A5090991528- Growth Hormone and Insulin-like Growth Factors
- Coronary Interventions and Diagnostics
- Genetic Syndromes and Imprinting
- Cardiac Imaging and Diagnostics
- Cardiac Valve Diseases and Treatments
- Lipid metabolism and disorders
- Thyroid Disorders and Treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Congenital heart defects research
- Acute Myocardial Infarction Research
- Metabolism, Diabetes, and Cancer
- Birth, Development, and Health
- Cardiovascular Function and Risk Factors
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Pancreatic function and diabetes
- Cancer, Hypoxia, and Metabolism
- Viral-associated cancers and disorders
- Ion Transport and Channel Regulation
- Sexual Differentiation and Disorders
- Electrolyte and hormonal disorders
- Heterotopic Ossification and Related Conditions
- Virus-based gene therapy research
- Cancer-related molecular mechanisms research
- Genetic and Kidney Cyst Diseases
- Renin-Angiotensin System Studies
Aichi Medical University
2013-2025
Tottori University
2012-2024
Cincinnati Children's Hospital Medical Center
2018-2024
University of Cincinnati
2019-2024
Aichi Medical University Hospital
2023-2024
Japanese Circulation Society
2019
Nagasaki University
1997-2001
Silver-Russell syndrome (SRS) is a heterogeneous disorder characterized by intrauterine and postnatal growth retardation. HMGA2 variants are rare cause of SRS its functional role in human linear unclear. Patients with suspected negative for 11p15LOM/mUPD7 underwent whole-exome and/or targeted-genome sequencing. Mutant protein expression nuclear localization were assessed. Two Hmga2-knockin mouse models generated. Five clinical patients harbored differing impacts: 2 stop-gain nonsense...
Leprechaunism (Donohue syndrome) is the most severe type of insulin receptor (INSR) gene anomaly with majority patients surviving for only 2 years. We report a -year-old male leprechaunism, bearing novel compound heterozygous mutations in INSR. The patient Japanese boy acanthosis nigricans, lack subcutaneous fat, hirsutism, thick lips, gum hypertrophy and extremely high levels (6702 mU/mL). He was as having identified INSR (p.T910M p. E1047K). At 24 day-old, recombinant human insulin-like...
Pregnancy-associated plasma protein A2 (PAPPA2) is a protease that cleaves IGF-binding (IGFBP)-3 and IGFBP-5, liberating free IGF-I. Five patients from two families with genetic mutations in PAPPA2 presented growth retardation, elevated total IGF-I, IGFBP-3 but decreased To determine whether transfusion or recombinant human (rh)PAPPA2 could increase IGF-I deficiency idiopathic short stature (ISS). Single patient interventional study combined vitro experimentation. Academic medical center....
The type I insulin-like growth factor receptor (IGF1R) plays an important role in growth. We aimed to evaluate the detailed mechanism underlying effect of IGF1R on human growth.We have performed sequence analysis 55 patients with SGA short stature Japan, since 2004, and identified novel heterozygous nonsense mutations 2 patients: 8-year-old Japanese boy (case 1), a birthweight 2228 g (-3·3 SDS) height 46 cm (-2·1 SDS), 3-year-old girl 2), 2110 (-3·0 44·3 (-2·8 SDS). Both had (-3·2 SDS, -3·1...
Pregnancy-associated plasma protein-A2 (PAPP-A2) is a metalloproteinase that cleaves IGFBP-3 and IGFBP-5. Human mutations in PAPPA2 result short stature with low percentage of free IGF-I. Little known about PAPP-A2 levels the regulation IGF-I throughout childhood. We examined intact childhood explored associations between PAPP-A2, total IGF-I, their relationship to anthropometric factors.Cross-sectional study at single center.PAPP-A2, were measured (3-18 years old) an evaluation these...
Bioactive free IGF-I is critically important for growth. The bioavailability of modulated by the IGF-binding proteins (IGFBPs) and their proteases, such as pregnancy-associated plasma protein-A2 (PAPP-A2). We have created a mouse model with specific mutation in PAPPA2 identified human PAPP-A2 deficiency. was introduced to genome via knock-in strategy, creating mice detectable protein levels Papp-a2 but without protease activities. found that Pappa2 led significant reductions body length...
<b><i>Background/Aims:</i></b> Cholesterol side-chain cleavage enzyme (P450scc) deficiency is a rare genetic disorder causing primary adrenal insufficiency with or without 46,XY of sexual development (DSD). Herein, we report case the combination insufficiency, DSD (testes female external genitalia in setting 47,XXY karyotype), and Angelman syndrome. <b><i>Methods:</i></b> Comprehensive analyses were performed, including single nucleotide...
Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease characterized by resistance to aldosterone, and the renal form of PHA1 associated with heterozygous inactivating mutations in NR3C2, which encodes mineralocorticoid receptor (MR). Here we report case due novel frameshift mutation NR3C2. A 10-day-old Japanese male infant, born at 39 weeks gestation (birth weight, 2,946 g), was admitted our hospital because lethargy vomiting, 6.7% weight loss since birth. Laboratory test results...
Posttransplant lymphoproliferative disorder (PTLD) is a serious complication following solid organ or hematopoietic stem cell transplantation (HSCT). Although extranodal involvement of PTLD common, its isolated in the central nervous system (CNS) extremely rare. To date, primary CNS-PTLD has been reported 13 patients who underwent allogeneic HSCT, but no cases have autologous HSCT recipients.Herein, we report first patient with neuroblastoma that progressed to after peripheral blood...
The growth hormone and insulin-like factor (IGF) system is integral to human growth. Genome-wide association studies (GWAS) have identified variants associated with height located near the genes in this pathway. However, mechanisms underlying these genetic associations are not understood. To investigate regulation of pathway by which could affect growth, we performed GWAS measured serum protein levels IGF-I, IGF binding protein-3 (IGFBP-3), pregnancy-associated plasma A (PAPP-A2), IGF-II...
Abstract A 46‐year‐old woman who presented with severe stenosis endothelial damage caused by recurrent spasm in the left main coronary artery received medical therapy. However, she developed spasm, resulting circulatory collapse, which was successfully treated bypass grafting.
Abstract We report a 14‐year‐old boy with Castleman disease in this article. He complained of short stature, and his body height was 133.8 cm (<3rd percentile; z score −4.5). There marked delay the appearance secondary sexual characteristics. found to have remittent fever lower mid‐abdominal tumor. Blood test revealed microcytic hypochromic anemia, thrombocytosis, polyclonal hypergammaglobulinemia, hyperfibrinogenemia, elevated erythrocyte sedimentation rate. The serum IL‐6 C‐reactive...
Hypoglycemia is the most common metabolic problem among small-for-gestational-age (SGA) neonates. However, pathological mechanism and insulin/ insulin-like growth factor (IGF) signaling axis in neonates remain unknown.To determine insulin/IGF neonates, we analyzed messenger RNA (mRNA) expression of fetal umbilical cord blood.The Perinatal Medical Center Tottori University Hospital.Fifty-two [42 appropriate-for-gestational-age (AGA) 10 SGA] neonates.Immediately collected blood was placed into...
Type 1 insulin-like growth factor receptor (IGF1R) plays an important role in normal fetal and postnatal growth. Over 30 pathogenic variants of IGF1R have been identified patients with short stature. Yet, 20 years after the first report, a variety phenotypes remain poorly defined. We analyzed genetic clinical data responses to GH therapy 11 using results from questionnaires. Eight already reported previous articles, all mutations were heterozygous. The exhibited various phenotypes. At least...