Takuya Hiraide
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Explore the profile of Takuya Hiraide including associated specialties, affiliations and a list of published articles.
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32
Citations
298
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Recent Articles
1.
Ozawa Y, Hikoya A, Tachibana N, Komori M, Fukuda T, Ishigaki H, et al.
Cureus
. 2025 Feb;
17(1):e77129.
PMID: 39925512
Vitamin A deficiency (VAD) can manifest as xerophthalmia, a spectrum of eye conditions ranging from night blindness to severe outcomes like keratomalacia and corneal scarring. We report two cases of...
2.
Komatsu K, Kato M, Kubota K, Fukumura S, Yamada K, Hori I, et al.
Sci Rep
. 2024 Oct;
14(1):24746.
PMID: 39433808
Variant annotations are crucial for efficient identification of pathogenic variants. In this study, we retrospectively analyzed the utility of four annotation tools (allele frequency, ClinVar, SpliceAI, and Phenomatcher) in identifying...
3.
Hiraide T, Hayashi T, Ito Y, Urushibata R, Uchida H, Kitagata R, et al.
Front Pediatr
. 2024 Apr;
12:1360867.
PMID: 38628357
Background: Galloway-Mowat syndrome (GAMOS) is a rare genetic disease characterized by early-onset nephrotic syndrome and microcephaly with central nervous system abnormalities. Pathogenic variants in genes encoding kinase, endopeptidase, and other...
4.
Kawakami R, Hiraide T, Watanabe K, Miyamoto S, Hira K, Komatsu K, et al.
J Hum Genet
. 2023 Dec;
69(2):91-99.
PMID: 38102195
More than half of cases with suspected genetic disorders remain unsolved by genetic analysis using short-read sequencing such as exome sequencing (ES) and genome sequencing (GS). RNA sequencing (RNA-seq) and...
5.
Hiraide T, Shimizu K, Okumura Y, Miyamoto S, Nakashima M, Ogata T, et al.
J Hum Genet
. 2023 Mar;
68(7):499-505.
PMID: 36894704
The recent introduction of genome sequencing in genetic analysis has led to the identification of pathogenic variants located in deep introns. Recently, several new tools have emerged to predict the...
6.
Hiraide T, Akita T, Uematsu K, Miyamoto S, Nakashima M, Sasaki M, et al.
J Hum Genet
. 2022 Oct;
68(1):25-31.
PMID: 36257979
KCNB1 encodes the α-subunit of Kv2.1, the main contributor to neuronal delayed rectifier potassium currents. The subunit consists of six transmembrane α helices (S1-S6), comprising the voltage-sensing domain (S1-S4) and...
7.
Hiraide T, Shimizu K, Miyamoto S, Aoto K, Nakashima M, Yamaguchi T, et al.
J Hum Genet
. 2022 Jan;
67(7):387-392.
PMID: 35067677
Exome sequencing and panel testing have improved diagnostic yield in genetic analysis by comprehensively detecting pathogenic variants in exonic regions. However, it is important to identify non-exonic pathogenic variants to...
8.
Hiraide T, Masunaga Y, Honda A, Kato F, Fukuda T, Fukami M, et al.
J Hum Genet
. 2022 Jan;
67(5):303-306.
PMID: 34999728
X-linked dominant chondrodysplasia punctata (CDPX2) is a rare congenital disorder caused by pathogenic variants in EBP on Xp11.23. We encountered a girl and her mother with CDPX2-compatible phenotypes including punctiform...
9.
Matsushita H, Hiraide T, Hayakawa K, Okano S, Nakashima M, Saitsu H, et al.
Brain Dev
. 2021 Nov;
44(2):161-165.
PMID: 34750010
Background: Ciliopathies are the outcomes of defects of primary cilia structures and functions which cause multisystemic developmental disorders, such as polycystic kidney disease, nephronophthisis, retinitis pigmentosa, Joubert syndrome (JS), and...
10.
Fukumura S, Hiraide T, Yamamoto A, Tsuchida K, Aoto K, Nakashima M, et al.
Brain Dev
. 2021 Oct;
44(2):178-183.
PMID: 34598833
Background: Heterozygous variants in TMEM63A have been recently identified as the cause of infantile-onset transient hypomyelination. To date, four TMEM63A variants have been reported in five patients. These patients exhibited...