A5014343297- Genomic variations and chromosomal abnormalities
- Monoclonal and Polyclonal Antibodies Research
- Prenatal Screening and Diagnostics
- Liver Disease Diagnosis and Treatment
- Genetic Syndromes and Imprinting
- Melanoma and MAPK Pathways
- Lymphoma Diagnosis and Treatment
- Metabolism and Genetic Disorders
- Chronic Lymphocytic Leukemia Research
- Chromosomal and Genetic Variations
- Corneal surgery and disorders
- Computational Drug Discovery Methods
- HER2/EGFR in Cancer Research
- Congenital heart defects research
- Immune Cell Function and Interaction
- Gallbladder and Bile Duct Disorders
- Synthesis and biological activity
- Immunodeficiency and Autoimmune Disorders
- Liver Disease and Transplantation
- Pediatric Hepatobiliary Diseases and Treatments
- Connective tissue disorders research
- Acute Myeloid Leukemia Research
- Gastrointestinal disorders and treatments
- Congenital Ear and Nasal Anomalies
- Biliary and Gastrointestinal Fistulas
Uji Hospital
2025
Osaka University
2001-2024
The University of Tokyo
2022-2024
Kyoto University
2020-2023
Niigata University
2022
Chugai Pharma (United States)
1992-2021
Sanden (Japan)
2021
Creative Commons
2021
Osaka Prefecture University
2021
Shiga University of Medical Science
2021
Tumors with mutant RAS are often dependent on extracellular signal-regulated kinase (ERK) signaling for growth; however, MEK inhibitors have only marginal antitumor activity in these tumors. relieve ERK-dependent feedback inhibition of RAF and cause induction phosphorylation. We now identified a inhibitor, CH5126766 (RO5126766), that has the unique property inhibiting as well. binding causes to adopt conformation which it cannot be phosphorylated by released from RAF. This results formation...
RNA therapeutics are of global interest because their versatility in targeting a variety intracellular and extracellular biomolecules. In that context, long double-stranded (dsRNA) has been studied as an antitumor agent activates the immune response. However, its performance is constrained by poor cancer selectivity cell-penetration ability. Here, we designed synthesized oncolytic hairpin pair (oHP) was selectively cytotoxic toward cells expressing abundant oncogenic microRNA-21 (miR-21)....
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...
Cloning a cDNA for human IgGFc binding protein (FcγBP) from colonic epithelial cells reveals an mRNA and coding region of 17 16.2 kilobases, respectively. The predicted amino acid sequence contains 12 occurrences 400-amino cysteine-rich unit resembling that found in mucin. A motif (CGLCGN) FcγBP is conserved MUC2 prepro-von Willebrand factor. N-terminal 450-amino sequences are necessary sufficient to confer IgG Fc activity. expressed only placenta cells. These results suggest may play...
Serological expression cloning of antigens eliciting a humoral immune response to syngeneic mouse sarcoma identified pem (mouse placenta and embryonic gene) as new member the cancer/testis family. To identify human homologue , sequences -related expressed sequence tags from testis were used PCR primers for amplification using cDNA. However, rather than another gene, designated OY-TES-1 was isolated found be proacrosin binding protein sp32 precursor originally in mouse, guinea pig, pig. maps...
<b>Background and aims:</b> Mucus released from goblet cells is important in intestinal mucosal defence, mucin glycoproteins are thought to be major components of mucus. Recently, we identified cloned another component human colonic mucus, IgG Fc binding protein (FcγBP). FcγBP immunologically distinct known Fcγ receptors its structure contains repeated cysteine rich unit sequences resembling those present mucins. In this work, assessed the tissue distribution FcγBP, activity various body...
Abstract A rat mAb (NIM-R5) has recently been prepared against a novel murine B cell activation marker. We report here isolation of cDNA (1-19) encoding the cell-derived protein recognized by NIM-R5 antibody. This contains an open reading frame that encodes polypeptide 304 amino acids with predicted molecular weight 34,500. The existence 22-amino acid hydrophobic region located 23 from terminal deduced protein, together four potential N-linked glycosylation sites, characterize encoded I-19...
