Hirotomo Saitsu 研究室

主宰者：Hirotomo Saitsu

浜松医科大学

AI 要約（直近 5 年の研究成果）

本研究室は、遺伝子の異常が引き起こす希少疾患の原因解明と診断に取り組んでいます。特に、発達遅滞、神経疾患、網膜変性疾患、内分泌異常、先天性心疾患など、多様な臨床表現型を示す遺伝性疾患を研究対象としています。患者の血液やゲノムデータを用いた全エクソーム配列解析や全ゲノム配列解析によって、原因となる遺伝子変異を同定し、その病態メカニズムを明らかにすることが主要な目標です。研究手法としては、患者から得られた遺伝情報を高速シーケンシング技術で解析し、候補となる遺伝子変異を抽出するアプローチを採用しています。同時に、生化学的実験や動物モデル、培養細胞系を用いた機能解析を行い、同定した変異がどのようなメカニズムで病態を起こすのかを検証しています。また、複数の患者データを集積して遺伝型と臨床症状の関連性を明らかにする大規模コホート研究も実施しており、診断効率の向上に向けた情報解析方法の開発にも力を入れています。これらの研究を通じて、従来は原因が不明だった希少疾患に対して分子レベルでの診断を可能にし、最終的には患者への臨床応用につながる知見の獲得を目指しています。

※ AI（Claude）が、公開されている論文要旨から研究の問い・手法・主要な発見を事実情報として抽出・再構成して自動生成しています。誤りを含む可能性があるため、正確性は研究室公式情報でご確認ください。

外部リンク

研究成果（100 件）

[2026] Spuriously Elevated Free Thyroxine Due to Fibrin Interference in a Patient Receiving Apixaban: A Case Report and Literature Review
DOI: https://doi.org/10.2169/internalmedicine.6473-25
[2026] A maternal exon H splice-site variant leading to pseudohypoparathyroidism type 1B with broad methylation defects in GNAS-differentially methylated regions
DOI: https://doi.org/10.1186/s13148-026-02107-y
[2026] Fibrin-related interference as a cause of spuriously elevated thyroid hormone measurements: Genetic and acquired factors
DOI: https://doi.org/10.1177/00045632261435392
[2026] De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalings
DOI: https://doi.org/10.1038/s10038-025-01448-5
[2026] Myocardial testosterone glucuronide and disease phenotypes in hypertrophic cardiomyopathy
DOI: https://doi.org/10.1093/eschf/xvag024
[2026] Age‐dependent electroclinical evolution from focal seizures to epileptic spasms in <scp> NUSAP1 </scp> ‐related malformations of cortical development
DOI: https://doi.org/10.1002/epd2.70325
[2026] Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder
DOI: https://doi.org/10.1038/s41431-026-02151-5
[2026] Long-term observation of retinal dystrophy genetically diagnosed as ROSAH syndrome
DOI: https://doi.org/10.1016/j.jfop.2026.100195
[2026] Genotype–Phenotype Correlations in RPGRIP1-Associated Retinal Dystrophy in a Nationwide Japanese Cohort
DOI: https://doi.org/10.1016/j.ajo.2026.05.002
[2026] Elevated cerebrospinal fluid 2-hydroxybutyric acid in two siblings with aspartate-glutamate carrier 1 deficiency
DOI: https://doi.org/10.1016/j.ymgme.2026.110105

