Katsuhito Yasuno
A5011301808- Glioma Diagnosis and Treatment
- Chromatin Remodeling and Cancer
- Meningioma and schwannoma management
- RNA modifications and cancer
- Moyamoya disease diagnosis and treatment
- Cancer Genomics and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Ferroptosis and cancer prognosis
- Hedgehog Signaling Pathway Studies
- Neurofibromatosis and Schwannoma Cases
- Microtubule and mitosis dynamics
- RNA Research and Splicing
- Congenital heart defects research
- Genetic Neurodegenerative Diseases
- Ubiquitin and proteasome pathways
- Mast cells and histamine
- Black Holes and Theoretical Physics
- Head and Neck Surgical Oncology
- Mitochondrial Function and Pathology
- Cellular transport and secretion
- Cardiomyopathy and Myosin Studies
- Tumors and Oncological Cases
- Neurological diseases and metabolism
- RNA regulation and disease
- Peptidase Inhibition and Analysis
Yale University
2011-2025
Pediatrics and Genetics
2020
Yale Cancer Center
2014-2017
Selçuk University
2015
Acıbadem University
2015
Memorial Sloan Kettering Cancer Center
2015
Center for Human Genetics
2011
Institute of Neurobiology
2011
Tokai University
2006-2010
Japan Biological Informatics Consortium
2005
Genetic Clues to Meningioma Meningiomas are the most common primary brain tumors in adults. Located within layer of tissue covering brain, these usually slow-growing and benign but can cause serious neurological complications. About half have mutations neurofibromin 2 gene ( NF2 ). To identify other genes that contribute meningioma pathogenesis, Clark et al. (p. 1077 , published online 24 January) performed genome sequence analysis on 300 tumors. fell into two general classes: located at...
Tourette's syndrome is a common developmental neuropsychiatric disorder characterized by chronic motor and vocal tics. Despite strong genetic contribution, inheritance complex, risk alleles have proven difficult to identify. Here, we describe an analysis of linkage in two-generation pedigree leading the identification rare functional mutation HDC gene encoding L-histidine decarboxylase, rate-limiting enzyme histamine biosynthesis. Our findings, together with previously published data from...
Neurodegenerative diseases can occur so early as to affect neurodevelopment. From a cohort of more than 2,000 consanguineous families with childhood neurological disease, we identified founder mutation in four independent pedigrees cleavage and polyadenylation factor I subunit 1 (CLP1). CLP1 is multifunctional kinase implicated tRNA, mRNA, siRNA maturation. Kinase activity the mutant protein was defective, tRNA endonuclease complex (TSEN) destabilized, resulting impaired pre-tRNA cleavage....
Abstract Meningiomas are mostly benign brain tumours, with a potential for becoming atypical or malignant. On the basis of comprehensive genomic, transcriptomic and epigenomic analyses, we compared meningiomas to ones. Here, show that majority primary ( de novo ) display loss NF2 , which co-occurs either genomic instability recurrent SMARCB1 mutations. These tumours harbour increased H3K27me3 signal hypermethylated phenotype, mainly occupying polycomb repressive complex 2 (PRC2) binding...
Malignant high-grade gliomas (HGGs), including the most aggressive form, glioblastoma multiforme, show significant clinical and genomic heterogeneity. Despite recent advances, overall survival of HGGs their response to treatment remain poor. In order gain further insight into disease pathophysiology by correlating landscape with behavior, thereby identifying distinct HGG molecular subgroups associated improved prognosis, we performed a comprehensive analysis. We analyzed compared 720...
The pathogenesis of intracranial aneurysm (IA) formation and rupture is complex, with significant contribution from genetic factors. We previously reported genome-wide association studies based on European discovery Japanese replication cohorts 5,891 cases 14,181 controls that identified five disease-related loci. These were testing genomic regions contained SNPs posterior probability (PPA) greater than 0.5 in the cohort. To identify additional IA risk loci, we pursued 14 loci PPAs cohort...
As subsets of pheochromocytomas (PCCs) lack a defined molecular etiology, we sought to characterize the mutational landscape PCCs identify novel gene candidates involved in disease development. A discovery cohort 15 wild type for mutations PCC susceptibility genes underwent whole‐exome sequencing, and an additional 83 served as verification targeted sequencing candidate mutations. low rate nonsilent single nucleotide variants (SNVs) was detected (6.1/sample). Somatic HRAS EPAS1 were observed...
Cerebral cortex development in humans is a highly complex and orchestrated process that under tight genetic regulation. Rare mutations alter gene expression or function can disrupt the structure of cerebral cortex, resulting range neurological conditions1. Lissencephaly ('smooth brain') spectrum disorders comprise group rare, genetically heterogeneous congenital brain malformations commonly associated with epilepsy intellectual disability2. However, molecular mechanisms underlying disease...
Abstract Hedgehog signaling mediates embryologic development of the central nervous system and other tissues is frequently hijacked by neoplasia to facilitate uncontrolled cellular proliferation. Meningiomas, most common primary brain tumor, exhibit activation in 6.5% cases, triggered recurrent mutations pathway mediators such as SMO . In this study, we find 35.6% meningiomas that lack previously known drivers acquired various types somatic structural variations affecting chromosomes 2q35...