Shigeo Kure
A5073879473- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Amino Acid Enzymes and Metabolism
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Biochemical and Molecular Research
- RNA modifications and cancer
- Protein Tyrosine Phosphatases
- Neonatal Health and Biochemistry
- Moyamoya disease diagnosis and treatment
- Diet and metabolism studies
- Folate and B Vitamins Research
- Epilepsy research and treatment
- Genomic variations and chromosomal abnormalities
- Glycogen Storage Diseases and Myoclonus
- Galectins and Cancer Biology
- RNA regulation and disease
- Cerebrovascular and genetic disorders
- Birth, Development, and Health
- Blood disorders and treatments
- Cancer, Hypoxia, and Metabolism
- Immune Cell Function and Interaction
- Cell Adhesion Molecules Research
- Renal Diseases and Glomerulopathies
- RNA and protein synthesis mechanisms
Tohoku University
2015-2024
Tohoku Medical Megabank Organization
2015-2024
Miyagi Children's Hospital
2022-2024
Tohoku University Hospital
2014-2024
Sendai Medical Center
2019
Université Paris Cité
2018
John Wiley & Sons (United States)
2018
Hudson Institute
2018
CARE Canada
2018
Graduate School USA
2018
Abstract The Tohoku Medical Megabank Organization reports the whole-genome sequences of 1,070 healthy Japanese individuals and construction a population reference panel (1KJPN). Here we identify through this high-coverage sequencing (32.4 × on average), 21.2 million, including 12 million novel, single-nucleotide variants (SNVs) at an estimated false discovery rate <1.0%. This detailed analysis detected signatures for purifying selection regulatory elements as well coding regions. We also...
The Great East Japan Earthquake (GEJE) and resulting tsunami of March 11, 2011 gave rise to devastating damage on the Pacific coast Tohoku region. Medical Megabank Project (TMM), which is being conducted by University Organization (ToMMo) Iwate (IMM), has been launched realize creative reconstruction solve medical problems in aftermath this disaster. We started two prospective cohort studies Miyagi Prefectures: a population-based adult study, TMM Community-Based Cohort Study (TMM CommCohort...
RNF213 was recently reported as a susceptibility gene for moyamoya disease (MMD). Our aim to clarify the correlation between genotype and MMD phenotype.The entire coding region of sequenced in 204 patients with MMD, corresponding variants were checked 62 pairs parents, 13 mothers 4 fathers patients, 283 normal controls. Clinical information collected. Genotype-phenotype correlations statistically analyzed.The c.14576G>A variant identified 95.1% familial 79.2% sporadic 1.8% controls, thus...
Diabetic kidney disease is a major cause of renal failure that urgently necessitates breakthrough in management. Here we show using untargeted metabolomics levels phenyl sulfate, gut microbiota-derived metabolite, increase with the progression diabetes rats overexpressing human uremic toxin transporter SLCO4C1 kidney, and are decreased limited proteinuria. In experimental models diabetes, sulfate administration induces albuminuria podocyte damage. diabetic patient cohort, significantly...
Mutations in the connexin 26 gene (GJB2), which encodes a gap-junction protein and is expressed inner ear, have been shown to be responsible for major part of nonsyndromic hereditary prelingual (early-childhood) deafness Caucasians. We sequenced GJB2 39 Japanese patients with (group 1), postlingual progressive sensorineural hearing loss 2), 63 individuals normal 3). Three novel mutations were identified group 1: single nucleotide deletion (235delC), 16-bp (176-191 del (16)), nonsense...
Background: We established a community-based cohort study to assess the long-term impact of Great East Japan Earthquake on disaster victims and gene-environment interactions incidence major diseases, such as cancer cardiovascular diseases.
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)...
Hereditary deafness affects about 1 in 2000 children and mutations the GJB2 gene are major cause various ethnic groups. encodes connexin26, a putative channel component cochlear gap junction. However, pathogenesis of hearing loss caused by remains obscure. The generation mouse model to study function connexin26 during has been hampered fact that Gjb2 knockout mice embryonic lethal. To establish viable we generated transgenic expressing mutant with R75W mutation was identified deaf family...