MMG PUBLICATIONS

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Results: 3220  publications found.

Warnez-Soulie, J.  et al. 2019

Tumor protein 53-induced nuclear protein 1 deficiency alters mouse gastrocnemius muscle function and bioenergetics in vivo

Tumor protein 53-induced nuclear protein 1 (TP53INP1) deficiency leads to oxidative stress-associated obesity and insulin resistance. Although skeletal muscle has a predominant role in the development...
Physiol Rep - issue: 10 - volume: 7 - pages: e14055.

El-Bazzal, L.  et al. 2019

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1

Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of diseases, resembling Charcot-Marie-Tooth syndromes, but characterized by an exclusive involvement of the motor part of the...
Hum. Mol. Genet. - issue: 14 - volume: 28 - pages: 2378-2394.

Jaouadi, H.  et al. 2019

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

Noonan syndrome and related disorders are a group of clinically and genetically heterogeneous conditions caused by mutations in genes of the RAS/MAPK pathway. Noonan syndrome causes multiple...
Genet Res (Camb) - issue: - volume: 101 - pages: e6.

Chikhaoui, A.  et al. 2019

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder due to a defect in the nucleotide excision repair (NER) DNA repair pathway, characterized by severe sunburn development of freckles,...
Front Genet - issue: - volume: 10 - pages: 111.

Jalkh, N.  et al. 2019

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

BACKGROUND: The past few decades have witnessed a tremendous development in the field of genetics. The implementation of next generation sequencing (NGS) technologies revolutionized the field of...
BMC Med Genomics - issue: 1 - volume: 12 - pages: 11.

Krahn, M.  et al. 2019

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

Next-generation sequencing (NGS) gene-panel-based analyses constitute diagnosis strategies which are adapted to the genetic heterogeneity within the field of myopathies, including more than 200...
Eur. J. Hum. Genet. - issue: 3 - volume: 27 - pages: 349-352.

Francastel C, MF.  et al. 2019

DNA methylation in satellite repeats disorders.

Essays Biochem. - issue: - volume: - pages: 63(6):757-771..

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: .