MMG PUBLICATIONS

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Results: 2262  publications found.

Mégarbané, A.  et al. 2020

Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome

We report on a multiply consanguineous Syrian family where two siblings, a boy and a girl, presented with a compilation of symptoms including developmental delay, severe intellectual disability,...
Am. J. Med. Genet. A - issue: - volume: - pages: e61730.


Mazaleyrat, K.  et al. 2020

Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells.

Induced pluripotent stem cells (iPSCs) obtained by reprogramming primary somatic cells have revolutionized the fields of cell biology and disease modeling. However, the number protocols for generating...
Cells - issue: 6 - volume: 9 - pages: 1531.


Sánchez-Valle, J.  et al. 2020

Interpreting molecular similarity between patients as a determinant of disease comorbidity relationships

Comorbidity is a medical condition attracting increasing attention in healthcare and biomedical research. Little is known about the involvement of potential molecular factors leading to the emergence...
Nature Comm - issue: 1 - volume: 11 - pages: 2854.


Suffee, N.  et al. 2020

Reactivation of the Epicardium at the Origin of Myocardial Fibro-Fatty Infiltration During the Atrial Cardiomyopathy.

Rationale: Fibro-fatty infiltration of subepicardial layers of the atrial wall has been shown to contribute to the substrate of atrial fibrillation. Objective: Here, we examined if the epicardium...
Circ Res - issue: 10 - volume: 126 - pages: 1330-1342.


Bizzari, S.  et al. 2020

Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3

We have previously reported on a consanguineous family where 2 siblings, a girl and a boy, presented with tall stature, long and triangular faces, prominent forehead, telecanthus, ptosis, everted...
Eur J Med Genet - issue: 5 - volume: 63 - pages: 103869.


Milh, M.  et al. 2020

A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment

OBJECTIVE: Early onset epileptic encephalopathy with suppression-burst is one of the most severe epilepsy phenotypes in human patients. A significant proportion of cases have a genetic origin, and the...
Epilepsia - issue: 5 - volume: 61 - pages: 868-878.


Cerino, M.  et al. 2020

Novel CAPN3 variant associated with an autosomal dominant calpainopathy

AIMS: The most common autosomal recessive limb girdle muscular dystrophy is associated with the CAPN3 gene. The exclusively recessive inheritance of this disorder has been recently challenged by the...
Neuropathol. Appl. Neurobiol. - issue: - volume: - pages: .


Mazaleyrat, K.  et al. 2020

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by incomplete penetrance and intra-familial clinical variability. The disease has been associated with the genetic and epigenetic...
Int J Mol Sci - issue: 7 - volume: 21 - pages: 2635.


Gorokhov, M.  et al. 2020

A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports

In order to properly interpret the results of a diagnostic gene panel sequencing test, gene coverage needs to be taken into consideration. If coverage is too low, an additional re-sequencing test is...
Sci Rep - issue: 1 - volume: 10 - pages: 6247.


Faucherre, A.  et al. 2020

Piezo1 is required for outflow tract and aortic valve development

AIMS: During embryogenesis, the onset of circulatory blood flow generates a variety of hemodynamic forces which reciprocally induce changes in cardiovascular development and performance. It has been...
J Mol Cell Cardio - issue: - volume: 143 - pages: 51-62.


Ballouhey, O.  et al. 2020

[CRISPR-Cas9 for muscle dystrophies]

Muscular dystrophies are a group of rare muscular disorders characterized by weakness and progressive degeneration of the muscle. They are diseases of genetic origin caused by the mutation of one or...
Med Sci (Paris) - issue: 4 - volume: 36 - pages: 358-366.


Charfeddine, C.  et al. 2020

Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family

Molecular diagnosis of rare inherited palmoplantar keratoderma (PPK) is still challenging. We investigated at the clinical and genetic level a consanguineous Tunisian family presenting an autosomal...
J. Hum. Genet. - issue: 4 - volume: 65 - pages: 397-410.


Robin, JD.  et al. 2020

Mitochondrial function in skeletal myofibers is controlled by a TRF2-SIRT3 axis over lifetime.

Telomere shortening follows a developmentally regulated process that leads to replicative senescence of dividing cells. However, whether telomere changes are involved in postmitotic cell function and...
Aging Cell - issue: 3 - volume: 19 - pages: e13097.


Salort-Campana, E.  et al. 2020

Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.

Molecular defects in type 1 facioscapulohumeral muscular dystrophy (FSHD) are caused by a heterozygous contraction of the D4Z4 repeat array from 1 to 10 repeat units (RUs) on 4q35. This study compared...
int J Mol Sci - issue: 6 - volume: 21 - pages: 2221.


Mortreux, J.  et al. 2020

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a hereditary sensory-motor neuropathy characterized by a strong clinical and genetic heterogeneity. Over the past few years, with the occurrence of whole-exome...
J. Hum. Genet. - issue: 3 - volume: 65 - pages: 313-323.


Salsi, V.  et al. 2020

Does DNA Methylation Matter in FSHD?

Facioscapulohumeral muscular dystrophy (FSHD) has been associated with the genetic and epigenetic molecular features of the CpG-rich D4Z4 repeat tandem array at 4q35. Reduced DNA methylation of D4Z4...
Genes - issue: 3 - volume: 11 - pages: 258.


Ehinger, Y.  et al. 2020

Huntingtin phosphorylation governs BDNF homeostasis and improves the phenotype of Mecp2 knockout mice

Mutations in the X-linked MECP2 gene are responsible for Rett syndrome (RTT), a severe neurological disorder for which there is no treatment. Several studies have linked the loss of MeCP2 function to...
EMBO Mol Med - issue: 2 - volume: 12 - pages: e10889.


Wünnemann, F.  et al. 2020

Loss of ADAMTS19 causes progressive non-syndromic heart valve disease.

Valvular heart disease is observed in approximately 2% of the general population1. Although the initial observation is often localized (for example, to the aortic or mitral valve), disease...
Nat Genet - issue: 1 - volume: 52 - pages: 40-47.


Jaouadi, H.  et al. 2020

Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young

Unexplained sudden death in the young is cardiovascular in most cases. Structural and conduction defects in cardiac-related genes can conspire to underlie sudden cardiac death. Here we report a...
Herz - issue: - volume: - pages: .


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