続きを表示（残り 90 件）

[2026] Pontocerebellar hypoplasia type 9 with a novel combination of compound heterozygous variants in AMPD2
DOI: https://doi.org/10.1038/s41439-026-00348-0
[2026] Identification of 5’ untranslated region variants in genes involved in neurodevelopmental disorders
DOI: https://doi.org/10.1038/s10038-025-01446-7
[2026] <scp>CaMKIIβ</scp> insufficiency disrupts cortical networks, producing aberrant low‐gamma oscillations and seizure susceptibility
DOI: https://doi.org/10.1002/epi.70250
[2026] A key gene modulating oxytocin efficacy in autism: genome-wide discovery and verification in randomized controlled trials datasets
DOI: https://doi.org/10.1038/s41380-026-03562-y
[2026] Novel HK1 intronic variant in congenital hyperinsulinism: impaired transactivation function for FOXA2
DOI: https://doi.org/10.1093/ejendo/lvag058
[2025] Effectiveness of Pallidal Stimulation for Dystonic Storm and Subsequent Ssevere Posterior Reversible Encephalopathy Syndrome in a Patient with GNAO1 Variant.
DOI: https://doi.org/10.18926/amo/69156
[2025] Phenotypic variation in a family with GABRG2-related epilepsy caused by a novel missense variant
DOI: https://doi.org/10.1016/j.seizure.2025.08.012
[2025] An atypical case of macrocephaly and severe intellectual disability associated with a missense variant in the guanine nucleotide exchange factor-1 domain of TRIO
DOI: https://doi.org/10.1016/j.braindev.2025.104405
[2025] Limitations of short-read NGS in detecting RP1 Alu insertions: a case emphasizing Sanger confirmation
DOI: https://doi.org/10.1080/13816810.2025.2590162
[2025] Refractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case series
DOI: https://doi.org/10.1016/j.braindev.2025.104478
[2025] Japanese siblings with neuronal ceroid lipofuscinosis type 7 showing different initial symptoms due to biallelic MFSD8 variants: A case report
DOI: https://doi.org/10.1016/j.bdcasr.2025.100114
[2025] Comprehensive Molecular Studies in 88 Japanese Patients With Congenital Hypogonadotropic Hypogonadism
DOI: https://doi.org/10.1210/clinem/dgaf548
[2025] Muscle and thyroid manifestations in TANGO2 deficiency disorder: a case study of novel biallelic variants
DOI: https://doi.org/10.1016/j.braindev.2025.104442
[2025] Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome
DOI: https://doi.org/10.1038/s10038-025-01395-1
[2025] A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant
DOI: https://doi.org/10.1038/s10038-025-01392-4
[2025] Disease progress in a patient with pyridoxine-dependent epilepsy, who was diagnosed at 12 months of age
DOI: https://doi.org/10.1016/j.bdcasr.2025.100093
[2025] Immunohistochemical and molecular evolutionary features of jejunoileal adenocarcinoma unveiled through comparative analysis with colorectal adenocarcinoma
DOI: https://doi.org/10.1016/j.neo.2025.101180
[2025] 全般性発達遅滞，特徴的顔貌，心室中隔欠損症を呈した9pトリソミーの1例
[2025] Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases
DOI: https://doi.org/10.1186/s12911-025-02910-2
[2025] Clinical and genetic spectrum of patients with IRF2BPL syndrome
DOI: https://doi.org/10.1038/s10038-025-01316-2
[2025] Homozygous FIGLA missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature review
DOI: https://doi.org/10.1002/rmb2.12635
[2025] Mutant-specific dysfunction of RHOBTB2 impairs mitochondrial function and Na+/K+-ATPase levels in a cell model
DOI: https://doi.org/10.1016/j.bbamcr.2025.120103
[2025] Elevated cerebrospinal fluid 2-Hydroxybutyric acid in two siblings with aspartate-glutamate carrier 1 deficiency
DOI: https://doi.org/10.1016/j.ymgme.2025.109712
[2024] Long‐term clinical observation of patients with heterozygous <scp>KIF1A</scp> variants
DOI: https://doi.org/10.1002/ajmg.a.63656
[2024] Homozygous Microdeletion Involving Exon 1 of <scp>ERCC8</scp> and <scp>NDUFAF2</scp> With Uniparental Isodisomy of Chromosome 5
DOI: https://doi.org/10.1002/mgg3.70037
[2024] Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield
[2024] Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome Due to Replication Factor C Subunit 1 Gene Repeat Expansion
DOI: https://doi.org/10.1097/rlu.0000000000005047
[2024] Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome
