MMG PUBLICATIONS

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Results: 1693  publications found.

Mancini, J.  et al. 2018

Effect of desipramine on patients with breathing disorders in RETT syndrome

Objective: Rett Syndrome (RTT) is a severe neurodevelopmental condition with breathing disorders, affecting around one in 10,000 female births. Desipramine, a noradrenaline reuptake inhibitor, reduced...
Ann Clin Transl Neurol - issue: 2 - volume: 5 - pages: 118-127.


Mortreux, J.  et al. 2018

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

INTRODUCTION: A large number of genes involved in autosomal recessive forms of intellectual disability (ID) were identified over the past few years through whole-exome sequencing (WES) or whole-genome...
Eur. J. Hum. Genet. - issue: 1 - volume: 26 - pages: 143-148.


Barthélémy, F.  et al. 2018

Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet

Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal...
J Neuromuscul Dis - issue: 1 - volume: 5 - pages: 21-28.


Harhouri, K.  et al. 2018

An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome

Hutchinson-Gilford progeria syndrome (HGPS) is a sporadic, autosomal dominant disorder characterized by premature and accelerated aging symptoms leading to death at the mean age of 14.6years usually...
Nucleus - issue: 1 - volume: 9 - pages: 246-257.


Barthélémy, F.  et al. 2018

Dysferlin Exon 32 Skipping in Patient Cells

Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize...
Methods Mol. Biol. - issue: - volume: 1828 - pages: 489-496.


Barthélémy, F.  et al. 2018

Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet

Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal...
J Neuromuscul Dis - issue: 1 - volume: 5 - pages: 21-28.


Lescroart, F.  et al. 2018

Hox and Tale transcription factors in heart development and disease

Hox genes are highly conserved transcription factors with critical functions during development, in particular for patterning the antero-posterior axis of the embryo. Their action is very often...
Int. J. Dev. Biol. - issue: 11-12 - volume: 62 - pages: 837-846.


Barthélémy, F.  et al. 2018

Dysferlin Exon 32 Skipping in Patient Cells

Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize...
Methods Mol. Biol. - issue: - volume: 1828 - pages: 489-496.


Didier, G.  et al. 2018

Identifying communities from multiplex biological networks by randomized optimization of modularity

The identification of communities, or modules, is a common operation in the analysis of large biological networks. The Disease Module Identification DREAM challenge established a framework to evaluate...
F1000Res - issue: - volume: 7 - pages: 1042.


Barthélémy, F.  et al. 2018

Dysferlin Exon 32 Skipping in Patient Cells

Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize...
Methods Mol. Biol. - issue: - volume: 1828 - pages: 489-496.


Hubert, F.  et al. 2018

FGF10 Signaling in Heart Development, Homeostasis, Disease and Repair

Essential muscular organ that provides the whole body with oxygen and nutrients, the heart is the first organ to function during embryonic development. Cardiovascular diseases, including acquired and...
Front Genet - issue: - volume: 9 - pages: 599.


Barthélémy, F.  et al. 2018

Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet

Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal...
J Neuromuscul Dis - issue: 1 - volume: 5 - pages: 21-28.


Guien, C.  et al. 2018

The French National Registry of patients with Facioscapulohumeral muscular dystrophy

BACKGROUND: Facioscapulohumeral muscular dystrophy is a rare inherited neuromuscular disease with an estimated prevalence of 1/20,000 and France therefore harbors about 3000 FSHD patients. With...
Orphanet J Rare Dis - issue: 1 - volume: 13 - pages: 218.


Zaffran, S.  et al. 2018

Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations

Members of the large family of Hox transcription factors are encoded by genes whose tightly regulated expression in development and in space within different embryonic tissues confer positional...
Genesis - issue: 6-7 - volume: 56 - pages: e23221.


Macagno, N.  et al. 2018

Reduced H3K27me3 Expression is Common in Nodular Melanomas of Childhood Associated With Congenital Melanocytic Nevi But Not in Proliferative Nodules

Am. J. Surg. Pathol. - issue: 5 - volume: 42 - pages: 701-704.


Thomas, AC.  et al. 2018

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development

BACKGROUND: MC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (?MSH), modulates pigment production in melanocytes from many species and is associated with...
Birth Defects Res - issue: 5 - volume: 110 - pages: 443-455.


Etchevers, HC.  et al. 2018

Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF

Giant congenital melanocytic nevi may be symptomatically isolated or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A...
Pigment Cell Melanoma Res - issue: 3 - volume: 31 - pages: 437-441.


Nair, P.  et al. 2018

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases

BACKGROUND: According to the Catalogue of Transmission Genetics in Arabs, less than half of diseases reported in Lebanese patients are mapped. In the recent years, Next Generation Sequencing (NGS)...
Mol Genet Genomic Med - issue: 6 - volume: 6 - pages: 1041-1052.


Barthélémy, F.  et al. 2018

Dysferlin Exon 32 Skipping in Patient Cells

Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize...
Methods Mol. Biol. - issue: - volume: 1828 - pages: 489-496.


Barthélémy, F.  et al. 2018

Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet

Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal...
J Neuromuscul Dis - issue: 1 - volume: 5 - pages: 21-28.