Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?
CONCLUSIONS: Preventing epilepsy or improving therapy for seizures associated with prompt and tailored treatment strategies for autism in a sensitive developmental time window could have the potential to mitigate autistic symptoms in infants with TSC.PMID:37878130 | DOI:10.1007/s12519-023-00762-2 (Source: World Journal of Pediatrics : WJP)
Source: World Journal of Pediatrics : WJP - October 25, 2023 Category: Pediatrics Authors: Paolo Curatolo Mirte Scheper Leonardo Emberti Gialloreti Nicola Specchio Eleonora Aronica Source Type: research
Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?
CONCLUSIONS: Preventing epilepsy or improving therapy for seizures associated with prompt and tailored treatment strategies for autism in a sensitive developmental time window could have the potential to mitigate autistic symptoms in infants with TSC.PMID:37878130 | DOI:10.1007/s12519-023-00762-2 (Source: World Journal of Pediatrics : WJP)
Source: World Journal of Pediatrics : WJP - October 25, 2023 Category: Pediatrics Authors: Paolo Curatolo Mirte Scheper Leonardo Emberti Gialloreti Nicola Specchio Eleonora Aronica Source Type: research
Translatome analysis of tuberous sclerosis complex 1 patient-derived neural progenitor cells reveals rapamycin-dependent and independent alterations
ConclusionsOur work reveals ample mRNA translation alterations in TSC1 patient-derived NPCs that recapitulate mRNA translation in ASD brain samples. Further, suppression of TSC1-associated but rapamycin-insensitive translation and ND phenotypes by RMC-6272 unveils potential implications for more efficient targeting of mTORC1 as a superior treatment strategy for TAND. (Source: Molecular Autism)
Source: Molecular Autism - October 25, 2023 Category: Molecular Biology Source Type: research
Retrospective pharmacogenetic study in a cohort of pediatric tuberous sclerosis complex patients using everolimus
Pharmacogenomics, Ahead of Print. (Source: Future Medicine: Pharmacogenomics)
Source: Future Medicine: Pharmacogenomics - October 23, 2023 Category: Genetics & Stem Cells Authors: Julia Concha Estela Sang üesa Jose Luis Pe ña Mar ía Pilar Ribate Cristina Bel én García Source Type: research
Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM
(Source: BMC Medicine)
Source: BMC Medicine - October 23, 2023 Category: Internal Medicine Authors: Annelieke R. M üller, Michiel A. J. Luijten, Lotte Haverman, Wendela L. de Ranitz-Greven, Peter Janssens, André B. Rietman, Leontine W.ten Hoopen, Laura C. G. de Graaff, Marie-Claire de Wit, Anna C. Jansen, Tanjala Gipson, Jamie K. Capal, Petrus J. de V Tags: Correction Source Type: research
Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis
Tuberous sclerosis complex (TSC) is a multisystem, highly penetrant dominant genetic disorder with an estimated prevalence of 1 in 6,000 to 10,000 live births.1,2,3 It is characterized by benign hamartomas in brain, skin, kidney, heart, eye, and lung. Epilepsy, intellectual disability, and autism spectrum disorder are the most frequent neurological and neuropsychiatric features.1,2 (Source: Pediatric Neurology)
Source: Pediatric Neurology - October 21, 2023 Category: Neurology Authors: Zimeng Ye, Sufang Lin, Xia Zhao, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Jing Duan, Yi Yao, Lin Li, Li Chen, Dezhi Cao, Zhanqi Hu, Victor W. Zhang, Samuel F. Berkovic, Ingrid E. Scheffer, Jianxiang Liao, Michael S. Hildebrand Tags: Short Communication Source Type: research
How early is too early ? Diagnosis of tuberous sclerosis complex in a neonate
RR Prashanth, S Nair, A Haribalakrishna, H ThakkarJournal of Postgraduate Medicine 2023 69(4):243-244 (Source: Journal of Postgraduate Medicine)
Source: Journal of Postgraduate Medicine - October 19, 2023 Category: Internal Medicine Authors: RR Prashanth S Nair A Haribalakrishna H Thakkar Source Type: research
GSE229552 Tsc2 coordinates differentiation [bulkRNA-seq]
Contributor : D M FelicianoSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusMultipotent neural stem cells (NSCs) that reside within the ventricular-subventricular zone (V-SVZ) of the brain generate a variety of cell types. Here we provide transcriptomes of NSCs that have lost Tsc2 as occurs in the neurodevelopmental disorder Tuberous Sclerosis Complex (TSC). (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - October 16, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
