Satoko Miyatake
Overview
Explore the profile of Satoko Miyatake including associated specialties, affiliations and a list of published articles.
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Articles
212
Citations
3140
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Recent Articles
1.
Mizuguchi T, Okamoto N, Hara T, Nishimura N, Sakamoto M, Fu L, et al.
Clin Epigenetics
. 2025 Feb;
17(1):27.
PMID: 39966947
Background: In various neurodevelopmental disorders (NDDs), sets of differential methylation marks (referred to as DNA methylation signatures or episignatures) are syndrome-specific and useful in evaluating the pathogenicity of detected genetic...
2.
Iwama K, Kato M, Uchiyama Y, Sakamoto M, Miyamoto R, Izumi Y, et al.
J Hum Genet
. 2025 Jan;
70(4):181-188.
PMID: 39843638
Interferon regulatory factor 2 binding protein-like (IRF2BPL) is a single-exon gene that is ubiquitously expressed in various tissues, including the brain. IRF2BPL encodes a transcription factor with two zinc-finger domains...
3.
Tsukamura A, Ariyama H, Hayashi N, Miyatake S, Okado S, Sultana S, et al.
Dis Model Mech
. 2025 Jan;
18(3).
PMID: 39829138
Mitochondria contribute to cellular metabolism by providing a specialised milieu for energising cells by incorporating and processing the metabolites. However, heterogeneity between mitochondria has only partially been elucidated. Mitochondria dynamically...
4.
Fujita A, Suenaga Y, Takeshita E, Takahashi Y, Suzuki Y, Ohori S, et al.
J Hum Genet
. 2025 Jan;
70(4):227-230.
PMID: 39809889
In monogenic diseases, double mosaic variants of the same gene have rarely been identified. Here, we report the case of triple mosaic variants in PURA, a gene responsible for a...
5.
Masuko S, Sato M, Nakamura K, Hamanaka K, Miyatake S, Inaba Y, et al.
Mol Genet Genomic Med
. 2024 Nov;
12(11):e70044.
PMID: 39587727
Background: Heterozygous variants of sequestosome-1 gene (SQSTM1) have been reported in patients with various neurological disorders, whereas biallelic pathogenic variants of SQSTM1 can cause child-onset and multisystem neurodegeneration, including cerebellar...
6.
Fu L, Yamamoto Y, Seyama R, Matsuzawa N, Nagaoka M, Yao T, et al.
J Hum Genet
. 2024 Oct;
70(1):63-66.
PMID: 39414989
CEP55 encodes centrosomal protein 55 kDa, which plays a crucial role in mitosis, particularly cytokinesis. Biallelic CEP55 variants cause MARCH syndrome (multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly)....
7.
Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report
Hanada K, Osaki Y, Miyamoto R, Muto K, Haji S, Nazere K, et al.
Hum Genome Var
. 2024 Aug;
11(1):29.
PMID: 39143067
Charcot-Marie-Tooth disease type 2Z is caused by MORC2 mutations and presents with axonal neuropathy. MORC2 mutations can also manifest as developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN)....
8.
Nakamura Y, Shimada I, Maroofian R, Falabella M, Zaki M, Fujimoto M, et al.
Brain
. 2024 Jul;
147(11):3949-3967.
PMID: 39082157
Patatin-like phospholipase domain-containing lipase 8 (PNPLA8), one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. Biallelic variants in PNPLA8 have...
9.
Watanabe K, Bunai T, Sakamoto M, Ishigaki S, Iwakura T, Ohashi N, et al.
J Neurol
. 2024 Jul;
271(9):6227-6237.
PMID: 39078482
Background: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease caused by the expansion of GGC repeats in the 5'-untranslated region (5'-UTR) of NOTCH2NLC. Although increasing evidence suggests that...
10.
Ohori S, Numabe H, Mitsuhashi S, Tsuchida N, Uchiyama Y, Koshimizu E, et al.
Genomics
. 2024 Jul;
116(5):110894.
PMID: 39019410
Technologies for detecting structural variation (SV) have advanced with the advent of long-read sequencing, which enables the validation of SV at a nucleotide level. Optical genome mapping (OGM), a technology...