A5083490983- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- RNA modifications and cancer
- Epilepsy research and treatment
- Mitochondrial Function and Pathology
- Amino Acid Enzymes and Metabolism
- Neurogenetic and Muscular Disorders Research
- Congenital heart defects research
- Neonatal Health and Biochemistry
- Diet and metabolism studies
- Fibroblast Growth Factor Research
- Cerebrovascular and genetic disorders
- Genomic variations and chromosomal abnormalities
- Moyamoya disease diagnosis and treatment
- RNA regulation and disease
- Neonatal Respiratory Health Research
- Protein Tyrosine Phosphatases
- Congenital Heart Disease Studies
- Fetal and Pediatric Neurological Disorders
- Epigenetics and DNA Methylation
- Immunodeficiency and Autoimmune Disorders
- Digestive system and related health
- Folate and B Vitamins Research
- Platelet Disorders and Treatments
Tohoku University
2016-2025
Tohoku University Hospital
2017-2024
Sendai Medical Center
2019
Tohoku Medical Megabank Organization
2017
First Affiliated Hospital of Xi'an Jiaotong University
2017
Dokkyo Medical University Saitama Medical Center
2015
Neural tube defects (NTDs), including spina bifida and anencephaly, are common birth of the central nervous system. The complex multigenic causation human NTDs, together with large number possible candidate genes, has hampered efforts to delineate their molecular basis. Function folate one-carbon metabolism (FOCM) been implicated as a key determinant susceptibility NTDs. glycine cleavage system (GCS) is multi-enzyme component mitochondrial metabolism, GCS-encoding genes therefore represent...
No efficient treatment exists for nephrotic syndrome (NS), a frequent cause of chronic kidney disease. Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20, ITSN1, ITSN2) as causing NS 17 families with partially treatment-sensitive (pTSNS). These proteins interact and delineate their roles Rho-like small GTPase (RLSG) activity, demonstrate deficiency mutants pTSNS patients. We find that CDK20 regulates DLC1. Knockdown MAGI2, or cultured podocytes reduces migration rate....
Abstract Objective Cerebral palsy is a common, heterogeneous neurodevelopmental disorder that causes movement and postural disabilities. Recent studies have suggested genetic diseases can be misdiagnosed as cerebral palsy. We hypothesized two simple criteria, is, full‐term births nonspecific brain MRI findings, are keys to extracting masqueraders among cases due the following: (1) preterm infants susceptible multiple environmental factors therefore demonstrate an increased risk of (2)...
Abstract Insufficient thyroid hormone production in newborns is referred to as congenital hypothyroidism. Multinodular goiter (MNG), characterized by an enlarged gland with multiple nodules, usually seen adults and recognized a separate disorder from Here we performed linkage analysis of family both nongoitrous hypothyroidism MNG identified signal at 15q26.1. Follow-up analyses whole-genome sequencing genetic screening cohorts showed that changes noncoding TTTG microsatellite on 15q26.1 were...
Summary Objective GABRA 1 mutations have been identified in patients with familial juvenile myoclonic epilepsy, sporadic childhood absence and idiopathic generalized epilepsy. In addition, de novo were recently reported a patient infantile spasms four Dravet syndrome. Those reports suggest that are associated epilepsy including early onset epileptic encephalopathies. this study, we searched for to investigate the phenotypic spectrum of mutations. Methods total, 526 145 analyzed by...
Abstract The complete human genome sequence is used as a reference for next-generation sequencing analyses. However, some ethnic ancestries are under-represented in the (e.g., GRCh37) due to its bias toward European and African ancestries. Here, we perform de novo assembly of three Japanese male genomes using > 100× Pacific Biosciences long reads Bionano Genomics optical maps per sample. We integrate major allele consensus anchor scaffolds genetic radiation hybrid reconstruct each...
ATP11A translocates phosphatidylserine (PtdSer), but not phosphatidylcholine (PtdCho), from the outer to inner leaflet of plasma membranes, thereby maintaining asymmetric distribution PtdSer. Here, we detected a de novo heterozygous point mutation in patient with developmental delays and neurological deterioration. Mice carrying corresponding died perinatally disorders. This caused an amino acid substitution (Q84E) first transmembrane segment ATP11A, mutant flipped PtdCho. Molecular dynamics...
c-Jun-amino-terminal kinase-interacting protein 3 (JIP3), encoded by MAPK8IP3, is an adaptor of the kinesin-1 complex and essential for axonal transport in neurons. However, association between MAPK8IP3 variants human disease has not been established. We identified 5 individuals from four families with recurrent de novo c.1732C>T (p.Arg578Cys) c.3436C>T (p.Arg1146Cys) MAPK8IP3. The core phenotype includes spastic diplegia, intellectual disability, cerebral atrophy, corpus callosum...
Object Intraoperative diagnosis is important in determining the strategies during surgery for glioma. Because mutations isocitrate dehydrogenase 1 and 2 ( IDH1 IDH2 ) genes have diagnostic, prognostic, predictive values, authors assessed feasibility significance of a simplified method intraoperative detection gene mutations. Methods Rapid DNA extraction, amplification with conventional polymerase chain reaction (PCR) or co-amplification at lower denaturation temperature PCR (COLD-PCR),...
Skin lesions, cataracts, and congenital anomalies have been frequently associated with inherited deficiencies in enzymes that synthesize cholesterol. Lanosterol synthase (LSS) converts (S)-2,3-epoxysqualene to lanosterol the cholesterol biosynthesis pathway. Biallelic mutations LSS reported families cataracts and, very recently, cases of hypotrichosis. However, it remains be clarified whether these phenotypes are caused by enzymatic each tissue, disruption activity vivo has not yet...
Abstract Growing evidence suggest the association between Moyamoya disease (MMD) and immune systems, such as antigen presenting cells in particular. Rnf213 gene, a susceptibility gene for MMD, is highly expressed tissues, however, its function remains unclear. In addition, physiological role of RNF213 polymorphism c.14576G > A (rs112735431), variant also poorly understood. By studying ‐knockout ( ‐KO) mice with deletion largest exon32 ‐knockin ‐KI) insertion single‐nucleotide...
Hypophosphatasia (HPP) is a hereditary disorder characterized by impaired bone mineralization caused decreased tissue-nonspecific alkaline phosphatase (TNSALP) activity. Specifically, HPP loss-of-function variant in the ALPL gene encoding TNSALP. Although genotype-phenotype correlations have been described, phenotypic differences reported patients with same variants, even within families. The proband, girl, was suspected to utero fractures of long bones, suggestive osteogenesis imperfecta....