DOI: https://doi.org/10.3389/fped.2024.1360867
[2024] Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome
DOI: https://doi.org/10.1038/s44321-024-00178-z
[2024] Insulin resistant diabetes mellitus in a girl with mild Rabson-Mendenhall syndrome: efficacy of sodium glucose co-transporter 2 inhibitor
DOI: https://doi.org/10.1007/s13340-024-00773-y
[2024] Spatial and temporal expression analysis of BMP signal modifiers, Smoc1 and Smoc2, from postnatal to adult developmental stages in the mouse testis
DOI: https://doi.org/10.1016/j.gep.2024.119383
[2024] CLCN2-related leukoencephalopathy with novel compound heterozygous variants followed with magnetic resonance imaging over 17 years: a case report
DOI: https://doi.org/10.1186/s12883-024-03919-2
[2024] Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing
DOI: https://doi.org/10.1038/s41598-024-75020-0
[2024] A new case of developmental and epileptic encephalopathy and macrocytic anemia with stretched-activated ion channel TMEM63B variant
DOI: https://doi.org/10.1016/j.bdcasr.2024.100043
[2024] A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis
DOI: https://doi.org/10.1007/s00415-024-12593-w
[2024] A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis
DOI: https://doi.org/10.1038/s10038-024-01268-z
[2024] Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver–Russell syndrome: case reports and literature review
DOI: https://doi.org/10.1186/s13148-024-01688-w
[2024] GRIN2A-related disorder causes profound developmental delay and a disorder affecting movement
DOI: https://doi.org/10.1016/j.bdcasr.2024.100034
[2024] The non-canonical bivalent gene Wfdc15a controls spermatogenic protease and immune homeostasis
DOI: https://doi.org/10.1242/dev.202834
[2024] Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield
DOI: https://doi.org/10.1038/s10038-024-01283-0
[2024] Spontaneous Remission of Epileptic Seizures Following Norovirus Infection in a Patient With DNM1 Encephalopathy
DOI: https://doi.org/10.7759/cureus.60748
[2023] Novel compound heterozygous <scp>ATP1A2</scp> variants in a patient with fetal akinesia/hypokinesia sequence
DOI: https://doi.org/10.1002/ajmg.a.63453
[2023] Diagnostic MR imaging features of hypomyelination of early myelinating structures: A case report
DOI: https://doi.org/10.1177/19714009231224419
[2023] RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing
DOI: https://doi.org/10.1038/s10038-023-01211-8
[2023] <scp>TBX5</scp> pathogenic variant in a patient with congenital heart defect and tracheal stenosis
DOI: https://doi.org/10.1111/cga.12548
[2023] Splicing variant of WDR37 in a case of Neurooculocardiogenitourinary syndrome
DOI: https://doi.org/10.1016/j.braindev.2023.11.007
[2023] A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1
DOI: https://doi.org/10.1038/s41439-023-00256-7
[2023] Two novel cases of biallelic SMPD4 variants with brain structural abnormalities
DOI: https://doi.org/10.1007/s10048-023-00737-5
[2023] Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis
DOI: https://doi.org/10.1016/j.jsbmb.2023.106403
[2023] The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients
DOI: https://doi.org/10.3390/ijms241813678
[2023] A Novel Constitutively Active <a:math xmlns:a="http://www.w3.org/1998/Math/MathML" id="M1"> <a:mi>c</a:mi> <a:mo>.</a:mo> <a:mn>98</a:mn> <a:mi>G</a:mi> <a:mo>></a:mo> <a:mi>C</a:mi> </a:math>, p.(R33P) Variant in RAB11A Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial Arborization
DOI: https://doi.org/10.1155/2023/8126544
[2023] The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus
DOI: https://doi.org/10.1038/s41439-023-00247-8
[2023] Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature
DOI: https://doi.org/10.1507/endocrj.ej23-0502
[2023] A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation
DOI: https://doi.org/10.1016/j.braindev.2023.07.006
[2023] Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndrome
DOI: https://doi.org/10.3389/fgene.2023.1221745
[2023] Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan
DOI: https://doi.org/10.3389/fneur.2023.1085228
[2023] Microdeletion at ESR1 Intron 6 (DEL_6_75504) Is a Susceptibility Factor for Cryptorchidism and Hypospadias
