(Q35103428)

6 August 2017

Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload (English)

1 reference

6 August 2017

11

Judith Melki

1 reference

6 August 2017

Jérémie M Vitte

1

1 reference

6 August 2017

Bénédicte Davoult

2

1 reference

6 August 2017

Natacha Roblot

3

1 reference

6 August 2017

Michèle Mayer

4

1 reference

6 August 2017

Vandana Joshi

5

1 reference

6 August 2017

Sabrina Courageot

6

1 reference

6 August 2017

François Tronche

7

1 reference

6 August 2017

Jacqueline Vadrot

8

1 reference

6 August 2017

Marie Helene Moreau

9

1 reference

6 August 2017

François Kemeny

10

1 reference

6 August 2017

language of work or name

English

0 references

publication date

1 November 2004

1 reference

The American Journal of Pathology

6 August 2017

1 reference

6 August 2017

165

1 reference

6 August 2017

5

1 reference

6 August 2017

1731-1741

1 reference

Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

The molecular bases of spinal muscular atrophy

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

The SMN complex, an assemblyosome of ribonucleoproteins

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

Regulation of expression of murine transferrin receptor 2.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

Gene targeting restricted to mouse striated muscle lineage

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

Generalized lacZ expression with the ROSA26 Cre reporter strain

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

HFE gene knockout produces mouse model of hereditary hemochromatosis

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

beta2 knockout mice develop parenchymal iron overload: A putative role for class I genes of the major histocompatibility complex in iron metabolism

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

Iron regulatory elements (IREs): a family of mRNA non-coding sequences

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

Identification and characterization of a spinal muscular atrophy-determining gene

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

Neuromuscular defects in a Drosophila survival motor neuron gene mutant.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

The HFE gene undergoes alternate splicing processes.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

Hepatocyte-specific expression of Cre recombinase

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618680

Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model

27 September 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963428-1

Fixation of Ejaculated Spermatozoa for Electron Microscopy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963428-1

Alternate splicing produces a soluble form of the hereditary hemochromatosis protein HFE

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963428-1

Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963428-1

7 January 2021

Neonatal hemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963428-1

Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963428-1

10.1016/S0002-9440(10)63428-1

7 January 2021

Identifiers

DOI

1 reference

6 August 2017

1 reference

6 August 2017

1 reference