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.
Jullien, N. et al. 2021 Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort. CONTEXT: The international GENHYPOPIT network collects phenotypical data and screens genetic causes of non-acquired hypopituitarism. AIMS: To describe main phenotype patterns and their evolution... Clin Endocrinol (Oxf) - issue: 2 - volume: 94 - pages: 277-289.
Salgues, B. et al. 2021 Risk stratification of adrenal masses by [(18) F]FDG PET/CT: Changing tactics. CONTEXT: [(18) F]FDG PET/CT improves adrenal tumour characterization. However, there is still no consensus regarding the optimal imaging biomarkers of malignancy. OBJECTIVES: To assess the... Clin Endocrinol (Oxf) - issue: 2 - volume: 94 - pages: 133-140.
Buisset, C. et al. 2021 Pheochromocytoma surgery without systematic preoperative pharmacological preparation: insights from a referral tertiary center experience. BACKGROUND: Despite significant advances in imaging and genetics, as well as surgical and anesthetic innovations, morbidity in pheochromocytoma surgery remains significant. The aim of this study was... Surg Endosc - issue: 2 - volume: 35 - pages: 728-735.
Guénantin, A. et al. 2021 Targeting the histone demethylase LSD1 prevents cardiomyopathy in a mouse model of laminopathy LMNA mutations in patients are responsible for a dilated cardiomyopathy. Molecular mechanisms underlying the origin and development of the pathology are unknown. Herein, using mouse pluripotent... J Clin Invest - issue: 1 - volume: 131 - pages: 136488.
André, M. et al. 2021 The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review. We describe the clinical, electroencephalography (EEG), and developmental features of a patient with developmental and epileptic encephalopathy due to a homozygous pathogenic variation of... Arch Pediatr - issue: 1 - volume: 28 - pages: 87-92.
André, M. et al. 2021 The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review We describe the clinical, electroencephalography (EEG), and developmental features of a patient with developmental and epileptic encephalopathy due to a homozygous pathogenic variation of... Arch Pediatr - issue: 1 - volume: 28 - pages: 87-92.
Kuhn, E. et al. 2021 Correction to: Pegvisomant in combination or pegvisomant alone after failure of somatostatin analogs in acromegaly patients: an observational French ACROSTUDY cohort study. Endocrine - issue: 1 - volume: 71 - pages: 265.
Gerard, C. et al. 2021 Kinome rewiring during acquired drug resistance in neuroendocrine neoplasms. Although there is evidence of a significant rise of neuroendocrine neoplasms (NENs) incidence, current treatments are largely insufficient due to somewhat poor knowledge of these tumours. Despite... Endocr Relat Cancer - issue: 1 - volume: 28 - pages: 39-51.
Illouz, F. et al. 2021 Somatostatin receptor ligands induce TSH deficiency in thyrotropin-secreting pituitary adenoma. OBJECTIVE: Somatostatin receptor ligands (SRL) are useful to control central hyperthyroidism in patients with thyrotropin-secreting pituitary adenoma (TSH pituitary adenoma). The aim of this study... Eur J Endocrinol - issue: 1 - volume: 184 - pages: 1-8.
Kuhn, E. et al. 2021 Pegvisomant in combination or pegvisomant alone after failure of somatostatin analogs in acromegaly patients: an observational French ACROSTUDY cohort study. OBJECTIVE: After surgery, when somatostatin analogs (SAs) do not normalise IGF-I, pegvisomant (PEG) is indicated. Our aim was to define the medical reasons for the treatment of patients with PEG as... Endocrine - issue: 1 - volume: 71 - pages: 158-167.
Faure, E. et al. 2021 Side-dependent effect in the response of valve endothelial cells to bidirectional shear stress Endothelial cells covering the aortic and ventricular sides of the aortic valve leaflets are exposed to different stresses, in particular wall shear stress (WSS). Biomechanical stimuli actively... Int J Cardiol - issue: - volume: 323 - pages: 220-228.