Results 71 to 80 of about 25,279 (224)

Gene mutations in sporadic lymphangioleiomyomatosis and genotype–phenotype correlation analysis

BMC Pulmonary Medicine, 2022
Background Sporadic lymphangioleiomyomatosis (S-LAM) is a rare neoplasm with heterogeneous clinical features that is conventionally considered to be related to TSC2.
Jiannan Huang, Wenshuai Xu, Peng Liu, Yaping Liu, Cheng Shen, Song Liu, Yani Wang, Jun Wang, Tengyue Zhang, Yudi He, Chongsheng Cheng, Luning Yang, Weihong Zhang, Xinlun Tian, Kai-Feng Xu   +14 more
doaj   +1 more source

Deep developmental phenotyping in children with tuberous sclerosis complex, with and without autism

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16312 Abstract Aim To characterize autism and co‐occurring tuberous sclerosis‐associated neuropsychiatric disorders (TAND) in children with tuberous sclerosis complex (TSC), addressing evidence gaps by using deep developmental phenotyping in a single cohort.
Rebecca A. Mitchell, Francesca Lami, Sarah M. Barton, A. Simon Harvey, Katrina Williams   +4 more
wiley   +1 more source

Renal organoid modeling of tuberous sclerosis complex reveals lesion features arise from diverse developmental processes

Cell Reports, 2022
Summary: Tuberous sclerosis complex (TSC) is a multisystem tumor-forming disorder caused by loss of TSC1 or TSC2. Renal manifestations predominately include cysts and angiomyolipomas. Despite a well-described monogenic etiology, the cellular pathogenesis
Adam Pietrobon, Julien Yockell-Lelièvre, Trevor A. Flood, William L. Stanford   +3 more
doaj  

Integrative multi-omics analysis identifies a prognostic miRNA signature and a targetable miR-21-3p/TSC2/mTOR axis in metastatic pheochromocytoma/paraganglioma

Theranostics, 2019
Rationale: Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors that present variable outcomes. To date, no effective therapies or reliable prognostic markers are available for patients who develop metastatic PPGL (mPPGL).
Bruna Calsina, Luis J. Castro-Vega, R. Torres-Pérez, L. Inglada-Perez, M. Currás-Freixes, J. M. Roldan-Romero, V. Mančíková, R. Letón, Laura Remacha, María Santos, N. Burnichon, Charlotte Lussey-Lepoutre, E. Rapizzi, O. Graña, C. Alvarez-Escola, Aguirre A. de Cubas, Javier Lanillos, A. Cordero-Barreal, Á. Martínez-Montes, Alexandre Bellucci, L. Amar, F. Fernandes-Rosa, M. Calatayud, J. Aller, C. Lamas, J. Sastre-Marcos, L. Canu, E. Korpershoek, H. Timmers, J. Lenders, F. Beuschlein, Martin Fassnacht-Capeller, G. Eisenhofer, M. Mannelli, F. Al-Shahrour, J. Favier, C. Rodríguez‐Antona, A. Cascón, C. Montero‐Conde, A. Gimenez-Roqueplo, M. Robledo   +40 more
semanticscholar   +1 more source

Medication‐resistant epilepsy is associated with a unique gut microbiota signature

Epilepsia, Volume 66, Issue 7, Page 2268-2284, July 2025.
Abstract Objective Dysfunction of the microbiota–gut–brain axis is emerging as a new pathogenic mechanism in epilepsy, potentially impacting on medication response and disease outcome. We investigated the composition of the gut microbiota in a cohort of medication‐resistant (MR) and medication‐sensitive (MS) pediatric patients with epilepsy.
Antonella Riva, Eray Sahin, Greta Volpedo, Noemi Teresa Catania, Isabel Venara, Valentina Biagioli, Ganna Balagura, Elisabetta Amadori, Carmen De Caro, Emanuele Cerulli Irelli, Carlo Di Bonaventura, Federico Zara, Osman Ugur Sezerman, Emilio Russo, Pasquale Striano   +14 more
wiley   +1 more source

A novel role of snail in regulating tuberin/AMPK pathways to promote renal fibrosis in the new mouse model of type II diabetes

