Naomi Tsuchida
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Explore the profile of Naomi Tsuchida including associated specialties, affiliations and a list of published articles.
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74
Citations
522
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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.
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...
4.
Kashino K, Tsuchida N, Maeda A, Uchiyama Y, Kirino Y, Matsumoto N, et al.
Int J Dermatol
. 2024 Dec;
PMID: 39739863
No abstract available.
5.
Kakurai M, Honda R, Tsuchida N, Maeda A, Uchiyama Y, Matsumoto N, et al.
Eur J Dermatol
. 2024 Nov;
34(5):545-546.
PMID: 39589043
No abstract available.
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.
Inamori K, Nakamura K, Shishido F, Hsu J, Nagafuku M, Nitta T, et al.
Front Neurosci
. 2024 Aug;
18:1437668.
PMID: 39145292
Hereditary spastic paraplegia (HSP) is a heterogeneous group of neurological disorders that are characterized by progressive spasticity and weakness in the lower limbs. SPG26 is a complicated form of HSP,...
8.
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...
9.
Miyatake S, Doi H, Yaguchi H, Koshimizu E, Kihara N, Matsubara T, et al.
J Neurol Neurosurg Psychiatry
. 2024 May;
95(12):1187-1195.
PMID: 38816190
Background: Although pure GAA expansion is considered pathogenic in SCA27B, non-GAA repeat motif is mostly mixed into longer repeat sequences. This study aimed to unravel the complete sequencing of repeat...
10.
Ohashi T, Kunimoto H, Nukui J, Teshigawara H, Koyama S, Miyazaki T, et al.
Int J Hematol
. 2024 Mar;
119(5):603-607.
PMID: 38489090
Bloom syndrome (BS) is an autosomal recessive genetic disorder caused by variants in the BLM gene. BS is characterized by distinct facial features, elongated limbs, and various dermatological complications including...