Nobuhiko Okamoto
A5006575385- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Congenital heart defects research
- RNA modifications and cancer
- Genetic Syndromes and Imprinting
- Epigenetics and DNA Methylation
- Protein Tyrosine Phosphatases
- Fetal and Pediatric Neurological Disorders
- Chromosomal and Genetic Variations
- Congenital Ear and Nasal Anomalies
- Galectins and Cancer Biology
- Prenatal Screening and Diagnostics
- Glycosylation and Glycoproteins Research
- Metabolism and Genetic Disorders
- RNA regulation and disease
- Connective tissue disorders research
- Hedgehog Signaling Pathway Studies
- RNA and protein synthesis mechanisms
- Chromatin Remodeling and Cancer
- Cellular transport and secretion
- Microtubule and mitosis dynamics
- Lysosomal Storage Disorders Research
- Tracheal and airway disorders
- Cancer-related gene regulation
Osaka Women's and Children's Hospital
2017-2025
Hakodate Central General Hospital
2021-2023
Daiichi Sankyo (United States)
2023
Osaka International Cancer Institute
2012-2022
University of Wisconsin–Madison
2022
City Hospital
2007-2020
Saitama Municipal Hospital
2009-2020
Nagoya City University
2017-2020
Osaka Shoin Women's University
2020
Hospices Civils de Lyon
2018
Background Kabuki syndrome (KS) is a clinically recognisable in which 70% of patients have pathogenic variant KMT2D or KDM6A . Understanding the function these genes opens door to targeted therapies. The purpose this report propose diagnostic criteria for KS, particularly when molecular genetic testing equivocal. Methods An international group experts created consensus KS. Systematic PubMed searches returned 70 peer-reviewed publications at least one individual with molecularly confirmed KS...
Highlights•Exome sequencing of Japanese ASD trios supports "de novo paradigm"•Integrative analyses were conducted by combining with published DNM data•Integrative confirm and extend ASD-related molecular brain networks•Integrative identify 61 significant genes as well drug candidatesSummaryRecent studies have established important roles de mutations (DNMs) in autism spectrum disorders (ASDs). Here, we analyze DNMs 262 probands origin the paradigm" ASDs across ethnicities. Based on this...
Kabuki syndrome (KS) is a rare congenital anomaly characterized by unique facial appearance, growth retardation, skeletal abnormalities, and intellectual disability. In 2010, MLL2 was identified as causative gene. On the basis of published reports, 55-80% KS cases can be explained abnormalities. Recently, de novo deletion KDM6A has been reported in three patients, but point mutations have never found. this study, we investigated 32 patients without an mutation. We two nonsense one 3-bp...
Abstract Kabuki syndrome is a congenital anomaly characterized by developmental delay, intellectual disability, specific facial features including long palpebral fissures and ectropion of the lateral third lower eyelids, prominent digit pads, skeletal visceral abnormalities. Mutations in MLL2 KDM6A cause syndrome. We screened 81 individuals with for mutations these genes conventional methods (n = 58) and/or targeted resequencing 45) or whole exome sequencing 5). identified mutation 50...
Coffin–Siris syndrome (CSS) is a rare congenital malformation syndrome, recently found to be caused by mutations in several genes encoding components of the BAF complex. To date, 109 patients have been reported with their mutations: SMARCB1 (12%), SMARCA4 (11%), SMARCE1 (2%), ARID1A (7%), ARID1B (65%), and PHF6 (2%). We review genotype‐phenotype correlation all previously , through reassessment clinical molecular findings. Cardinal features CSS included variable degrees intellectual...
Coffin-Siris syndrome (CSS) is a congenital disorder characterized by intellectual disability, growth deficiency, microcephaly, coarse facial features, and hypoplastic or absent fifth fingernails and/or toenails. We previously reported that five genes are mutated in CSS, all of which encode subunits the switch/sucrose non-fermenting (SWI/SNF) ATP-dependent chromatin-remodeling complex: SMARCB1, SMARCA4, SMARCE1, ARID1A, ARID1B. In this study, we examined 49 newly recruited CSS-suspected...
Background Physicians report high prevalence of depression, work long hours and are exposed to many occupational stresses (OSs). Aims To investigate the cross-sectional association between working hours, OS depression among physicians. Methods A self-administered questionnaire was mailed 1902 alumni a medical school. The evaluated in previous week, assessed by effort–reward imbalance model, social support Center for Epidemiologic Studies Depression scale. associations these factors were...
<h2>ABSTRACT</h2><h3>Purpose</h3> Pathogenic variants in ARID1B are one of the most frequent causes intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin–Siris patients (ARID1B-CSS) and it is unclear whether these data representative for identified through unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic phenotypic differences between ARID1B-ID ARID1B-CSS. In...
Weaver syndrome (WS) is a rare congenital overgrowth disorder caused by heterozygous mutations in EZH2 (enhancer of zeste homolog 2) or EED (embryonic ectoderm development). and are core components the polycomb repressive complex 2 (PRC2), which possesses histone methyltransferase activity catalyzes trimethylation H3 at lysine 27. Here, we analyzed eight probands with clinically suspected WS whole-exome sequencing identified three mutations: 25.4-kb deletion partially involving CUL1...
Sotos syndrome (SoS) is an autosomal dominant overgrowth with characteristic craniofacial dysmorphic features and various degrees of mental retardation. We previously showed that haploinsufficiency the NSD1 gene major cause SoS, submicroscopic deletions at 5q35, including NSD1, were found in about a half (20/42) our patients examined. Since first report, additional 70 SoS cases consisting 53 Japanese 17 non-Japanese have been analyzed. 50 microdeletions (45%) 16 point mutations (14%) among...
Noonan syndrome (NS) and related disorders are autosomal dominant characterized by heart defects, facial dysmorphism, ectodermal abnormalities, mental retardation. The dysregulation of the RAS/MAPK pathway appears to be a common molecular pathogenesis these disorders: mutations in PTPN11, KRAS, SOS1 have been identified patients with NS, those BRAF, MAP2K1, MAP2K2 CFC syndrome, HRAS Costello patients. Recently, RAF1 also NS two LEOPARD (multiple lentigines, electrocardiographic conduction...
Abstract Cardio‐facio‐cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation characterized by heart defects, distinctive facial appearance, ectodermal abnormalities and mental retardation. Clinically, it overlaps with both Noonan Costello syndrome, which are caused mutations in two genes, PTPN11 HRAS , respectively. Recently, we identified KRAS BRAF 19 of 43 individuals CFC suggesting that dysregulation the RAS/RAF/MEK/ERK pathway molecular basis for syndrome. The...