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
11.
Inoue Y, Tsuchida N, Kim C, Stephan B, Castro M, Honjo R, et al.
J Hum Genet
. 2024 Jan;
69(3-4):163-167.
PMID: 38228874
The gene for ATP binding cassette subfamily A member 2 (ABCA2) is located at chromosome 9q34.3. Biallelic ABCA2 variants lead to intellectual developmental disorder with poor growth and with or...
12.
Koshimizu E, Kato M, Misawa K, Uchiyama Y, Tsuchida N, Hamanaka K, et al.
J Hum Genet
. 2024 Jan;
69(3-4):153-157.
PMID: 38216729
Aromatic l-amino acid decarboxylase (AADC) deficiency is an autosomal recessive neurotransmitter disorder caused by pathogenic DOPA decarboxylase (DDC) variants. We previously reported Japanese siblings with AADC deficiency, which was confirmed...
13.
Tsuchida N, Uchiyama Y, Maeda A, Horita N, Kirino Y, Matsumoto N
Rheumatology (Oxford)
. 2023 Dec;
63(8):e229-e230.
PMID: 38059601
No abstract available.
14.
Sakamoto M, Kurosawa K, Tanoue K, Iwama K, Ishida F, Watanabe Y, et al.
J Hum Genet
. 2023 Nov;
69(2):85-90.
PMID: 38030753
Ubiquitin-specific protease 8 (USP8) is a deubiquitinating enzyme involved in deubiquitinating the enhanced epidermal growth factor receptor for escape from degradation. Somatic variants at a hotspot in USP8 are a...
15.
Hijikata A, Suyama M, Kikugawa S, Matoba R, Naruto T, Enomoto Y, et al.
Nucleic Acids Res
. 2023 Nov;
52(1):114-124.
PMID: 38015437
Next-generation DNA sequencing (NGS) in short-read mode has recently been used for genetic testing in various clinical settings. NGS data accuracy is crucial in clinical settings, and several reports regarding...
16.
Utsuno Y, Hamada K, Hamanaka K, Miyoshi K, Tsuchimoto K, Sunada S, et al.
J Hum Genet
. 2023 Nov;
69(2):69-77.
PMID: 38012394
SLC5A6 encodes the sodium-dependent multivitamin transporter, a transmembrane protein that uptakes biotin, pantothenic acid, and lipoic acid. Biallelic SLC5A6 variants cause sodium-dependent multivitamin transporter deficiency (SMVTD) and childhood-onset biotin-responsive peripheral...
17.
Hidekawa C, Yoshimi R, Saigusa Y, Tamura J, Kojitani N, Suzuki N, et al.
Front Immunol
. 2023 Sep;
14:1227403.
PMID: 37720209
Objectives: Infection is a leading cause of death in patients with systemic lupus erythematosus (SLE). Alt hough hydroxychloroquine (HCQ) has been reported to inhibit infection, evidence from Asian populations remains...
18.
Maeda A, Tsuchida N, Uchiyama Y, Horita N, Kobayashi S, Kishimoto M, et al.
Rheumatology (Oxford)
. 2023 Aug;
63(8):2056-2064.
PMID: 37606963
Objectives: To efficiently detect somatic UBA1 variants and establish a clinical scoring system predicting patients with pathogenic variants in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Methods: Eighty-nine Japanese...
19.
Hirahara Y, Yamaguchi M, Takase-Minegishi K, Kirino Y, Aoki S, Hirahara L, et al.
Rheumatology (Oxford)
. 2023 Aug;
63(2):277-284.
PMID: 37594755
Objective: The relationship between FMF and pregnancy outcomes remains unclear. This systematic review and meta-analysis aimed to clarify this association. Methods: Electronic databases-PubMed, Web of Science, Cochrane, and EMBASE-were searched...
20.
Mizuguchi T, Toyota T, Koshimizu E, Kameyama S, Fukuda H, Tsuchida N, et al.
J Hum Genet
. 2023 Aug;
68(12):875-878.
PMID: 37592133
Benign adult familial myoclonic epilepsy type 1 (BAFME1) is an autosomal dominant, adult-onset neurological disease caused by SAMD12 repeat expansion. In BAFME1, anticipation, such as the earlier onset of tremor...