MMG PUBLICATIONS

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Results: 2278  publications found.

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

- 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.


Danielsson, A.  et al. 2019

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

Pallidal deep brain stimulation is an established treatment in dystonia. Available data on the effect in DYT-THAP1 dystonia (also known as DYT6 dystonia) are scarce and long-term follow-up studies are...
- 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...
- issue: 4 - volume: 6 - pages: .


Nair, P.  et al. 2019

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

Pathogenic variants in the TRAPPC6B gene were recently found to be associated in three consanguineous families, with microcephaly, epilepsy, and brain malformations. Here, we report on a 3.5-year-old...
- 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

This review is the second part of the workshop on digital PCR (dPCR) proposed by the working group of the French society of clinical biology. The first part of the paper discusses the advantages and...
- 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.


Nair, P.  et al. 2019

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

Pathogenic variants in the TRAPPC6B gene were recently found to be associated in three consanguineous families, with microcephaly, epilepsy, and brain malformations. Here, we report on a 3.5-year-old...
J Pediatr Genet - issue: 4 - volume: 8 - pages: 252-256.


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.


Nair, P.  et al. 2019

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

Pathogenic variants in the TRAPPC6B gene were recently found to be associated in three consanguineous families, with microcephaly, epilepsy, and brain malformations. Here, we report on a 3.5-year-old...
J Pediatr Genet - issue: 4 - volume: 8 - pages: 252-256.


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: - volume: 6 (4) - pages: 39.


Piche, J.  et al. 2019

The expanding phenotypes of cohesinopathies: one ring to rule them all!

- issue: 21 - volume: 18 - pages: 2828-2848.