DOI: https://doi.org/10.1210/clinem/dgad187
[2023] Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome
DOI: https://doi.org/10.1111/ahg.12507
[2023] A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene
DOI: https://doi.org/10.1038/s41439-023-00239-8
[2023] c.116G>A, p.(Arg39His) ホモ接合性バリアントが同定された一過性眼振を伴う遊離シアル酸蓄積症の姉弟例
[2023] A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome
DOI: https://doi.org/10.1038/s10038-023-01143-3
[2023] Incomplete hippocampal inversion in patients with mutations in genes involved in sonic hedgehog signaling
DOI: https://doi.org/10.1016/j.heliyon.2023.e14712
[2023] An integrated genetic analysis of epileptogenic brain malformed lesions
DOI: https://doi.org/10.1186/s40478-023-01532-x
[2023] Multiple hemangiomas (hepatic small vessel neoplasia) in the liver with Budd-Chiari syndrome
DOI: https://doi.org/10.1007/s00428-023-03505-w
[2022] Incomplete Hippocampal Inversion in Patients with Mutations in Genes Involved in Sonic Hedgehog Signaling
DOI: https://doi.org/10.2139/ssrn.4254449
[2022] Elucidation of pathological mechanism caused by human disease mutation in CaMKIIβ
DOI: https://doi.org/10.1002/jnr.25013
[2022] Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata
DOI: https://doi.org/10.1038/s10038-021-01000-1
[2022] Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review
DOI: https://doi.org/10.1297/cpe.2022-0020
[2022] De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities
DOI: https://doi.org/10.1038/s10038-022-01106-0
[2022] Cnpy3 mice reveal neuronal expression of Cnpy3 in the brain
DOI: https://doi.org/10.1016/j.jneumeth.2022.109730
[2022] Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)
DOI: https://doi.org/10.1038/s41598-022-21751-x
[2022] Generation of Flag/DYKDDDDK Epitope Tag Knock-In Mice Using i-GONAD Enables Detection of Endogenous CaMKIIα and β Proteins
DOI: https://doi.org/10.3390/ijms231911915
[2022] The ATRX splicing variant c.21-1G>A is asymptomatic
DOI: https://doi.org/10.1038/s41439-022-00212-x
[2022] A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants
DOI: https://doi.org/10.1080/13816810.2022.2141788
[2022] Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy
DOI: https://doi.org/10.1016/j.gim.2022.08.007
[2022] A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome
DOI: https://doi.org/10.1038/s10038-022-01090-5
[2022] Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo
DOI: https://doi.org/10.1212/nxg.0000000000000682
[2022] A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3
DOI: https://doi.org/10.1212/nxg.0000000000000680
[2022] Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants
DOI: https://doi.org/10.1186/s13073-022-01042-w
[2022] ACAN biallelic variants in a girl with severe idiopathic short stature
DOI: https://doi.org/10.1038/s10038-022-01030-3
[2022] Two novel heterozygous variants in ATP1A3 cause movement disorders
DOI: https://doi.org/10.1038/s41439-022-00184-y
[2022] Neurochemistry evaluated by MR spectroscopy in a patient with SPTAN1-related developmental and epileptic encephalopathy
DOI: https://doi.org/10.1016/j.braindev.2022.02.001
[2022] Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa
DOI: https://doi.org/10.3390/genes13020359
[2022] A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia
DOI: https://doi.org/10.1038/s41439-022-00198-6
[2022] An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation
DOI: https://doi.org/10.1007/s10048-022-00686-5
[2022] Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing
DOI: https://doi.org/10.1038/s10038-022-01016-1
[2022] Retinitis pigmentosa with optic neuropathy and COQ2 mutations: A case report
DOI: https://doi.org/10.1016/j.ajoc.2022.101298
[2021] A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay
DOI: https://doi.org/10.1016/j.braindev.2021.09.006
[2021] Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet
DOI: https://doi.org/10.1016/j.ymgmr.2021.100800
[2021] Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation
DOI: https://doi.org/10.1016/j.braindev.2021.10.004

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AI 要約（直近 5 年の研究成果）

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研究成果（100 件）

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