MMG PUBLICATIONS

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Results: 2641  publications found.

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.


Lojou, M.  et al. 2020

IgG4 hypophysitis: Diagnosis and management.

IgG4-related hypophysitis is a rare disease, due to a lymphoplasmocytic IgG4 positive infiltration of the pituitary. Literature data are scarce, even though the description of cases has drastically...
Presse Med - issue: 1 - volume: 49 - pages: 104016.


Lucia, K.  et al. 2020

Hypoxia and the hypoxia inducible factor 1α activate protein kinase A by repressing RII beta subunit transcription.

Overactivation of the cAMP signal transduction pathway plays a central role in the pathogenesis of endocrine tumors. Genetic aberrations leading to increased intracellular cAMP or directly affecting...
Oncogene - issue: 16 - volume: 39 - pages: 3367-3380.


Graillon, T.  et al. 2020

Surgical indications for pituitary tumors during pregnancy: a literature review.

PURPOSE: Surgical indications for pituitary tumors during pregnancy are rare, and are derived from a balance between expected benefits, particularly for maternal benefits, and anesthetic/surgical...
Pituitary - issue: 2 - volume: 23 - pages: 189-199.


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.


Payan, SM.  et al. 2020

Cardiomyocyte proliferation, a target for cardiac regeneration

Cardiac diseases, characterized by cardiomyocyte loss, lead to dramatic impairment of cardiac function and ultimately to congestive heart failure. Despite significant advances, conventional treatments...
Biochim Biophys Acta Mol Cell Res - issue: 3 - volume: 1867 - pages: 118461.


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.


Graillon, T.  et al. 2020

Fluctuation analysis of postoperative secretory status in patients operated for acromegaly.

OBJECTIVE: The aim of this study was to describe endocrinological outcome in patients operated on for acromegaly. METHODS: A retrospective study included 167 patients. Patients were assessed in the...
Ann Endocrinol (Paris) - issue: 1 - volume: 81 - pages: 11-17.


Jullien, M.  et al. 2020

Comparison of 68Ga-Dotatate PET/CT and 18F-FDOPA PET/CT for the diagnosis of pancreatic neuroendocrine tumors in a MEN1 patient.

CONTEXT: Pancreatic neuroendocrine tumors (PNETs) occur in more than 80% of patients with multiple endocrine neoplasia type 1 (MEN1) syndrome, with predominance of small (<1cm) non-functioning...
Ann Endocrinol (Paris) - issue: 1 - volume: 81 - pages: 39-43.


Graillon, T.  et al. 2020

Everolimus and Octreotide for Patients with Recurrent Meningioma: Results from the Phase II CEVOREM Trial.

PURPOSE: Aggressive meningiomas that progress after surgery/radiotherapy represent an unmet medical need. Strong and constant expression of SSTR2A receptors and activation of the Pi3K/Akt/mTOR...
Clin Cancer Res - issue: 3 - volume: 26 - pages: 552-557.


Graillon, T.  et al. 2020

Transcranial approach in giant pituitary adenomas: results and outcome in a modern series.

BACKGROUND: Today, transcranial (TC) approach indications are particularly rare in pituitary adenomas (PA), representing 1.1% of all PA surgeries in our experience. In these rare and selected cases,...
J Neurosurg Sci - issue: 1 - volume: 64 - pages: 25-36.


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: .


Bensimon-Brito A., .  et al. 2020

TGF-β Signaling Promotes Tissue Formation during Cardiac Valve Regeneration in Adult Zebrafish

Cardiac valve disease can lead to severe cardiac dysfunction and is thus a frequent cause of morbidity and mortality. Its main treatment is valve replacement, which is currently greatly limited by the...
Dev Cell - issue: 52 - volume: 1 - pages: 9-20.e7.


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.