Boukerrouni, A. et al. 2023 Genetic testing in prolactinomas: a cohort study BACKGROUND: Prolactinomas represent 46%-66% of pituitary adenomas, but the prevalence of germline mutations is largely unknown. We present here the first study focusing on hereditary predisposition to... Eur J Endocrinol - issue: 6 - volume: 189 - pages: 567-574.
Caron, L. et al. 2023 Induced Pluripotent Stem Cells for Modeling Physiological and Pathological Striated Muscle Complexity Neuromuscular disorders (NMDs) are a large group of diseases associated with either alterations of skeletal muscle fibers, motor neurons or neuromuscular junctions. Most of these diseases is... J Neuromuscul Dis - issue: 5 - volume: 10 - pages: 761-776..
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.
Abaji, M. et al. 2023 TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype. The TRAPP (TRAfficking Protein Particle) complexes are evolutionarily conserved tethering factors involved in the intracellular transport of vesicles for secretion and autophagy processes. Pathogenic... J Med Genet - issue: 10 - volume: 60 - pages: 1021-1025.
Engel, C. et al. 2023 BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures... Eur J Hum Genet - issue: 9 - volume: 31 - pages: 1023-1031.
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.
Laberthonnière, C. et al. 2023 In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype. Many genetic syndromes are linked to mutations in genes encoding factors that guide chromatin organization. Among them, several distinct rare genetic diseases are linked to mutations in SMCHD1 that... Nucleic Acids Res - issue: 14 - volume: 51 - pages: 7269-7287.
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: .
Legrand, M. et al. 2023 SSTR2A is a diagnostic marker of trichogerminoma J Eur Acad Dermatol Venereol - issue: - volume: - pages: .
Lutaud, R. et al. 2023 Motivational interviewing for the management of child and adolescent obesity: a systematic literature review BACKGROUND: Among children or adolescents suffering from obesity, 40-70,5% will remain obese as adults according to their paediatric BMI. The recommended management involves changes in their... BJGP Open - issue: - volume: - pages: BJGPO.2022.0145.
Brun, L. et al. 2023 Ultrasound-induced seizures in a mouse model of KCNQ2-NEO-DEE. PURPOSE: KCNQ2 neonatal developmental and epileptic encephalopathy (NEO-DEE) is characterized by intractable seizures accompanied by an abnormal neurodevelopment. In a mouse model of NEO-DEE carrying... Epilepsy Res - issue: - volume: 193 - pages: 107160.