PUBLICATIONS of MMG

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Résultats : 3199  publications trouvées.

Stefanovic, S.  et al. 2020

Hox-dependent coordination of mouse cardiac progenitor cell patterning and differentiation

Perturbation of addition of second heart field (SHF) cardiac progenitor cells to the poles of the heart tube results in congenital heart defects (CHD). The transcriptional programs and upstream...
eLife - issue: - volume: 9 - pages: e55124.

Pitrez, P.  et al. 2020

Vulnerability of progeroid smooth muscle cells to biomechanical forces is mediated by MMP13.

Hutchinson-Gilford Progeria Syndrome (HGPS) is a premature aging disease in children that leads to early death. Smooth muscle cells (SMCs) are the most affected cells in HGPS individuals, although the...
Nat Comm - issue: 1 - volume: 11 - pages: 4110.

Stefanovic, S.  et al. 2020

Hox-dependent coordination of mouse cardiac progenitor cell patterning and differentiation

Perturbation of addition of second heart field (SHF) cardiac progenitor cells to the poles of the heart tube results in congenital heart defects (CHD). The transcriptional programs and upstream...
Elife - issue: - volume: 9 - pages: e55124.

Castinetti, F.  et al. 2020

Adrenal Crisis May Occur Even In Patients With Asymptomatic Covid-19.

Endocr Pract - issue: 8 - volume: 26 - pages: 929-930.

Cerino, M.  et al. 2020

Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy

BACKGROUND: GLE1 (GLE1, RNA Export Mediator, OMIM#603371) variants are associated with severe autosomal recessive motor neuron diseases, that are lethal congenital contracture syndrome 1 (LCCS1,...
Mol Genet Genomic Med - issue: 8 - volume: 8 - pages: e1277.

Lenders, JWM.  et al. 2020

Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma: a position statement and consensus of the Working Group on Endocrine Hypertension of the European Society of Hypertension.

: Phaeochromocytoma and paraganglioma (PPGL) are chromaffin cell tumours that require timely diagnosis because of their potentially serious cardiovascular and sometimes life- threatening sequelae....
J Hypertens - issue: 8 - volume: 38 - pages: 1443-1456.

Dionnet, E.  et al. 2020

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

Improving the accuracy of variant interpretation during diagnostic sequencing is a major goal for genomic medicine. To explore an often-overlooked splicing effect of missense variants, we developed...
Hum. Mutat. - issue: - volume: - pages: .

Fontana, F.  et al. 2020

Antagonistic Activities of Vegfr3/Flt4 and Notch1b Fine-tune Mechanosensitive Signaling during Zebrafish Cardiac Valvulogenesis

The formation of cardiac valves depends on mechanical forces exerted by blood flow. Endocardial cells lining the interior of the heart are sensitive to these stimuli and respond by rearranging into...
Cell Rep - issue: 2 - volume: 32 - pages: 107883.

Amodru, V.  et al. 2020

Correction to: MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Endocrine - issue: - volume: - pages: .

Fontana, F.  et al. 2020

Antagonistic Activities of Vegfr3/Flt4 and Notch1b Fine-tune Mechanosensitive Signaling during Zebrafish Cardiac Valvulogenesis.

The formation of cardiac valves depends on mechanical forces exerted by blood flow. Endocardial cells lining the interior of the heart are sensitive to these stimuli and respond by rearranging into...
Cell Rep - issue: 2 - volume: 32 - pages: 107883.

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.

Trivisano, M.  et al. 2020

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

Fibroblast growth-factor homologous factor (FHF1) gene variants have recently been associated with developmental and epileptic encephalopathy (DEE). FHF1 encodes a cytosolic protein that modulates...
Epilepsia - issue: 7 - volume: 61 - pages: e71-e78.

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.

Eggermann, T.  et al. 2020

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).

BACKGROUND: With the development of molecular high-throughput assays (i.e. next generation sequencing), the knowledge on the contribution of genetic and epigenetic alterations to the etiology of...
Orphanet J Rare Dis - issue: 1 - volume: 15 - pages: 144.

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.

Larsen, LV.  et al. 2020

Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.

OBJECTIVE: Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by RET germline mutations and has been associated with primary hyperparathyroidism (PHPT) in up to 30% of cases....
Endocr Connect - issue: 6 - volume: 9 - pages: 489-497.

Colao, A.  et al. 2020

Pasireotide for acromegaly: long-term outcomes from an extension to the Phase III PAOLA study.

OBJECTIVE: In the Phase III PAOLA study (clinicaltrials.gov: NCT01137682), enrolled patients had uncontrolled acromegaly despite ≥6 months of octreotide/lanreotide treatment before study start....
Eur J Endocrinol - issue: 6 - volume: 182 - pages: 583.

Castinetti, F.  et al. 2020

Radiation techniques in aggressive pituitary tumours and carcinomas.

Defining the role of radiation techniques in treatment of aggressive pituitary tumours and carcinomas is a difficult task: indeed, studies reported in the literature on this topic can probably be...
Rev Endocr Metab Disord - issue: 2 - volume: 21 - pages: 287-292.

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 that...
Circ Res - issue: 10 - volume: 126 - pages: 1330-1342.

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.