Tomoko Horinouchi 研究室

主宰者：Tomoko Horinouchi

神戸大学

AI 要約（直近 5 年の研究成果）

本研究室は、遺伝性腎疾患と小児腎疾患の診断および病態解明を中心に研究を行っています。対象となる主な疾患は、ネフローゼ症候群、アルポート症候群、ファンコーニ症候群、多発性嚢胞腎、および先天性腎尿路異常です。これらの疾患のうち、遺伝的背景をもつものについて、遺伝子検査とその臨床的意義を系統的に調査しています。研究方法としては、患者から採取した検体に対し次世代シークエンシングなどの分子遺伝学的手法を用いて病因遺伝子を同定しています。同時に、尿中タンパク質バイオマーカーの探索、腎生検組織の免疫染色、単一細胞の遺伝子発現解析、さらには異常スプライシングの機能検証など、多層的なアプローチを展開しています。また、患者集団の疫学調査や臨床レジストリの構築を通じ、遺伝型と表現型の相関を明らかにする取り組みも進めています。主な研究成果として、特定の遺伝子変異が引き起こす腎障害の進行パターンの解明、疾患の早期診断に有用なバイオマーカーの同定、および治療応答性の予測モデルの開発が挙げられます。これらの知見は、患者に対する個別化医療の実現を目指した基礎となっています。

※ 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] WCN26-1735 DEVELOPMENT AND EVALUATION OF THE FIRST POLYGENIC RISK SCORE FOR PEDIATRIC NEPHROTIC SYNDROME IN A JAPANESE COHORT
DOI: https://doi.org/10.1016/j.ekir.2026.105583
[2026] WCN26-3167 GENOTYPE–PHENOTYPE CORRELATION IN COENZYME Q10 NEPHROPATHY
DOI: https://doi.org/10.1016/j.ekir.2026.105095
[2026] WCN26-2907 HIGH-SENSITIVITY ANTI-NEPHRIN AUTOANTIBODY ASSAY PREDICTS STEROID RESISTANCE AND GLOMERULONEPHRITIS IN CHILDHOOD IDIOPATHIC NEPHROTIC SYNDROME
DOI: https://doi.org/10.1016/j.ekir.2026.105593
[2026] WCN26-1850 CLINICAL UTILITY OF WHOLE-GENOME SEQUENCING IN ALPORT SYNDROME: A CASE SERIES OF DEEP INTRONIC AND COPY NUMBER VARIANTS
DOI: https://doi.org/10.1016/j.ekir.2026.105085
[2026] WCN26-2384 A NOVEL AUTOMATED IMMUNOASSAY FOR ANTI-NEPHRIN AUTOANTIBODIES USING A MUTANT NEPHRIN ANTIGEN
DOI: https://doi.org/10.1016/j.ekir.2026.105587
[2026] WCN26-4425 Functional Evaluation of Non-canonical NPHS1 Splice Variants Using a Minigene Assay
DOI: https://doi.org/10.1016/j.ekir.2026.105118
[2026] WCN26-2624 CALCINEURIN INHIBITOR THERAPY AND CLINICAL RESPONSE IN WT1-RELATED DISORDERS
DOI: https://doi.org/10.1016/j.ekir.2026.105720
[2026] WCN26-7543 COMPARATIVE ANALYSIS OF SUBJECTIVE SYMPTOMS AND QUALITY OF LIFE IN GENETICALLY CONFIRMED GITELMAN SYNDROME AND PHENOTYPIC GITELMAN-LIKE PATIENTS WITHOUT PATHOGENIC VARIANTS
DOI: https://doi.org/10.1016/j.ekir.2026.103847
[2026] WCN26-2202 Functional analysis of a novel pathogenic glycine amidinotransferase mutant in hereditary Fanconi syndrome
DOI: https://doi.org/10.1016/j.ekir.2026.105087
[2026] WCN26-4279 ASSOCIATION BETWEEN IMMUNOLOGICAL STIMULI AND RELAPSE OF NEPHROTIC SYNDROME IN CHILDREN: A MULTICENTER PROSPECTIVE COHORT STUDY
DOI: https://doi.org/10.1016/j.ekir.2026.105605

続きを表示（残り 90 件）

[2026] ‘Missing’ disease-causing variants in Alport syndrome
DOI: https://doi.org/10.1038/s41581-026-01061-5
[2026] Membranous nephropathy secondary to very early-onset inflammatory bowel disease in a 3-year-old boy: case report
DOI: https://doi.org/10.1007/s13730-026-01116-3
[2026] Proteomic Discovery of Urinary Myoglobin as a Noninvasive Biomarker for PROCHOB caused by <i>CUBN</i> Variants
DOI: https://doi.org/10.64898/2026.03.26.26349155
[2026] Functional Analysis of a Novel Pathogenic Glycine Amidinotransferase Mutant in Hereditary Fanconi Syndrome
DOI: https://doi.org/10.1016/j.xkme.2026.101267
[2026] Whole-genome sequencing identified a deep intronic COL4A5 variant causing aberrant splicing in a female patient with X-linked Alport syndrome
DOI: https://doi.org/10.1007/s13730-025-01073-3
