MMG PUBLICATIONS

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Results: 2253  publications found.

Frullanti, E.  et al. 2019

Analysis of the Phenotypes in the Rett Networked Database

Rett spectrum disorder is a progressive neurological disease and the most common genetic cause of intellectual disability in females. MECP2 is the major causative gene. In addition, CDKL5 and FOXG1...
Int J Genomics - issue: - volume: 2019 - pages: 6956934.


Valence, S.  et al. 2019

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

PURPOSE: To investigate the genetic basis of congenital ataxias (CAs), a unique group of cerebellar ataxias with a nonprogressive course, in 20 patients from consanguineous families, and to identify...
Genet. Med. - issue: 3 - volume: 21 - pages: 553-563.


Chang, S.  et al. 2019

A gatekeeping function of the replicative polymerase controls pathway choice in the resolution of lesion-stalled replisomes

- issue: 51 - volume: 116 - pages: 25591-25601.


Puceat, M.  et al. 2019

The primary eyelash at the heart of the pathogenesis of the mitral valve prolapse

Med Sci - issue: 11 - volume: 35 - pages: 836-838.


Chang, S.  et al. 2019

A gatekeeping function of the replicative polymerase controls pathway choice in the resolution of lesion-stalled replisomes

DNA lesions stall the replisome and proper resolution of these obstructions is critical for genome stability. Replisomes can directly replicate past a lesion by error-prone translesion synthesis....
- issue: 51 - volume: 116 - pages: 25591-25601.


Almutairi, B.  et al. 2019

Epigenetic deregulation of GATA3 in neuroblastoma is associated with increased GATA3 protein expression and with poor outcomes

- issue: - volume: 9 - pages: .


Almutairi, B.  et al. 2019

Epigenetic deregulation of GATA3 in neuroblastoma is associated with increased GATA3 protein expression and with poor outcomes

To discover epigenetic changes that may underly neuroblastoma pathogenesis, we identified differentially methylated genes in neuroblastoma cells compared to neural crest cells, the presumptive...
Sci Rep - issue: 9 - volume: 1 - pages: 18934.


Almutairi, B.  et al. 2019

Epigenetic deregulation of GATA3 in neuroblastoma is associated with increased GATA3 protein expression and with poor outcomes

To discover epigenetic changes that may underly neuroblastoma pathogenesis, we identified differentially methylated genes in neuroblastoma cells compared to neural crest cells, the presumptive...
- issue: - volume: 9 - pages: .


Dion, C.  et al. 2019

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

The DNA methylation epigenetic signature is a key determinant during development. Rules governing its establishment and maintenance remain elusive especially at repetitive sequences, which account for...
Nucleic Acids Res. - issue: 6 - volume: 47 - pages: 2822-2839.


Laberthonnière, C.  et al. 2019

Bring It to an End: Does Telomeres Size Matter?

Telomeres are unique nucleoprotein structures. Found at the edge of each chromosome, their main purpose is to mask DNA ends from the DNA-repair machinery by formation of protective loops. Through life...
Cells - issue: 1 - volume: 8 - pages: .


Sayed, ME.  et al. 2019

NOVA1 directs PTBP1 to hTERT pre-mRNA and promotes telomerase activity in cancer cells

Alternative splicing is dysregulated in cancer cells, driving the production of isoforms that allow tumor cells to survive and continuously proliferate. Part of the reactivation of telomerase involves...
Oncogene - issue: 16 - volume: 38 - pages: 2937-2952.


Grelet, M.  et al. 2019

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

- issue: 1 - volume: 14 - pages: .


Swedlund, B.  et al. 2019

Cardiopharyngeal Progenitor Specification: Multiple Roads to the Heart and Head Muscles

During embryonic development, the heart arises from various sources of undifferentiated mesodermal progenitors, with an additional contribution from ectodermal neural crest cells. Mesodermal cardiac...
Cold Spring Harbor perspect Biol - issue: - volume: - pages: .


Malissen, N.  et al. 2019

HVEM has a broader expression than PD-L1 and constitutes a negative prognostic marker and potential treatment target for melanoma

- issue: 12 - volume: 8 - pages: .


Malissen, N.  et al. 2019

HVEM has a broader expression than PD-L1 and constitutes a negative prognostic marker and potential treatment target for melanoma

HVEM (Herpes Virus Entry Mediator) engagement of BTLA (B and T Lymphocyte Attenuator) triggers inhibitory signals in T cells and could play a role in evading antitumor immunity. Here, HVEM expression...
- issue: 12 - volume: 8 - pages: .


Danielsson, A.  et al. 2019

Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement

- issue: 12 - volume: 8 - pages: .


Odelin, G.  et al. 2019

Krox20 Regulates Endothelial Nitric Oxide Signaling in Aortic Valve Development and Disease

Among the aortic valve diseases, the bicuspid aortic valve (BAV) occurs when the aortic valve has two leaflets (cusps), rather than three, and represents the most common form of congenital cardiac...
J Cardiovasc Dev Dis - issue: 4 - volume: 6 - pages: .


Nair, P.  et al. 2019

Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review

- issue: 4 - volume: 8 - pages: 252-255.


Denis, JA.  et al. 2019

Development of molecular analyzes by digital PCR for clinical practice: positioning, current applications and perspectives

- issue: 6 - volume: 77 - pages: 619-637.


Roche, S.  et al. 2019

Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism

Objective: To investigate the distribution of cytosine-guanine dinucleotide (CpG) sites with a variable level of DNA methylation of the D4Z4 macrosatellite element in patients with facioscapulohumeral...
Neurol Genet - issue: 6 - volume: 5 - pages: e372.