A5025356212- Connective tissue disorders research
- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Protein Tyrosine Phosphatases
- Fibroblast Growth Factor Research
- Biomedical Ethics and Regulation
- Mitochondrial Function and Pathology
- Genetic Syndromes and Imprinting
- Galectins and Cancer Biology
- Peptidase Inhibition and Analysis
- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- Blood groups and transfusion
- Lysosomal Storage Disorders Research
- Metabolism and Genetic Disorders
- Cleft Lip and Palate Research
- Genetic Neurodegenerative Diseases
- Ion channel regulation and function
- Congenital Ear and Nasal Anomalies
- Nutrition, Genetics, and Disease
- Muscle Physiology and Disorders
- Craniofacial Disorders and Treatments
Kitasato University
2015-2025
Kitasato University Hospital
2018-2022
Folkhälsans Forskningscentrum
2002
Scottish Rite Hospital
2002
University of Helsinki
2002
Perron Institute for Neurological and Translational Science
2002
The University of Western Australia
2002
Queen Elizabeth II Medical Centre
2002
Kubota (Japan)
1995
Background/Objectives: The OTOG gene is responsible for autosomal recessive non-syndromic sensorineural hearing loss and assigned as DFNB18B. To date, 44 causative variants have been reported to cause loss. However, the detailed clinical features OTOG-associated remain unclear. Methods: In this study, we analyzed 7065 patients with (mean age 26.4 ± 22.9 years, 2988 male, 3855 female, 222 without gender information) using massively parallel DNA sequencing 158 target deafness genes. We...
Abstract Objective The fukutin gene ( FKTN ) is the causative for Fukuyama‐type congenital muscular dystrophy, characterized by rather homogeneous clinical features of severe muscle wasting and hypotonia from early infancy with mental retardation. In contrast dystrophic involvement skeletal muscle, cardiac insufficiency quite rare. dystrophy one disorders associated glycosylation defects α‐dystroglycan, an indispensable molecule intra‐extra cell membrane linkage. Methods Protein functional...
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...
The identification of causative genetic variants for hereditary diseases has revolutionized clinical medicine and an extensive collaborative framework with international cooperation become a global trend to understand rare disorders. Initiative on Rare Undiagnosed Diseases (IRUD) was established in Japan provide accurate diagnosis, discover causes, ultimately cures undiagnosed diseases. fundamental IRUD system consists three pillars: diagnostic coordination, analysis centers (IRUD-ACs), data...
The α-tropomyosin-3 (TPM3) gene was screened in 40 unrelated patients with nemaline myopathy (NM). A single compound heterozygous patient identified carrying one mutation that converts the stop codon to a serine and second splicing is predicted prevent inclusion of skeletal muscle exon IX. TPM3 mutations are rare cause NM, probably accounting for less than 3% cases. severity cases may vary from severe infantile late childhood onset, slowly progressive forms.
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...
PurposeExpression of imprinted genes is regulated by DNA methylation differentially methylated regions (DMRs). Beckwith–Wiedemann syndrome an imprinting disorder caused epimutations DMRs at 11p15.5. To date, multiple defects have been reported in patients with epimutations; however, limited numbers analyzed. The susceptibility to aberrant methylation, alteration gene expression due and causative factors for remain undetermined.MethodsComprehensive analysis two quantitative methods,...
Ra-reactive factor (RaRF), a C-dependent bactericidal in mice, is composed of one polysaccharide-binding component and C4/C2-activating component. The former an oligomer 28-kDa protein corresponding to the mannose-binding mice. 100-kDa protein, P100, has been shown be present This generates 29- 70-kDa polypeptide chains when reduced. In this study, we determined nucleotide sequence cDNA coding for P100. cDNAs were prepared by reverse transcription PCR cassette-ligation-mediated on mRNA from...
FBN2, FBN1, TGFBR1, and TGFBR2 were analyzed by direct sequencing in 15 probands with suspected congenital contractural arachnodactyly (CCA). A total of four novel FBN2 mutations found (27%, 4/15), but remaining the 11 did not show any abnormality either genes. This study indicated that major CCA, TGFBR FBN1 defects may be responsible for disorder. only at introns 30, 31, 35 this study. Thus analysis a mutational hotspot from exons 22 to 36 (a middle part) should prioritized CCA as...
Abstract Background In Japan, newborn and high‐risk screening for Fabry disease (FD), an inherited X‐linked disorder caused by GLA mutations, using dried blood spots was initiated in 2006. screening, 599,711 newborns were screened December 2018, 57 from 54 families with 26 FD‐associated variants detected. 18,235 individuals who had symptoms and/or a family history of FD March 2019, 236 143 101 Totally 3, 116 detected; 41 these not registered Fabry‐database.org or ClinVar 33 definitely novel....
Heterozygous loss-of-function mutations of FGFR1 (fibroblast growth factor receptor 1) cause various disorders including hypogonadotropic hypogonadism with split-hand/foot malformation (HH-SHFM). We examined in four Japanese patients HH-SHFM (cases 1-4) and the mother case 4 HH only. Cases 1 2 had heterozygous no dominant negative effect (c.289G>A, p.[G97S]; c.2231G>C, p.[R744T]), 3 a splice donor site mutation (c.1663+1G>T). Notably, maternally inherited 8,312 bp microdeletion that involved...
Frontometaphyseal dysplasia (FMD) type 2 is an autosomal dominant disorder characterized by skeletal abnormalities and caused MAP3K7 mutation. We identified a novel missense mutation in TAB2 associated with FMD child multiple congenital malformations. This case was diagnosed as due to joint contractures bone deformities. the third report of located TAK1-binding region.