[2026] Pediatric coronavirus disease 2019 clinical characteristics in a primary emergency medical center: Comparative analysis of BA.1/BA.2, BA.5/BQ.1, and XBB periods
DOI: https://doi.org/10.1016/j.jiac.2026.102948
[2026] Genetic Screening of Patients With Inherited Fanconi Syndrome
DOI: https://doi.org/10.1016/j.ekir.2026.106576
[2026] A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis
DOI: https://doi.org/10.1007/s13730-026-01132-3
[2026] Clinical and functional evaluation of non-missense MYH9 variants in MYH9-related disease
DOI: https://doi.org/10.1007/s10157-026-02893-y
[2025] Potential involvement of abnormal splicing in severe WT1-related disorders
DOI: https://doi.org/10.1007/s10157-025-02715-7
[2025] Clinical use of the VNtyper-Kestrel pipeline for MUC1 variant detection in autosomal-dominant tubulointerstitial kidney disease
DOI: https://doi.org/10.1007/s10157-025-02675-y
[2025] Differences in kidney prognosis between congenital and infantile nephrotic syndrome
DOI: https://doi.org/10.1007/s00467-025-06735-z
[2025] Phenotype and genotype of autosomal dominant tubulointerstitial kidney disease in a Japanese cohort
DOI: https://doi.org/10.1007/s10157-025-02629-4
[2025] Comprehensive Splice Pattern Analysis for Previously Reported OCRL Splicing Variants and Their Phenotypic Contributions
DOI: https://doi.org/10.1016/j.ekir.2025.02.023
[2025] 12-Year-old girl with systemic lupus erythematosus complicated by gangrene and intermittent claudication
DOI: https://doi.org/10.1093/mrcr/rxaf006
[2025] A digest of clinical practice guideline for pediatric IgA vasculitis in Japan 2023
DOI: https://doi.org/10.3165/jjpn.sc.25-007
[2025] Clinical and Genetic Insights Into Isolated Proteinuria With CUBN Variants
DOI: https://doi.org/10.1016/j.ekir.2025.103754
[2025] Epidemiological characterization and clinical utility of the multiplex PCR FilmArray™ Gastrointestinal Panel at a tertiary university hospital in Japan, 2024
DOI: https://doi.org/10.1016/j.pedneo.2025.11.009
[2025] Rituximab-induced long-term remission in childhood-onset, uncomplicated, frequently relapsing or steroid-dependent nephrotic syndrome: a randomized, placebo-controlled trial and a follow-up study
DOI: https://doi.org/10.1038/s41598-025-19214-0
[2025] Genotype and Phenotype in Children with ADPKD-Related Gene Variants
DOI: https://doi.org/10.1681/asn.2025bfkd6z8v
[2025] Quality of Life and Symptoms in Gitelman Syndrome with and Without Pathogenic Variants
DOI: https://doi.org/10.1681/asn.2025xmn0yv0k
[2025] Clinical Features and Long-Term Outcomes of Idiopathic Nephrotic Syndrome with Diffuse Mesangial Hypercellularity
DOI: https://doi.org/10.1681/asn.2025ag714ybz
[2025] Latent Intrarenal Renin-Angiotensin-Aldosterone System Activation Could Persist Until Early School-Aged in Children with a History of Low Birth Weight
DOI: https://doi.org/10.1177/11772719251379198
[2025] Association Between Multicystic Dysplastic Kidney and the Local Renin–Angiotensin–Aldosterone System: A Pilot Study of a New Biomarker
DOI: https://doi.org/10.1111/nep.70132
[2025] Impact of Age-3 Urine Screening on Diagnosis and Treatment Timing in Alport Syndrome
DOI: https://doi.org/10.1016/j.ekir.2025.09.022
[2025] Investigation of clinical and genetic characteristics of Alport syndrome using a national registry in Japan (JP-ALPS)
