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Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development
Background Moyamoya disease is an idiopathic vascular disorder of intracranial arteries. Its susceptibility locus has been mapped to 17q25.3 in Japanese families, but the susceptibility gene is… Expand
Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.
- H. Kobayashi, K. Abe, +7 authors A. Koizumi
- Biology, Medicine
- American journal of human genetics
- 15 July 2011
Autosomal-dominant spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders. In this study, we performed genetic analysis of a unique form of SCA (SCA36) that is… Expand
An Integrative Study of the Genetic, Social and Environmental Determinants of Chronic Kidney Disease Characterized by Tubulointerstitial Damages in the North Central Region of Sri Lanka
- S. Nanayakkara, S. T. M. L. D. Senevirathna, +18 authors A. Koizumi
- Journal of occupational health
- 1 January 2014
An Integrative Study of the Genetic, Social and Environmental Determinants of Chronic Kidney Disease Characterized by Tubulointerstitial Damages in the North Central Region of Sri Lanka: Shanika… Expand
Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 in East and Southeast Asian populations.
- W. Liu, T. Hitomi, H. Kobayashi, K. Harada, A. Koizumi
- Neurologia medico-chirurgica
- 15 May 2012
Moyamoya disease is an idiopathic vascular disorder of the intracranial arteries. Ring finger 213 (RNF213) was previously identified as the strongest susceptibility gene for moyamoya disease in East… Expand
Confirmation of an Association of Single-Nucleotide Polymorphism rs1333040 on 9p21 With Familial and Sporadic Intracranial Aneurysms in Japanese Patients
Background and Purpose— Genetic factors are important determinants of intracranial aneurysm (IA). Recently, a multinational, genome-wide association study identified 3 loci associated with IA,… Expand
Congenital iodine deficiency and hypothyroidism impair LTP and decrease C-fos and C-jun expression in rat hippocampus.
Iodine is essential for the synthesis of triiodothyronine (T(3)) and thyroxine (T(4)). Iodine deficiency leads to inadequate thyroid hormone. Thyroid hormones deficiency during brain development… Expand
Short-chain chlorinated paraffins in cooking oil and related products from China.
Short-chain chlorinated paraffins (SCCPs) are emerging persistent organic pollutants. It has been found that dietary intakes of SCCPs in China have recently increased and are now higher than in Japan… Expand
Combination of Linkage and Association Studies for Brain Arteriovenous Malformation
Background and Purpose— Genetic factors for brain arteriovenous malformation are unexplored because of the low incidence of familial cases, albeit local and familial clustering. We used a combination… Expand
Developmental iodine deficiency and hypothyroidism impair neural development in rat hippocampus: involvement of doublecortin and NCAM-180
BackgroundDevelopmental iodine deficiency results in inadequate thyroid hormone (TH), which damages the hippocampus. Here, we explored the roles of hippocampal doublecortin and neural cell adhesion… Expand
Rapid Progression of Unilateral Moyamoya Disease in a Patient with a Family History and an RNF213 Risk Variant
vealed two haplotypes carrying p.R4810K: allele A 2 , which is common among patients with MMD, and allele A 1 , which is rare among patients with MMD  . The patient inherited an A 1 allele for… Expand