FASEB BioAdvances, 2021
Epithelial–mesenchymal transition (EMT) plays an important role in tissue fibrosis following chronic exposure to hyperglycemia. This study investigates the role of chronic diabetes in regulating tuberin/snail/AMPK to enhance EMT and increase renal ...
Sitai Liang, Mukesh Yadav, Kristine S. Vogel, Samy L. Habib   +3 more
doaj   +1 more source

Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real‐world study

Epilepsia, Volume 66, Issue 7, Page 2253-2267, July 2025.
Abstract Objective This real‐world, retrospective, multicenter study aims to investigate the effectiveness of highly purified cannabidiol (CBD) in a large cohort of patients with epilepsy of genetic etiology due to an identified monogenic cause. Additionally, we examine the potential relationship between specific genetic subgroups and treatment ...
Emanuele Cerulli Irelli, Adolfo Mazzeo, Roberto H. Caraballo, Marco Perulli, Patrick B. Moloney, Javier Peña‐Ceballos, Marica Rubino, Katarzyna M. Mieszczanek, Andrea Santangelo, Laura Licchetta, Valentina De Giorgis, Gabriela Reyes Valenzuela, Susanna Casellato, Elisabetta Cesaroni, Francesca F. Operto, Jana Domínguez‐Carral, Alia Ramírez‐Camacho, Alessandro Ferretti, Giuseppe Santangelo, Angel Aledo‐Serrano, Andrea Rüegger, Maria M. Mancardi, Giulia Prato, Antonella Riva, Luca Bergonzini, Duccio M. Cordelli, Paolo Bonanni, Francesca Bisulli, Giancarlo Di Gennaro, Sara Matricardi, Pasquale Striano, Norman Delanty, Carla Marini, Domenica Battaglia, Carlo Di Bonaventura, Georgia Ramantani, Elena Gardella, GENE‐CBD Study Group, Alessandro Orsini, Antonietta Coppola, Alessandra Morano, Nicola Simeone, Claudia Cuccurullo, Massimo Scacciati, Alice Bonuccelli, Maddalena Bianchetti, Alberto Verrotti, Marta Piccioli, Massimiliano Celario, Elena Tartara, Giulia Balletto, Chiara Bagliani, Beatriz Gonzalez Giraldez, Pasquale Parisi, Carmen Salluce, Emanuele Bartolini, Maria Del Carmen Fons‐Estupiña, Federico Ramos, Alberto Danieli, Alessandra Rossi, Elisabetta Pantaloni, Ana Laura Fernandez‐Perrone, Giorgio Magli, Ilaria Onida, Giulia Bruschi, Lorenzo Muccioli, Tomasz S. Mieszczanek, Trine Hammer, Francesca Furia   +68 more
wiley   +1 more source

Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex

BMC Medical Genetics, 2008
Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues.
Dommering Charlotte, Baars Marieke, Maat-Kievit Anneke, Wessels Marja, Adriaans Alwin, Goedbloed Miriam, Sancak Őzgür, Nellist Mark, van den Ouweland Ans, Halley Dicky   +9 more
doaj   +1 more source

Novel Pathogenic Variant in Exon 31 of the TSC2 Gene Associated With a Severe Phenotype of Tuberous Sclerosis

Annals of the Child Neurology Society, EarlyView.
Tabitha D'souza, Laura Davids, Prabhumallikarjun Patil   +2 more
wiley   +1 more source

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals

Epilepsia, EarlyView.
Abstract Objective A large proportion of pediatric epilepsies have an underlying genetic etiology. Limited studies have explored the efficacy of whole genome sequencing (WGS) in a clinical setting. Our academic–clinical center implemented clinical whole exome sequencing (WES) in 2014, then transitioned to WGS from 2015.
Olivia J. Henry, Sofia Ygberg, Michela Barbaro, Nicole Lesko, Leif Karlsson, Lucía Peña‐Pérez, Ann Båvner, Virpi Töhönen, Anna Lindstrand, Tommy Stödberg, Anna Wedell   +10 more
wiley   +1 more source