DOI: https://doi.org/10.1007/s10157-025-02758-w
[2025] From Mild Proteinuria to Congenital Nephrotic Syndrome: Clinical Heterogeneity of NPHS1 Biallelic Variants in a Japanese Cohort
DOI: https://doi.org/10.1681/asn.202562epnssn
[2025] Co-localization of IgG with nephrin in immune-mediated idiopathic nephrotic syndrome
DOI: https://doi.org/10.1007/s10157-025-02741-5
[2025] Clinical characteristics of patients with SALL1-related disorder
DOI: https://doi.org/10.1007/s00467-025-06878-z
[2025] Prolonged hypokalemia long after causative factor elimination in pseudo-Bartter/Gitelman syndrome
DOI: https://doi.org/10.1007/s10157-025-02734-4
[2025] Relationship between clinical and pathologic findings and the presence of genetic variants in patients with steroid-resistant nephrotic syndrome
DOI: https://doi.org/10.1007/s00467-025-06842-x
[2025] The first case of Al-Raqad syndrome in Japan is associated with a homozygous DCPS exonic variant resulting in aberrant splicing
DOI: https://doi.org/10.1016/j.braindev.2025.104366
[2024] A case of pseudo-Bartter/Gitelman syndrome caused by long-term laxative abuse, leading to end-stage kidney disease
DOI: https://doi.org/10.1007/s13730-024-00851-9
[2024] Resurgence of Kawasaki Disease Following Relaxation of Coronavirus Disease 2019 Pandemic Restrictions in Japan
DOI: https://doi.org/10.1016/j.jpeds.2024.114251
[2024] Clinical, Pathological, and Genetic Characteristics of Patients with Digenic Alport Syndrome
DOI: https://doi.org/10.34067/kid.0000000000000547
[2024] Saline versus balanced crystalloids for hydration post-kidney biopsy
DOI: https://doi.org/10.1007/s00467-024-06594-0
[2024] COL4A5 Intronic Variants at Third to Fifth Nucleotides Cause Alport Syndrome
DOI: https://doi.org/10.1016/j.ekir.2024.11.016
[2024] Investigation of exon skipping therapy in kidney organoids from Alport syndrome patients derived <scp>iPSCs</scp>
DOI: https://doi.org/10.1111/gtc.13170
[2024] Clinical and Genetic Differences between Congenital and Infantile Nephrotic Syndrome
DOI: https://doi.org/10.1681/asn.2024tw2cmxj8
[2024] Co-localization of IgG with Nephrin in Immune-Mediated Idiopathic Nephrotic Syndrome
DOI: https://doi.org/10.1681/asn.2024d54w4s2j
[2024] Prolonged Hypokalemia Long after Causative Factor Elimination in Pseudo-Bartter/Gitelman Syndrome
DOI: https://doi.org/10.1681/asn.20245zn2j6p2
[2024] An Increase in TCR/BCR Repertoire Clonality by Prednisolone Therapy and Recovery of the Diversity by Rituximab in Childhood Idiopathic Nephrotic Syndrome
DOI: https://doi.org/10.1681/asn.2024hss3tsg2
[2024] Importance of 3-Year-Old Urinalysis in Diagnosing Alport Syndrome
DOI: https://doi.org/10.1681/asn.2024c96eh9x2
[2024] Role of Angiotensinogen in Children with a History of Preterm Birth and Nephron Hypertrophy
DOI: https://doi.org/10.1681/asn.20248yahe9g2
[2024] Genotype and X-chromosome inactivation are associated with disease severity in females with X-linked Alport syndrome
DOI: https://doi.org/10.1093/ndt/gfae182
[2024] MYH9-related disease with a normal platelet count
DOI: https://doi.org/10.1007/s13730-024-00922-x
[2024] In steroid-resistant nephrotic syndrome that meets the strict definition, monogenic variants are less common than expected
DOI: https://doi.org/10.1007/s00467-024-06468-5
