

I-mf, a novel myogenic repressor, interacts with members of the MyoD family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Efficient in vivo manipulation of mouse genomic sequences at the zygote stage

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Determinants of the inherent strength of human 5' splice sites

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6).

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

An RNA map predicting Nova-dependent splicing regulation

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Detection and measurement of alternative splicing using splicing-sensitive microarrays.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Common molecular pathways mediate long-term potentiation of synaptic excitation and slow synaptic inhibition.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

A nonsense mutation in exon 8 of the APC gene (Arg283Ter) causes clinically variable FAP in a Malaysian Chinese family

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Mutation detection in the med and medJ alleles of the sodium channel Scn8a. Unusual splicing due to a minor class AT-AC intron

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581945

Evidence for a direct role of the disease modifier SCNM1 in splicing

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18791226

12 December 2020

inferred from PubMed ID database lookup

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18791226

12 December 2020

inferred from PubMed ID database lookup

Phenotypic variability associated with 14 splice-site mutations in the NF2 gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18791226

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1534/GENETICS.108.094227

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

18791226

1 reference