MMG PUBLICATIONS

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Results: 3199  publications found.

Argiro, L.  et al. 2024

Gastruloids are competent to specify both cardiac and skeletal muscle lineages

Cardiopharyngeal mesoderm contributes to the formation of the heart and head muscles. However, the mechanisms governing cardiopharyngeal mesoderm specification remain unclear. Here, we reproduce...
Nat Commun - issue: 1 - volume: 15 - pages: 10172.


Henderson, D.  et al. 2024

Beyond genomic studies of congenital heart defects through systematic modelling and phenotyping

Congenital heart defects (CHDs), the most common congenital anomalies, are considered to have a significant genetic component. However, despite considerable efforts to identify pathogenic genes in...
Dis Model Mech - issue: 11 - volume: 17 - pages: dmm050913.


Jaouadi, H.  et al. 2024

Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.

Background: Approximately half of hypertrophic cardiomyopathy (HCM) patients lack a precise genetic diagnosis. The likelihood of identifying clinically relevant variants increased over time. ...
Front Med - issue: - volume: 11 - pages: 1480947.


Dumas, C.  et al. 2024

Retinoic acid signalling regulates branchiomeric neck muscle development at the head/trunk interface.

Skeletal muscles of the head and trunk originate in distinct lineages with divergent regulatory programmes converging on activation of myogenic determination factors. Branchiomeric head and neck...
Development - issue: 16 - volume: 151 - pages: dev202905.


Kraoua, L.  et al. 2024

Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy.

Background: Dilated cardiomyopathy (DCM) is characterized by dilatation of the left ventricle, systolic dysfunction, and normal or reduced thickness of the left ventricular wall. It is a leading cause...
Mol Genet Genomic Med - issue: - volume: 6 - pages: e2486.


da Silva, A.  et al. 2024

egr3 is a mechanosensitive transcription factor gene required for cardiac valve morphogenesis

Biomechanical forces, and their molecular transducers, including key mechanosensitive transcription factor genes, such as KLF2, are required for cardiac valve morphogenesis. However, klf2 mutants fail...
Sci Adv - issue: 10 - volume: 20 - pages: eadl0633.


Avierinos, J.  et al. 2024

Degenerative mitral regurgitation due to flail leaflet: sex-related differences in presentation, management, and outcomes

Background and aims: Presentation, outcome, and management of females with degenerative mitral regurgitation (DMR) are undefined. We analysed sex-specific baseline clinical and echocardiographic...
Eur Heart J - issue: - volume: - pages: ehae265.


Bernheim, S.  et al. 2023

Identification of Greb1l as a genetic determinant of crisscross heart in mice showing torsion of the heart tube by shortage of progenitor cells

Despite their burden, most congenital defects remain poorly understood, due to lack of knowledge of embryological mechanisms. Here, we identify Greb1l mutants as a mouse model of crisscross heart....
Dev Cell - issue: - volume: 23 - pages: 00493-8.


Abellan Lopez, M.  et al. 2023

In vivo efficacy proof of concept of a large-size bioprinted dermo-epidermal substitute for permanent wound coverage

Introduction: An autologous split-thickness skin graft (STSG) is a standard treatment for coverage of full-thickness skin defects. However, this technique has two major drawbacks: the use of general...
Front Bioeng Biotechnol - issue: - volume: 11 - pages: 1217655.


Vergier, J.  et al. 2023

Misconceptions and beliefs around hormone replacement therapy after childhood hematopoietic stem cell transplantation: A qualitative study among women leukemia survivors

PURPOSE: After childhood leukemia and hematopoietic stem cell transplantation, hormone replacement therapy is often required to induce puberty because of premature ovarian insufficiency. Observance of...
PLoS One - issue: 4 - volume: 18 - pages: e0283940.


Castinetti, F.  et al. 2023

HCG-responsive aldosteronoma with transient secretion during pregnancy confirmed through HCG-stimulated adrenal venous sampling

Primary aldosteronism can be regulated by the ectopic expression of G-protein coupled receptors in aldosteronomas or bilateral hyperplasias. We report a rare case of a young woman in whom 2...
Front Endocrinol (Lausanne) - issue: - volume: 14 - pages: 1153374.


Mac, TT.  et al. 2023

Modeling corticotroph deficiency with pituitary organoids supports the functional role of NFKB2 in human pituitary differentiation

eLife - issue: - volume: - pages: .


Störmann, S.  et al. 2023

The socioeconomic burden of acromegaly

Acromegaly is a rare and insidious disease characterized by chronic excess growth hormone, leading to various morphological changes and systemic complications. Despite its low prevalence, acromegaly...
Eur J Endocrinol - issue: 2 - volume: 189 - pages: R1-R10.


Beaufils, M.  et al. 2023

Dysthyroidism during immune checkpoint inhibitors is associated with improved overall survival in adult cancers: data mining of 1385 electronic patient records

BACKGROUND: Dysthyroidism (DT) is a common toxicity of immune checkpoint inhibitors (ICIs) and prior work suggests that dysthyroidism (DT) might be associated with ICI efficacy. PATIENTS AND METHODS:...
J Immunother Cancer - issue: 8 - volume: 11 - pages: e006786.


Kervarrec, T.  et al. 2023

Recurrent PAK2 rearrangements in poroma with folliculo-sebaceous differentiation

AIMS: Poroma is a benign adnexal neoplasm with differentiation towards the upper portion of the sweat gland apparatus. In 2019, Sekine et al. demonstrated recurrent YAP1::MAML2 and YAP1::NUTM1 fusion...
Histopathology - issue: 2 - volume: 83 - pages: 310-319.


Kervarrec, T.  et al. 2023

Digital Papillary Adenocarcinoma in Nonacral Skin: Clinicopathologic and Genetic Characterization of 5 Cases

Digital papillary adenocarcinoma (DPA) is a rare sweat gland neoplasm that has exceptionally been reported outside acral locations. Recently, human papillomavirus 42 was identified as the main...
Am J Surg Pathol - issue: - volume: - pages: .


Kervarrec, T.  et al. 2023

Sweat Gland Tumors Arising on Acral Sites: A Molecular Survey

Recurrent oncogenic drivers have been identified in a variety of sweat gland tumors. Recently, integration of human papillomavirus type 42 (HPV42) has been reported in digital papillary adenocarcinoma...
Am J Surg Pathol - issue: - volume: - pages: .


Feng, X.  et al. 2023

Comprehensive Immune Profiling Unveils a Subset of Leiomyosarcoma with "Hot" Tumor Immune Microenvironment

Purpose: To investigate the immune biomarker in Leiomyosarcoma (LMS), which is rare and recognized as an immune cold cancer showing a poor response rate (<10%) to immune checkpoint inhibitors (ICIs)....
Cancers (Basel) - issue: 14 - volume: 15 - pages: 3705.


Sahakian, N.  et al. 2023

Pituitary tumor prognostication: WHO is really the best?

Eur J Endocrinol - issue: 1 - volume: 189 - pages: R1-R3.


Sahakian, N.  et al. 2023

Letter to the Editor: The Somatic RET M918T Variant May Modify the Natural History of Germline RET L790F MEN2-Related Medullary Thyroid Carcinoma

Thyroid - issue: - volume: - pages: .