[2024] Evaluation of pathogenicity of WT1 intron variants by in vitro splicing analysis
DOI: https://doi.org/10.1007/s10157-024-02510-w
[2024] Clinical characteristics and outcomes of immune-complex membranoproliferative glomerulonephritis and C3 glomerulopathy in Japanese children
DOI: https://doi.org/10.1007/s00467-024-06377-7
[2024] Trimerization profile of type IV collagen COL4A5 exon deletion in X-linked Alport syndrome
DOI: https://doi.org/10.1007/s10157-024-02503-9
[2024] Nephronophthisis 13 caused by WDR19 variants with pancytopenia: case report
DOI: https://doi.org/10.1007/s13730-024-00871-5
[2024] Role of Iron in Children With Immunoglobulin A Nephropathy and Macrohematuria-Induced Acute Kidney Injury
DOI: https://doi.org/10.1016/j.ekir.2024.03.003
[2024] Immunohistological analysis reveals IgG1-dominant immunophenotype of tubulointerstitial nephritis unassociated with IgG4-related diseases
DOI: https://doi.org/10.1007/s11255-024-03966-1
[2024] Significance of Serum Leucine-rich Alpha-2 Glycoprotein as a Diagnostic Marker in Pediatric Inflammatory Bowel Disease.
DOI: https://doi.org/10.24546/0100486228
[2024] Outcome of immunosuppression in children with IgA vasculitis–related nephritis
DOI: https://doi.org/10.1093/ndt/gfae009
[2023] 4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
DOI: https://doi.org/10.1155/2023/4592114
[2023] Rituximab in combination with cyclosporine and steroid pulse therapy for childhood-onset multidrug-resistant nephrotic syndrome: a multicenter single-arm clinical trial (JSKDC11 trial)
DOI: https://doi.org/10.1007/s10157-023-02431-0
[2023] Anti-Nephrin Antibodies in Idiopathic Nephrotic Syndrome in Japanese Children
DOI: https://doi.org/10.1681/asn.20233411s1583c
[2023] Clinical Features and Genotype-Phenotype Correlation of Bartter Syndrome Type 1 and 2
DOI: https://doi.org/10.1681/asn.20233411s1570a
[2023] Aberrant Splicing Caused by Intronic Variants Positioned at Third to Fifth Nucleotides in COL4A5
DOI: https://doi.org/10.1681/asn.20233411s1217d
[2023] Five Cases with MAFB Variants
DOI: https://doi.org/10.1681/asn.20233411s1219a
[2023] iPSC-derived type IV collagen α5-expressing kidney organoids model Alport syndrome
DOI: https://doi.org/10.1038/s42003-023-05203-4
[2023] Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease
DOI: https://doi.org/10.1016/j.ekir.2023.06.019
[2023] Long-term outcome of combination therapy with corticosteroids, mizoribine and RAS inhibitors as initial therapy for severe childhood IgA vasculitis with nephritis
DOI: https://doi.org/10.1007/s00467-023-06052-3
[2023] #3670 THE ROLE OF CALCINEURIN INHIBITORS IN MONOGENIC PEDIATRIC STEROID RESISTANT NEPHROTIC SYNDROME: A RETROSPECTIVE, MULTICENTER STUDY
DOI: https://doi.org/10.1093/ndt/gfad063b_3670
[2023] All reported non-canonical splice site variants in GLA cause aberrant splicing
DOI: https://doi.org/10.1007/s10157-023-02361-x
[2023] IgA nephropathy in a boy with frequently relapsing nephrotic syndrome
DOI: https://doi.org/10.1007/s13730-023-00791-w
[2023] A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants
DOI: https://doi.org/10.1016/j.kint.2023.02.022
[2023] Steroid resistant nephrotic syndrome with collapsing focal segmental glomerulosclerosis in a 12-year-old Japanese female after SARS-CoV-2 vaccination
