MMG PUBLICATIONS

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Results: 4199  publications found.

Fabre, A.  et al. 2014

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors

The RNA exosome has a key role in RNA decays and RNA quality control. In 2012, two human Mendelian diseases: syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) and Ponto-cerebellar hypoplasia...
Intractable Rare Dis Res - issue: 1 - volume: 3 - pages: 8-11.

Ibáñez, K.  et al. 2014

Molecular evidence for the inverse comorbidity between central nervous system disorders and cancers detected by transcriptomic meta-analyses

There is epidemiological evidence that patients with certain Central Nervous System (CNS) disorders have a lower than expected probability of developing some types of Cancer. We tested here the...
PLoS Genet. - issue: 2 - volume: 10 - pages: e1004173.

Villeneuve, N.  et al. 2014

Cognitive and adaptive evaluation of 21 consecutive patients with Dravet syndrome

In order to assess the cognitive and adaptive profiles of school-aged patients with Dravet syndrome (DS), we proposed to evaluate the intelligence and adaptive scores in twenty-one 6- to 10-year-old...
Epilepsy Behav - issue: - volume: 31 - pages: 143-148.

Beau-Faller, M.  et al. 2014

A Multicenter Blinded Study Evaluating EGFR and KRAS Mutation Testing Methods in the Clinical Non-Small Cell Lung Cancer Setting-IFCT/ERMETIC2 Project Part 1 Comparison of Testing Methods in 20 French Molecular Genetic National Cancer Institute Platforms

Epidermal growth factor receptor (EGFR)-tyrosine kinase inhibitors have limited use as first-line treatment for mutated EGFR metastatic non-small cell lung cancer. The French National Cancer Institute...
J. Mol. Diagn. - issue: 1 - volume: 16 - pages: 45-55.

Frasca, B.  et al. 2014

Comparative study of Se oxyanions retention on three argillaceous rocks: Upper Toarcian (Tournemire, France), Black Shales (Tournemire, France) and Opalinus Clay (Mont Terri, Switzerland)

A comparative study of selenium oxyanion sorption was carried out by means of batch sorption experiments on three argillaceous rocks that differ in their mineralogical compositions and textural...
J Environ Radioact - issue: - volume: 127 - pages: 133-140.

Hamdi, H.  et al. 2014

Long-term functional benefits of epicardial patches as cell carriers

Both enzymatic dissociation of cells prior to needle-based injections and poor vascularization of myocardial infarct areas are two important contributors to cell death and impede the efficacy of...
Cell Transplant - issue: 1 - volume: 23 - pages: 87-96.

Demonbreun, AR.  et al. 2014

Dysferlin and myoferlin regulate transverse tubule formation and glycerol sensitivity

Dysferlin is a membrane-associated protein implicated in muscular dystrophy and vesicle movement and function in muscles. The precise role of dysferlin has been debated, partly because of the mild...
Am. J. Pathol. - issue: 1 - volume: 184 - pages: 248-259.

Frasca, B.  et al. 2014

Comparative study of Se oxyanions retention on three argillaceous rocks: Upper Toarcian (Tournemire, France), Black Shales (Tournemire, France) and Opalinus Clay (Mont Terri, Switzerland)

A comparative study of selenium oxyanion sorption was carried out by means of batch sorption experiments on three argillaceous rocks that differ in their mineralogical compositions and textural...
J Environ Radioact - issue: - volume: 127 - pages: 133-140.

Bladen, CL.  et al. 2014

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the...
J. Neurol. - issue: 1 - volume: 261 - pages: 152-163.

Ferreboeuf, M.  et al. 2014

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent adult muscular dystrophies. The common clinical signs usually appear during the second decade of life but when the first...
Hum. Mol. Genet. - issue: 1 - volume: 23 - pages: 171-181.

Ferreboeuf, M.  et al. 2014

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent adult muscular dystrophies. The common clinical signs usually appear during the second decade of life but when the first...
Hum. Mol. Genet. - issue: 1 - volume: 23 - pages: 171-181.

Kaddoum, L.  et al. 2013

Isoform-specific anti-MeCP2 antibodies confirm that expression of the e1 isoform strongly predominates in the brain

Rett syndrome is a neurological disorder caused by mutations in the MECP2 gene.  MeCP2 transcripts are alternatively spliced to generate two protein isoforms (MeCP2_e1 and MeCP2_e2) that differ at...
F1000Res - issue: - volume: 2 - pages: 204.

Yajima, I.  et al. 2013

A subpopulation of smooth muscle cells, derived from melanocyte-competent precursors, prevents patent ductus arteriosus

BACKGROUND: Patent ductus arteriosus is a life-threatening condition frequent in premature newborns but also present in some term infants. Current mouse models of this malformation generally lead to...
PLoS ONE - issue: 1 - volume: 8 - pages: e53183.

Sallée, M.  et al. 2013

Alternative splicing events is not a key event for gene expression regulation in uremia

BACKGROUND: The control of gene expression in the course of chronic kidney disease (CKD) is not well addressed. Alternative splicing is a common way to increase complexity of proteins. More than 90%...
PLoS ONE - issue: 12 - volume: 8 - pages: e82702.

Maione, L.  et al. 2013

R31C GNRH1 mutation and congenital hypogonadotropic hypogonadism

Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare reproductive disease leading to lack of puberty and infertility. Loss-of-function mutations of GNRH1 gene are a very rare cause of...
PLoS ONE - issue: 7 - volume: 8 - pages: e69616.

Sallée, M.  et al. 2013

Alternative splicing events is not a key event for gene expression regulation in uremia

BACKGROUND: The control of gene expression in the course of chronic kidney disease (CKD) is not well addressed. Alternative splicing is a common way to increase complexity of proteins. More than 90%...
PLoS ONE - issue: 12 - volume: 8 - pages: e82702.

Blandin, G.  et al. 2013

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome

Background: The complexity of the skeletal muscle and the identification of numerous human disease-causing mutations in its constitutive proteins make it an interesting tissue for proteomic studies...
Skeletal Muscle - issue: - volume: 3 - pages: 3.

Blandin, G.  et al. 2013

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome

Background: The complexity of the skeletal muscle and the identification of numerous human disease-causing mutations in its constitutive proteins make it an interesting tissue for proteomic studies...
Skeletal Muscle - issue: - volume: 3 - pages: 3.

Blandin, G.  et al. 2013

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome

BACKGROUND: The complexity of the skeletal muscle and the identification of numerous human disease-causing mutations in its constitutive proteins make it an interesting tissue for proteomic studies...
Skelet Muscle - issue: 1 - volume: 3 - pages: 3.

Blandin, G.  et al. 2013

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome

Background: The complexity of the skeletal muscle and the identification of numerous human disease-causing mutations in its constitutive proteins make it an interesting tissue for proteomic studies...
Skeletal Muscle - issue: - volume: 3 - pages: 3.