Mustafa Şahin
A5079691093- Tuberous Sclerosis Complex Research
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Polyomavirus and related diseases
- PI3K/AKT/mTOR signaling in cancer
- Genomics and Rare Diseases
- Tumors and Oncological Cases
- Neurogenetic and Muscular Disorders Research
- Cultural and Sociopolitical Studies
- Histiocytic Disorders and Treatments
- Hereditary Neurological Disorders
- Genomic variations and chromosomal abnormalities
- Epilepsy research and treatment
- Renal and related cancers
- Congenital heart defects research
- Fetal and Pediatric Neurological Disorders
- Genetic and Kidney Cyst Diseases
- Turkish Literature and Culture
- CRISPR and Genetic Engineering
- Neuroscience and Neuropharmacology Research
- RNA modifications and cancer
- Axon Guidance and Neuronal Signaling
- Linguistics and Cultural Studies
- Cellular transport and secretion
- Education Practices and Challenges
Boston Children's Hospital
2016-2025
Harvard University
2016-2025
Boston Children's Museum
2016-2025
Harvard University Press
2004-2025
Center for Pain and the Brain
2021-2025
Boston University
2010-2025
John Wiley & Sons (United States)
2019-2024
Hudson Institute
2019-2024
Selçuk University
2014-2024
Sağlık Bilimleri Üniversitesi
2022-2024
The failure of axons to regenerate is a major obstacle for functional recovery after central nervous system (CNS) injury. Removing extracellular inhibitory molecules results in limited axon regeneration vivo. To test the role intrinsic impediments regrowth, we analyzed cell growth control genes using virus-assisted vivo conditional knockout approach. Deletion PTEN (phosphatase and tensin homolog), negative regulator mammalian target rapamycin (mTOR) pathway, adult retinal ganglion cells...
BackgroundTuberous sclerosis complex is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the lifetime of an affected individual. Accurate diagnosis fundamental implementation appropriate medical surveillance treatment. Although significant advances have been made past 15 years understanding treatment tuberous complex, current diagnostic criteria not critically evaluated or updated since last consensus conference 1998.MethodsThe 2012...
Tuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals. The diverse and varied presentations progression can be life-threatening with significant impact on cost quality of life. Current surveillance management practices are highly variable region country, reflective the fact that last consensus recommendations occurred in 1998 an updated, comprehensive standard lacking incorporates latest...
Ataxia-telangiectasia mutated (ATM) is a cellular damage sensor that coordinates the cell cycle with damage-response checkpoints and DNA repair to preserve genomic integrity. However, ATM also has been implicated in metabolic regulation, deficiency associated elevated reactive oxygen species (ROS). ROS central role many physiological pathophysiological processes including inflammation chronic diseases such as atherosclerosis cancer, underscoring importance of pathways involved redox...
While prime editing enables precise sequence changes in DNA, cellular determinants of remain poorly understood. Using pooled CRISPRi screens, we discovered that DNA mismatch repair (MMR) impedes and promotes undesired indel byproducts. We developed PE4 PE5 systems which transient expression an engineered MMR-inhibiting protein enhances the efficiency substitution, small insertion, deletion edits by average 7.7-fold 2.0-fold compared to PE2 PE3 systems, respectively, while improving...
Tuberous sclerosis (TSC) is a hamartoma syndrome attributable to mutations in either TSC1 or TSC2 which brain involvement causes epilepsy, mental retardation, and autism. We have reported recently (Meikle et al., 2007) mouse neuronal model of TSC Tsc1 ablated most neurons during cortical development. tested rapamycin RAD001 [40- O -(2-hydroxyethyl)-rapamycin], both mammalian target mTORC1 inhibitors, as potential therapeutic agents this model. Median survival improved from 33 d more than 100...
Tuberous sclerosis (TSC) is a hamartoma syndrome caused by mutations in TSC1 or TSC2 which cerebral cortical tubers and seizures are major clinical issues. We have engineered mice most neurons lose Tsc1 expression during embryonic development. These mutant display several neurological abnormalities beginning at postnatal day 5 with subsequent failure to thrive median survival of 35 d. The also electrographic both spontaneously physical stimulation, some end fatal tonic phase. Many...
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease affecting multiple body systems with wide variability in presentation. In 2013, Pediatric Neurology published articles outlining updated diagnostic criteria and recommendations for surveillance management of manifestations. Advances knowledge approvals new therapies necessitated a revision those recommendations.Chairs working group cochairs from the 2012 International TSC Consensus Group were invited to meet...
Although there is increasing recognition of the role somatic mutations in genetic disorders, prevalence neurodevelopmental disease and optimal techniques to detect mosaicism have not been systematically evaluated.Using a customized panel known candidate genes associated with brain malformations, we applied targeted high-coverage sequencing (depth, ≥200×) leukocyte-derived DNA samples from 158 persons including double-cortex syndrome (subcortical band heterotopia, 30 persons), polymicrogyria...
Purpose: To explore the correlations between treatment modalities and selected disease parameters with outcome in febrile infection–related epilepsy syndrome (FIRES), a catastrophic epileptic encephalopathy yet undefined etiology. Methods: We conducted retrospective multicenter study on children who had been included eight studies published November 2001 July 2010. Additional data were retrieved from six of participating centers. Key Findings: The 77 enrolled patients presented prolonged...
Tuberous sclerosis complex (TSC) is an autosomal dominant tumor suppressor gene syndrome due to germline mutations in either TSC1 or TSC2. 10–15% of TSC individuals have no mutation identified (NMI) after thorough conventional molecular diagnostic assessment. 53 subjects who were NMI studied using next generation sequencing search for these genes. Blood/saliva DNA including parental samples available from all subjects, and skin biopsy was six subjects. We 45 (85%). Mosaicism observed the...