A5048970700- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Glycogen Storage Diseases and Myoclonus
- ATP Synthase and ATPases Research
- Heavy Metal Exposure and Toxicity
- Ubiquitin and proteasome pathways
- Neurogenetic and Muscular Disorders Research
- Hereditary Neurological Disorders
- Craniofacial Disorders and Treatments
- interferon and immune responses
- Biochemical and Molecular Research
- Neurological diseases and metabolism
- RNA modifications and cancer
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Biomedical Research and Pathophysiology
- Chromosomal and Genetic Variations
- Genetic Neurodegenerative Diseases
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Genetic Syndromes and Imprinting
- Chronic Myeloid Leukemia Treatments
- Circular RNAs in diseases
- Congenital Anomalies and Fetal Surgery
Toyohashi Municipal Hospital
2010-2023
Abstract Objective α ( CAMK 2A ) and β 2B isoforms of Calcium/calmodulin‐dependent protein kinase II (Ca MKII play a pivotal role in neuronal plasticity learning memory processes the brain. Here, we explore possible involvement ‐ ‐Ca variants neurodevelopmental disorders. Methods Whole‐exome sequencing was performed for 976 individuals with intellectual disability, developmental delay, epilepsy. The effect on Ca structure firing neurons evaluated by computational structural analysis,...
<h3>Background</h3> Short-chain enoyl-CoA hydratase—ECHS1—catalyses many metabolic pathways, including mitochondrial short-chain fatty acid β-oxidation and branched-chain amino catabolic pathways; however, the products essential for diagnosis of ECHS1 deficiency have not yet been determined. The objective this report is to characterise a mild form its biochemically, determine candidate product that can be efficiently used neonatal diagnosis. <h3>Methods</h3> We conducted detailed clinical,...
Abstract Although there are many known Mendelian genes linked to epileptic or developmental and encephalopathy (EE/DEE), its genetic architecture is not fully explained. Here, we address this incompleteness by analyzing exomes of 743 EE/DEE cases 2366 controls. We observe that damaging ultra-rare variants (dURVs) unique an individual significantly overrepresented in EE/DEE, both the other non-EE/DEE genes. Importantly, enrichment dURVs significant, even subset with diagnostic ( P =...
ABSTRACT Importance Transient neonatal zinc deficiency (TNZD) occurs in breastfed infants due to abnormally low breast milk levels. Mutations the solute carrier family 30 member 2 ( SLC30A2 ) gene, which encodes transporter ZNT2, cause concentration milk. Objective This study aimed provide further insights into TNZD pathophysiology. Methods sequencing was performed three unrelated Japanese mothers, whose developed low‐zinc consumption. The effects of identified mutations were examined using...
To study the effect of exchange transfusion on cytokine profiles in a patient with transient myeloproliferative disorder and hepatic fibrosis which cytokines were measured before after transfusion. A newborn female was diagnosed Down syndrome phenotypically karyotyping. Laboratory data showed high leukocyte count blast cells peripheral blood liver dysfunction. Exchange performed day 1. However, respiratory distress multiorgan failure progressed, she died 16 days. Of examined, transforming...
A heterozygous deletion at Xq27.3q28 including FMR1, AFF2, and IDS causing intellectual disability characteristic facial features is very rare in females, with only 10 patients having been reported. Here, we examined two female different clinical harboring the determined chromosomal breakpoints. Moreover, assessed X chromosome inactivation (XCI) peripheral blood from both patients. Both had an almost overlapping Xq27.3q28, however, more severe patient (Patient 1) showed skewed XCI of normal...
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