Human herpes virus (HHV)6-associated limbic encephalitis and/or myelitis is one of the life-threatening central nervous system complications following allogeneic hematopoietic stem cell transplantation (HSCT). Recent reports have shown significant correlations these with unrelated cord blood (UCBT). We retrospectively analyzed 228 HSCT recipients in our single institution; 13 patients (5.7%) were diagnosed HHV6-associated encephalitis/myelitis. This complication was documented 8 51 UCBT...
Virus-associated hemorrhagic cystitis (HC) is a major cause of morbidity and mortality following allogeneic hematopoietic stem cell transplantation (HSCT). Although numerous studies have attempted to identify factors that predispose patients viral HC, its causes remain controversial. We analyzed retrospectively the results 266 HSCTs associated with HC. Of this group, 42 (15.8%) were diagnosed because either adenovirus (ADV; n = 26; 9.8%) or BK virus (BKV; 16; 6.0%). ADV-HC was frequently T...
Abstract We report on a child with Waardenburg syndrome type I and paracentric inversion of chromosome 2. This 20‐month‐old boy has dystopia canthorum, sensorineural deafness, heterochromia iridis, partially albinotic ocular fundi, partial leukodermia. He does not have mental retardation or any skeletal abnormalities. Family history was unremarkable. Cytogenetic studies demonstrated that the patient (2)(q35q37.3); his parents normal chromosomes. These findings suggest locus gene for may be...
Abstract Deletion and RFLP studies with 5 cloned DNA markers localized at 15q11.2 were performed in 50 patients the Prader–Willi syndrome (PWS). A one‐copy density (deletion) for least one of 4 loci, D15S9, D15S11, D15S10, D15S12 , was detected 32 (64%) patients; deletions each loci found 29, 30, 28 patients, respectively. Three showed or more copy locus, addition to deletions. The remaining 18 two‐copy densities loci. common site rearrangements among our as well reported seemed be confined...
Abstract In order to evaluate the contribution of FBN1, FBN2, TGFBR1 , and TGFBR2 mutations Marfan syndrome (MFS) phenotype, four genes were analyzed by direct sequencing in 49 patients with MFS or suspected as a cohort study. A total 27 FBN1 (22 novel) (55%, 27/49), 1 novel mutation (2%, 1/49), 2 recurrent (4%, 2/49) identified. No FBN2 was found. Three either abnormality did not fulfill Ghent criteria, but expressed some overlapping features Loeys–Dietz (LDS). remaining 19 patients, show...
Abstract A 36‐week‐old fetus was referred to the medical center because of his cystic mass and fluid in left thoracic cavity, delivered by cesarean section manage neonatal problems at 37 weeks gestation. Emergent surgical repair diaphragmatic hernia performed, but severe hypoxia persisted, he expired on following day. Chromosome analysis cultured amniotic cells indicated 46,XY,del(8)(p23.1p23.1). This is fourth case 8p23.1 deletion associated with hernia. Microarray comparative genomic...
Abstract Array using 2,173 BAC clones covering the whole human genome has been constructed. All spotted were confirmed to show a unique signal at predicted chromosomal location by FISH analysis in our laboratory. A total of 30 individuals with idiopathic mental retardation (MR) analyzed comparative genomic hybridization this array. Three deletions, one duplication, and unbalanced translocation could be detected five patients, which are likely contribute MR. The constructed array was shown an...
Abstract We analyzed five patients with inverted duplication deletion of 8p [inv dup del(8p)] using fluorescence in situ hybridization (FISH) and short tandem repeat polymorphism (STRP) analysis. In all patients, inv del(8p) consisted a deleted distal segment, an intact in‐between duplicated proximal segment. them, the breakpoint one breakpoints were identical, each located at two olfactory receptor gene clusters 8p23. FISH analysis showed their mothers to be heterozygous carriers 8p23...
Abstract Array comparative genomic hybridization (array CGH) analysis was conducted in chorionic villous samples from 20 first‐trimester spontaneous abortions with G‐banding normal chromosomes. A microarray, containing 2,173 BAC clones and covering the whole genome a 1.5‐Mb resolution, constructed used analysis. Two deletions were identified: 1.4‐Mb deletion at 3p26.2‐p26.3 13.7‐Mb 13q32.3‐qter. Reexamination of chromosome preparations sample documented mixture cells 13q‐ those 46,XX...