A5064137621- Pancreatic function and diabetes
- Diabetes and associated disorders
- Metabolism, Diabetes, and Cancer
- Diabetes Treatment and Management
- Diabetes Management and Research
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- Vitamin D Research Studies
- Clinical Nutrition and Gastroenterology
- Diet and metabolism studies
- Nitric Oxide and Endothelin Effects
- Bone health and osteoporosis research
- Genetic Associations and Epidemiology
- Genetic Mapping and Diversity in Plants and Animals
- Endoplasmic Reticulum Stress and Disease
- Connexins and lens biology
- Advanced Fluorescence Microscopy Techniques
- Bone health and treatments
- ATP Synthase and ATPases Research
- Pediatric Urology and Nephrology Studies
- Meat and Animal Product Quality
- RNA Interference and Gene Delivery
- Retinal Diseases and Treatments
- Diabetes Management and Education
Tokyo Women's Medical University
2005-2019
Shukutoku University
2017-2019
Tokyo Kasei University
2019
University of Chicago
1998-2000
Azabu University
2000
Howard Hughes Medical Institute
1998
Tokyo Women's College of Physical Education
1997
Fukuoka University
1992
Hepatocyte nuclear factor-4α (HNF-4α) is a member of the receptor superfamily, class ligand-activated transcription factors. A nonsense mutation in gene encoding this factor was recently found white family with one form maturity-onset diabetes young, MODY1. Here, we report exonintron organization and partial sequence human HNF-4α gene. In addition, have screened 12 exons, flanking introns minimal promoter region for mutations group 57 unrelated Japanese subjects early-onset NIDDM/MODY...
Heterozygous mutations in the transcription factors hepatocyte nuclear factor (HNF)-1 alpha, HNF-1 beta, and HNF-4 alpha are associated with maturity-onset diabetes of young (MODY) believed to cause this form by impairing pancreatic beta-cell function. The HNFs also play a central role tissue-specific regulation gene expression liver kidney, suggesting that patients MODY due mutation or may exhibit abnormal kidney Here, we have examined function series Japanese alpha/MODY1, alpha/MODY3,...
Recent studies have shown that mutations in the hepatocyte nuclear factor (HNF)-1α gene are cause of maturity-onset diabetes young type 3 (MODY3). We screened 193 unrelated Japanese subjects with NIDDM for this gene: 83 early-onset (diagnosis at <30 years age) and 110 late-onset >30 age). All members latter group also had least one sibling NIDDM. The 10 exons, flanking introns, promoter region were amplified using polymerase chain reaction sequenced directly. Mutations found 7...
We have carried out an autosomal genome scan for genes contributing to the development of type 2 diabetes and affecting BMI in Japanese population (164 families, 256 affected sib-pairs). found 12 regions that showed nominally significant multipoint evidence linkage with (i.e. logarithm odds [LOD] score >0.59, P < 0.05): chromosome 1 29.9 cM; 169.6 236.8 4 104.9 5 114.8 6 42.3 8 15.3 93.3 9 140.0 11 131.6 17 36.1 21 48.0 cM. Twelve nominal log-transformed (lnBMI): 167.9 210.5 3...
Resting energy expenditure was associated with a serum bone turnover marker in postmenopausal women type 2 diabetes (T2DMPW) the present cross-sectional study. To clarify fundamental pathological factor for correlation of metabolism and basal diabetes, 6-month prospective follow-up study carried out supplementation vitamin D.A total 44 T2DMPW were enrolled. The following factors evaluated at beginning end summer: procollagen 1 N-terminal propeptide, carboxy-terminal collagen crosslinks-1,...
iabetes is a group of metabolic disorders char-acterized by hyperglycemia resulting fromdefects in insulin secretion, action, orboth (1). A feature all forms diabetes pan-creatic -cell dysfunction caused either immune-medi-ated destruction type 1 or failure the to compensate meet increasing demand for insulinin 2 and maturity-onset young(MODY). better understanding molecular basis nonimmune-mediated diabeteshas come from genetic studies MODY, monogenic formof characterized autosomal-dominant...
Mutations in transcription factors that play a role the development of endocrine pancreas, such as insulin promoter factor-1 and NeuroD1/BETA2, have been associated with diabetes. Cell type–specific members basic helix-loop-helix (bHLH) family essential roles maintenance many differentiated cell types, including pancreatic β-cells. Neurogenin 3 is bHLH factor expressed developing central nervous system embryonic pancreas. Mice lacking this fail to develop any islet cells die postnatally from...
The hepatocyte nuclear factor 1β gene (HNF1B) is responsible for maturity-onset diabetes of the young type 5 (MODY5), which characterized by early-onset mellitus and urogenital malformations. HNF1B expressed during visceral endoderm formation. We identified a disruption great pancreatic artery in patient with MODY5 no body or tail. Our finding supports significance development pancreas.
Endothelin(ET) plays an important role in the pathogenesis of various cardiovascular lesions. To elucidate pathophysiologic significance ET development diabetic retinopathy, we determined immunoreactive levels vitreous fluid collected during vitrectomy seven patients with non-insulin dependent diabetes mellitus proliferative retinopathy and 10 nondiabetic subjects as controls. Immunoreactive retinopathy(7.5 ± 3.4 pg/ml, mean SD) were significantly lower than those (55.0 38.1 pg/ml; p <...
The basic helix-loop-helix (bHLH) family of transcription factors plays an important role in the normal development and function endocrine pancreas. Heterozygous mutations gene encoding one member this family, NeuroD1/BETA2, are associated with a monogenic form diabetes that resembles maturity-onset young (MODY) many respects. This result prompted us to screen genes related bHLH also expressed pancreatic islets for diabetes-associated mutations. We have screened 57 unrelated Japanese...
Aims/Introduction: Mutations in hepatocyte nuclear factor-4α (HNF4α) lead to various diseases, among which C-terminal deletions of HNF4α are exclusively responsible for maturity onset diabetes the young 1 (MODY1). MODY is an autosomal dominant disease characterized by a primary defect insulin response glucose, suggesting that C-terminus important pancreatic β-cell function. To clarify role HNF4α, changes cellular localization and binding ability its regulator were examined, specifically...