de la Fouchardi, . et al. 2021 Cutaneous Melanomas Arising during Childhood: An Overview of the Main Entities. Cutaneous melanomas are exceptional in children and represent a variety of clinical situations, each with a different prognosis. In congenital nevi, the risk of transformation is correlated with the... Dermatopathology (Basel) - issue: 3 - volume: 8 - pages: 301-314.
Malissen, N. et al. 2021 Surgery of small bowel melanoma metastases in the era of efficient medical therapies: a retrospective cohort study. Surgery of small bowel melanoma metastases has to be reconsidered in the era of targeted treatments and immunotherapy. To retrospectively assess context and outcomes of small bowel melanoma... Melanoma Res - issue: 4 - volume: 31 - pages: 358-365.
Oei, W. et al. 2021 Development of an international core domain set for medium, large and giant congenital melanocytic naevi as a first step towards a core outcome set for clinical practice and research. BACKGROUND: Medium, large and giant congenital melanocytic naevi (CMN) can impose a psychosocial burden on patients and families, and are associated with increased risk of developing melanoma or... Br J Dermatol - issue: 2 - volume: 185 - pages: 371-379.
Pucéat, M. et al. 2021 Capturing Chromosome Conformation The genome is organized in 3D topology-associated domains to ensure proper gene transcriptional processes. The chromosome conformation capture (3C) is an affordable method to investigate local... Methods Mol Biol - issue: - volume: 2157 - pages: 1-7.
Jdila, MB. et al. 2021 A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity BACKGROUND: Developmental and epileptic encephalopathies (DEE) are chronic neurological conditions where epileptic activity contributes to the progressive disruption of brain function, frequently... Orphanet J Rare Dis - issue: 1 - volume: 16 - pages: 317.
Gaudy-Marqueste, C. et al. 2021 Molecular characterization of fast-growing melanomas. BACKGROUND: The rate of growth of primary melanoma is a robust predictor of aggressiveness, but the mutational profile of fast-growing melanomas (FGMM) and the potential to stratify patients at high... J Am Acad Dermatol - issue: - volume: - pages: .
Romanet, P. et al. 2021 Somatotroph Tumors and the Epigenetic Status of the GNAS Locus. Forty percent of somatotroph tumors harbor recurrent activating GNAS mutations, historically called the gsp oncogene. In gsp-negative somatotroph tumors, GNAS expression itself is highly variable;... Int J Mol Sci - issue: 14 - volume: 22 - pages: .
Srivastava, S. et al. 2021 Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder In humans, de novo truncating variants in WASF1 (Wiskott-Aldrich syndrome protein family member 1) have been linked to presentations of moderate-to-profound intellectual disability (ID), autistic... Brain Sci - issue: 7 - volume: 11 - pages: 931.
Iqbal, M. et al. 2021 Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies PURPOSE: We aimed to define a novel autosomal recessive neurodevelopmental disorder, characterize its clinical features, and identify the underlying genetic cause for this condition. METHODS: We... Genet Med - issue: - volume: - pages: .
Castinetti, F. et al. 2021 Osilodrostat in Cushing's disease: The risk of delayed adrenal insufficiency should be carefully monitored. Antisecretory data shows a highly effective and prolonged blockade of cortisol secretion with osilodrostat. The drawback is the occurrence of adrenal insufficiency (AI) in roughly a quarter of... Clin Endocrinol (Oxf) - issue: - volume: - pages: .
Le Roux, M. et al. 2021 CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients CACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (FHM1). Epilepsy is poorly... Eur J Paediatr Neurol - issue: - volume: 33 - pages: 75-85.
Graillon, T. et al. 2021 Role of 3D volume growth rate for drug activity evaluation in meningioma clinical trials: the example of the CEVOREM study. BACKGROUND: We aimed to improve the assessment of the drug activity in meningioma clinical trials based on the study of the 3D volume growth rate (3DVGR) in a series of aggressive meningiomas. We... Neuro Oncol - issue: 7 - volume: 23 - pages: 1139-1147.
Gentile, A. et al. 2021 The EMT transcription factor Snai1 maintains myocardial wall integrity by repressing intermediate filament gene expression. The transcription factor Snai1, a well-known regulator of epithelial-to-mesenchymal transition, has been implicated in early cardiac morphogenesis as well as in cardiac valve formation. However, a... eLife - issue: - volume: 10 - pages: e66143.
Castinetti, F. et al. 2021 Approach to the Patient Treated with Steroidogenesis Inhibitors. Steroidogenesis inhibitors can be given to control the hypercortisolism of Cushing's syndrome in various situations: when surgery has been unsuccessful or not possible; in metastatic... J Clin Endocrinol Metab - issue: 7 - volume: 106 - pages: 2114-2123.
Salvi, A. et al. 2021 Commentary: Long-Term Exercise Reduces Formation of Tubular Aggregates and Promotes Maintenance of Ca2+ Entry Units in Aged Muscle Front Physiol - issue: - volume: 12 - pages: 663677.
Cuny, T. et al. 2021 Characterization of the ability of a, second-generation SST-DA chimeric molecule, TBR-065, to suppress GH secretion from human GH-secreting adenoma cells. CONTEXT: Somatostatin (SST) and dopamine (DA) inhibit growth hormone (GH) secretion and proliferation of GH-secreting pituitary adenomas (GHomas) through binding to SSTR2 and D2R receptors. Chimeric... Pituitary - issue: 3 - volume: 24 - pages: 351-358.
Saultier, P. et al. 2021 GATA1 pathogenic variants disrupt MYH10 silencing during megakaryopoiesis BACKGROUND: GATA1 is an essential transcription factor for both polyploidization and megakaryocyte (MK) differentiation. The polyploidization defect observed in GATA1 variant carriers is not well... J Thromb Haemost - issue: - volume: - pages: .
Eydoux, R. et al. 2021 Women's perceptions of femininity after craniopharyngioma: a qualitative study. BACKGROUND: Previous quantitative studies have shown a reduced quality of life in patients treated for craniopharyngioma (CP). However, few have assessed their sexual quality of life and other issues... Clin Endocrinol (Oxf) - issue: 5 - volume: 94 - pages: 880-887.
Charnay, T. et al. 2021 Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients PURPOSE: Recent evolution of sequencing technologies and the development of international standards in variant interpretation have profoundly changed the diagnostic approaches in clinical genetics. As... Genet Med - issue: - volume: - pages: .
Ehinger, Y. et al. 2021 Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome Mutations in the X-linked MECP2 gene are responsible for Rett syndrome (RTT), a severe neurological disorder. MECP2 is a transcriptional modulator that finely regulates the expression of many genes,... Int J Mol Sci - issue: 9 - volume: 22 - pages: 4316.