DOI: https://doi.org/10.1007/s40620-023-01577-0
[2022] Use of renin-angiotensin system inhibitors as initial therapy in children with Henoch–Schönlein purpura nephritis of moderate severity
DOI: https://doi.org/10.1007/s00467-021-05395-z
[2022] Clinical and pathological investigation of oligomeganephronia
DOI: https://doi.org/10.1007/s00467-022-05687-y
[2022] Detecting pathogenic deep intronic variants in <scp>Gitelman</scp> syndrome
DOI: https://doi.org/10.1002/ajmg.a.62885
[2022] Clinical, Pathological, and Genetic Characteristics in Patients with Focal Segmental Glomerulosclerosis
DOI: https://doi.org/10.34067/kid.0000812022
[2022] Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population
DOI: https://doi.org/10.1038/s10038-022-01020-5
[2022] Efficacy of combination therapy for childhood complicated focal IgA nephropathy
DOI: https://doi.org/10.1007/s10157-022-02190-4
[2022] Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene
DOI: https://doi.org/10.1007/s10157-022-02294-x
[2022] Investigation of the Pathogenicity of Novel Missense Variants in the ARHGAP24 Gene by Quantitative Analysis of the Active Rac1: Two Cases of Proteinuria With Renal Dysfunction
DOI: https://doi.org/10.1681/asn.20223311s1445c
[2022] Aberrant Splicing Affected by Single Nucleotide Variants Positioned at the Second and Third to the End of Exons in COL4A5 Gene
DOI: https://doi.org/10.1681/asn.20223311s1759b
[2022] Biallelic Variants in NUP85 Causes Pediatric Steroid Resistant Nephrotic Syndrome
DOI: https://doi.org/10.1681/asn.20223311s1753c
[2022] Is influenza vaccination associated with nephrotic syndrome relapse in children? A multicenter prospective study
DOI: https://doi.org/10.1007/s00467-022-05783-z
[2022] Twelve-Year-Old Girl With Steroid Resistant Nephrotic Syndrome With Collapsing Focal Segmental Glomerulosclerosis After COVID-19 Vaccination
DOI: https://doi.org/10.1681/asn.20223311s1337b
[2022] Multi-Population Meta-Analysis Highlights the Role of Immune Dysregulation in Pediatric Steroid-Sensitive Nephrotic Syndrome
DOI: https://doi.org/10.1681/asn.20223311s1407d
[2022] Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease
DOI: https://doi.org/10.1016/j.ekir.2021.12.037
[2022] All Reported Non-Canonical Splice Site Variants in GLA Cause Aberrant Splicing
DOI: https://doi.org/10.2139/ssrn.4282750
[2022] 森田賞　《臨床研究部門》　辻ゆり佳
DOI: https://doi.org/10.3165/jjpn.2022.3007
[2021] Clear Evidence of LAMA5 Gene Biallelic Truncating Variants Causing Infantile Nephrotic Syndrome
DOI: https://doi.org/10.34067/kid.0004952021
[2021] Evaluation of Suspected Autosomal Alport Syndrome Synonymous Variants
DOI: https://doi.org/10.34067/kid.0005252021
[2021] Examination of the Predicted Prevalence of Gitelman Syndrome by Ethnicity Based on Genome Databases
DOI: https://doi.org/10.1681/asn.20213210s1424a
[2021] BCS1L mutations produce Fanconi syndrome with developmental disability
DOI: https://doi.org/10.1038/s10038-021-00984-0
[2021] Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing
DOI: https://doi.org/10.1016/j.ekir.2021.10.012

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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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