GSE229549 Tsc2 coordinates differentiation [scRNA-seq]
Contributors : D M Feliciano ; Vijay Shankar ; Trudy F MackaySeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusMultipotent neural stem cells (NSCs) that reside within the ventricular-subventricular zone (V-SVZ) of the brain generate a variety of cell types. Here we provide transcriptomes of cells that have lost Tsc2 as occurs in the neurodevelopmental disorder Tuberous Sclerosis Complex (TSC). (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - October 16, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
GSE229276 Tsc2 coordinates differentiation
Contributor : D M FelicianoSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusMultipotent neural stem cells (NSCs) that reside within the ventricular-subventricular zone (V-SVZ) of the brain generate a variety of cell types. Here we provide transcriptomes of NSCs that have lost Tsc2 as occurs in the neurodevelopmental disorder Tuberous Sclerosis Complex (TSC). (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - October 16, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
A survey of patients with facial angiofibromas associated with tuberous sclerosis complex: Short-, medium- and long-term efficacy and safety of topical rapamycin
CONCLUSION: This survey supports the safety and efficacy of topical rapamycin in the short-, medium- and long-term in the treatment of facial angiofibromas in a cohort of 79 patients with TSC.PMID:37821253 | DOI:10.1016/j.annder.2023.06.009 (Source: Annales de Dermatologie et de Venereologie)
Source: Annales de Dermatologie et de Venereologie - October 11, 2023 Category: Dermatology Authors: N Sigg J Fouquet D Morin D Farges S Vrignaud L Martin Source Type: research
A survey of patients with facial angiofibromas associated with tuberous sclerosis complex: Short-, medium- and long-term efficacy and safety of topical rapamycin
CONCLUSION: This survey supports the safety and efficacy of topical rapamycin in the short-, medium- and long-term in the treatment of facial angiofibromas in a cohort of 79 patients with TSC.PMID:37821253 | DOI:10.1016/j.annder.2023.06.009 (Source: Annales de Dermatologie et de Cenereologie)
Source: Annales de Dermatologie et de Cenereologie - October 11, 2023 Category: Dermatology Authors: N Sigg J Fouquet D Morin D Farges S Vrignaud L Martin Source Type: research
A survey of patients with facial angiofibromas associated with tuberous sclerosis complex: Short-, medium- and long-term efficacy and safety of topical rapamycin
CONCLUSION: This survey supports the safety and efficacy of topical rapamycin in the short-, medium- and long-term in the treatment of facial angiofibromas in a cohort of 79 patients with TSC.PMID:37821253 | DOI:10.1016/j.annder.2023.06.009 (Source: Annales de Dermatologie et de Venereologie)
Source: Annales de Dermatologie et de Venereologie - October 11, 2023 Category: Dermatology Authors: N Sigg J Fouquet D Morin D Farges S Vrignaud L Martin Source Type: research
A survey of patients with facial angiofibromas associated with tuberous sclerosis complex: Short-, medium- and long-term efficacy and safety of topical rapamycin
CONCLUSION: This survey supports the safety and efficacy of topical rapamycin in the short-, medium- and long-term in the treatment of facial angiofibromas in a cohort of 79 patients with TSC.PMID:37821253 | DOI:10.1016/j.annder.2023.06.009 (Source: Annales de Dermatologie et de Cenereologie)
Source: Annales de Dermatologie et de Cenereologie - October 11, 2023 Category: Dermatology Authors: N Sigg J Fouquet D Morin D Farges S Vrignaud L Martin Source Type: research
A survey of patients with facial angiofibromas associated with tuberous sclerosis complex: Short-, medium- and long-term efficacy and safety of topical rapamycin
CONCLUSION: This survey supports the safety and efficacy of topical rapamycin in the short-, medium- and long-term in the treatment of facial angiofibromas in a cohort of 79 patients with TSC.PMID:37821253 | DOI:10.1016/j.annder.2023.06.009 (Source: Annales de Dermatologie et de Venereologie)
Source: Annales de Dermatologie et de Venereologie - October 11, 2023 Category: Dermatology Authors: N Sigg J Fouquet D Morin D Farges S Vrignaud L Martin Source Type: research
