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.
Stefanovic, S. et al. 2021 Outflow tract formation - Embryonic origins of conotruncal congenital heart disease Anomalies in the cardiac outflow tract (OFT) are among the most frequent congenital heart defects (CHDs). During embryogenesis, the cardiac OFT is a dynamic structure at the arterial pole of the... J Cardiovasc Dev Dis. - issue: 8 - volume: 4 - pages: 42.
Jaouadi, H. et al. 2021 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: Suppl 1 - volume: 46 - pages: 94-102.
Aubert Mucca, M. et al. 2021 Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome De novo missense variants in KCNH1 encoding Kv10.1 are responsible for two clinically recognisable phenotypes: Temple-Baraitser syndrome (TBS) and Zimmermann-Laband syndrome (ZLS). The clinical... J Med Genet - issue: - volume: - pages: jmedgenet-2020-107511.
Lo Barco, T. et al. 2021 SYNGAP1-DEE: A visual sensitive epilepsy. OBJECTIVE: To further delineate the electroclinical features of individuals with SYNGAP1 pathogenic variants. METHODS: Participants with pathogenic SYNGAP1 variants and available... Clin Neurophysiol - issue: 4 - volume: 132 - pages: 841-850.
Lo Barco, T. et al. 2021 SYNGAP1-DEE: A visual sensitive epilepsy OBJECTIVE: To further delineate the electroclinical features of individuals with SYNGAP1 pathogenic variants. METHODS: Participants with pathogenic SYNGAP1 variants and available... Clin Neurophysiol - issue: 4 - volume: 132 - pages: 841-850.
Salvi, A. et al. 2021 A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases STIM1, the stromal interaction molecule 1, is the key protein for maintaining calcium concentration in the endoplasmic reticulum by triggering the Store Operated Calcium Entry (SOCE). Bi-allelic... Clin Genet - issue: - volume: - pages: .
Ho, K. et al. 2021 Pituitary Neoplasm Nomenclature Workshop: Does Adenoma Stand the Test of Time? The WHO Classification of Endocrine Tumours designates pituitary neoplasms as adenomas. A proposed nomenclature change to pituitary neuroendocrine tumors (PitNETs) has been met with concern by some... J Endocr Soc - issue: 3 - volume: 5 - pages: bvaa205.
Hochman, C. et al. 2021 Pre-term birth in women exposed to Cushing's disease: the baby-cush study. DESIGN: Hypercortisolism during pregnancy is a risk factor for prematurity. Long-term exposure to hypercortisolism may lead to permanent comorbidities, such as hypertension or diabetes, even after... Eur J Endocrinol - issue: 3 - volume: 184 - pages: 469-476.
Reincke, M. et al. 2021 Corticotroph tumor progression after bilateral adrenalectomy (Nelson's syndrome): systematic review and expert consensus recommendations. BACKGROUND: Corticotroph tumor progression (CTP) leading to Nelson's syndrome (NS) is a severe and difficult-to-treat complication subsequent to bilateral adrenalectomy (BADX) for Cushing's disease.... Eur J Endocrinol - issue: 3 - volume: 184 - pages: P1-P16.
Whalen, S. et al. 2021 Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants The BCAP31 gene, located at Xq28, encodes BAP31, which plays a role in ER-to-Golgi anterograde transport. To date, BCAP31 pathogenic variants have been reported in 12 male cases from seven families... Eur J Hum Genet - issue: - volume: - pages: .
Matagne, V. et al. 2021 Severe offtarget effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second most prevalent genetic... Neurobiol Dis - issue: - volume: 149 - pages: 105235.
Castinetti, F. et al. 2021 The risks of medical treatment of prolactinoma. First-line treatment of prolactinoma is usually medical, based on dopamine agonists receptors, mainly cabergoline. The classical side-effects of cabergoline (low blood pressure and nausea) have been... Ann Endocrinol (Paris) - issue: 1 - volume: 82 - pages: 15-19.
Amodru, V. et al. 2021 Medical management of adrenocortical carcinoma: Current recommendations, new therapeutic options and future perspectives. Adrenocortical carcinoma is a rare malignant tumor of poor prognosis, frequently requiring additional treatments after initial surgery. Due to its adrenolytic action, mitotane has become the... Ann Endocrinol (Paris) - issue: 1 - volume: 82 - pages: 52-58.
Castinetti, F. et al. 2021 Positron Emission Tomography Imaging in Medullary Thyroid Carcinoma: Time for Reappraisal? Medullary thyroid carcinomas (MTC) are rare neoplasms derived from calcitonin-secreting cells of the thyroid. They can occur sporadically or as part of the multiple endocrine neoplasia type 2... Thyroid - issue: 2 - volume: 31 - pages: 151-155.