Keiko Matsubara
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Explore the profile of Keiko Matsubara including associated specialties, affiliations and a list of published articles.
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99
Citations
793
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Recent Articles
1.
Akiyama M, Matsubara K, Terashima H, Abe Y, Ohno K, Kamei K
CEN Case Rep
. 2025 Feb;
PMID: 39913008
Uniparental isodisomy (UPiD) is a genetic condition in which an individual inherits two identical copies of a chromosome, or part of a chromosome, from one parent. UPiD can result in...
2.
Uehara E, Shimura N, Matsubara K, Kageyama I, Yorifuji T, Fukami M
Clin Pediatr Endocrinol
. 2025 Jan;
34(1):66-69.
PMID: 39777127
The ATP-binding cassette transporter subfamily C member 8 (ABCC8) regulates insulin secretion from β-cells. Loss- and gain-of-function variants of have been implicated in neonatal hyperinsulinemic hypoglycemia and young-onset diabetes, respectively....
3.
Akiba K, Matsubara K, Hattori A, Fukami M
Endocr J
. 2024 Dec;
PMID: 39710377
Over 70 intragenic copy-number variations (CNVs) of PHEX have been identified in patients with X-linked hypophosphatemia (XLH). However, the underlying mechanism of these CNVs has been poorly investigated. Furthermore, although...
4.
Ogawa T, Narusawa H, Nagasaki K, Kosaki R, Naiki Y, Aramaki M, et al.
J Clin Endocrinol Metab
. 2024 Dec;
PMID: 39693239
Objective: Temple syndrome (TS14) is a rare 14q32.2-related imprinting disorder. Here, we report comprehensive clinical findings in TS14. Methods: We obtained detailed clinical findings in 60 Japanese patients with genetically...
5.
Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance
Urakawa T, Soejima H, Yamoto K, Hara-Isono K, Nakamura A, Kawashima S, et al.
Clin Epigenetics
. 2024 Oct;
16(1):138.
PMID: 39369220
Background: Multi-locus imprinting disturbance (MLID) with methylation defects in various differentially methylated regions (DMRs) has recently been identified in approximately 150 cases with imprinting disorders (IDs), and deleterious variants have...
6.
Suzuki E, Nakabayashi K, Aoto S, Ogata T, Kuroki Y, Miyado M, et al.
Heliyon
. 2024 Sep;
10(18):e37648.
PMID: 39309794
Although some Mendelian neurodevelopmental disorders have been shown to entail specific DNA methylation changes designated as epi-signatures, it remains unknown whether epi-signatures are consistent features of other genetic disorders. Here,...
7.
Naganuma J, Suzumura H, Koyama S, Yaginuma M, Fujita Y, Watabe Y, et al.
Clin Pediatr Endocrinol
. 2024 Jul;
33(3):151-156.
PMID: 38993714
Pseudohypoparathyroidism (PHP) is a rare disorder characterized by convulsions, tetany, and sensory abnormalities caused by hypocalcemia due to parathyroid hormone (PTH) resistance. Only few patients present with involuntary movements. We...
8.
Kuroki Y, Hattori A, Matsubara K, Fukami M
Ann Pediatr Endocrinol Metab
. 2024 Jul;
29(3):156-160.
PMID: 38956752
Recent advances in long-read next-generation sequencing (NGS) have enabled researchers to identify several pathogenic variants overlooked by short-read NGS, array-based comparative genomic hybridization, and other conventional methods. Long-read NGS is...
9.
Matsubara K, Ohgami Y, Okamura K, Aoto S, Fukami M, Shimada Y
Minerva Pediatr (Torino)
. 2024 Jun;
76(3):343-349.
PMID: 38842380
Background: Previous studies suggested that drawings made by preschool boys and girls show distinguishable differences. However, children's drawings on their own are too complexly determined and inherently ambiguous to be...
10.
Uehara E, Abe K, Tanase-Nakao K, Muroya K, Hattori A, Matsubara K, et al.
Thyroid
. 2024 May;
34(7):827-836.
PMID: 38757580
is one of the major causative genes of congenital hypothyroidism (CH). Still, the mutation spectrum and clinical outcomes of biallelic variants are not fully understood. This study aimed to elucidate...