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Shinya Ishiko · SciRah

Researcher profile · Semantic Scholar

Shinya Ishiko

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Shinya Ishiko — researcher profile on SciRah

h-index: 15
Works: 53
Citations: 757

Most-cited papers

Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome.
Tomohiko Yamamura, T. Horinouchi, C. Nagano, Takashi Omori +16 more
2020Kidney International93 citations Open access
Semantic Scholar
Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5
Tomohiko Yamamura, T. Horinouchi, Tomomi Adachi, M. Terakawa +28 more
2020Nature Communications89 citations Open access
Semantic Scholar
Comprehensive genetic diagnosis of Japanese patients with severe proteinuria
C. Nagano, Tomohiko Yamamura, T. Horinouchi, Yuya Aoto +7 more
2020Scientific Reports74 citations Open access
Semantic Scholar
Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome
Xiaoyuan Jia, Tomohiko Yamamura, R. Gbadegesin, M. McNulty +213 more
2020Kidney International57 citations Open access
Semantic Scholar
Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases
Atsushi Kondo, C. Nagano, Shinya Ishiko, Takashi Omori +16 more
2021Scientific Reports38 citations Open access
Semantic Scholar
Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome
Tomohiko Yamamura, K. Nozu, Shogo Minamikawa, T. Horinouchi +14 more
2019Molecular Genetics & Genomic Medicine36 citations Open access
Semantic Scholar
Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing
Yuya Aoto, T. Horinouchi, Tomohiko Yamamura, Atsushi Kondo +13 more
2021Kidney International Reports35 citations Open access
Semantic Scholar
Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay
T. Horinouchi, K. Nozu, Tomohiko Yamamura, Shogo Minamikawa +13 more
2019Scientific Reports24 citations Open access
Semantic Scholar
Detecting MUC1 variants in patients clinicopathologically diagnosed with ADTKD
Eri Okada, N. Morisada, T. Horinouchi, Hideki Fujii +22 more
2022Kidney International Reports22 citations Open access
Semantic Scholar
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population
N. Sakakibara, K. Nozu, Tomohiko Yamamura, T. Horinouchi +12 more
2022Journal of Human Genetics21 citations Open access
Semantic Scholar
Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome
Yurika Tsuji, Tomohiko Yamamura, C. Nagano, T. Horinouchi +16 more
2021Kidney International Reports21 citations Open access
Semantic Scholar
Genotype-Phenotype Correlation in WT1 Exon 8 to 9 Missense Variants
C. Nagano, Yutaka Takaoka, Koichi Kamei, R. Hamada +16 more
2021Kidney International Reports21 citations Open access
Semantic Scholar
Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay
T. Horinouchi, Tomohiko Yamamura, Shogo Minamikawa, C. Nagano +14 more
2020Molecular Genetics & Genomic Medicine21 citations Open access
Semantic Scholar
Clinical, Pathological, and Genetic Characteristics in Patients with Focal Segmental Glomerulosclerosis
C. Nagano, S. Hara, N. Yoshikawa, A. Takeda +24 more
2022Kidney36015 citations Open access
Semantic Scholar
Impact of the State of Emergency during the COVID-19 Pandemic in 2020 on Asthma Exacerbations among Children in Kobe City, Japan
H. Yamaguchi, K. Nozu, Shinya Ishiko, Atsushi Kondo +9 more
2021International Journal of Environmental Research and Public Health15 citations Open access
Semantic Scholar
Glomerular galactose-deficient IgA1 expression analysis in pediatric patients with glomerular diseases
Shinya Ishiko, T. Horinouchi, R. Fujimaru, Yuko Shima +17 more
2020Scientific Reports15 citations Open access
Semantic Scholar
Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1
Tomohiko Inoue, C. Nagano, M. Matsuo, Tomohiko Yamamura +10 more
2020Clinical and Experimental Nephrology15 citations Open access
Semantic Scholar
Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2
N. Sakakibara, C. Nagano, Shinya Ishiko, T. Horinouchi +8 more
2020Pediatric nephrology (Berlin, West)14 citations Open access
Semantic Scholar
Clear Evidence of LAMA5 Gene Biallelic Truncating Variants Causing Infantile Nephrotic Syndrome
Yukimasa Taniguchi, C. Nagano, K. Sekiguchi, Atsushi Tashiro +15 more
2021Kidney36013 citations Open access
Semantic Scholar
Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes
Shinya Ishiko, N. Morisada, Atsushi Kondo, Sadayuki Nagai +15 more
2021Clinical and Experimental Nephrology12 citations Open access
Semantic Scholar
X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay
Rini Rossanti, K. Nozu, A. Fukunaga, C. Nagano +14 more
2020Clinical and Experimental Nephrology11 citations Open access
Semantic Scholar
Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease
Ryota Suzuki, N. Sakakibara, Yuta Ichikawa, Hideaki Kitakado +11 more
2023Kidney International Reports9 citations Open access
Semantic Scholar
Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
N. Sakakibara, T. Ijuin, T. Horinouchi, Tomohiko Yamamura +26 more
2021Nephrology, Dialysis and Transplantation9 citations
Semantic Scholar
All reported non-canonical splice site variants in GLA cause aberrant splicing
Eri Okada, T. Horinouchi, Tomohiko Yamamura, Yuya Aoto +14 more
2023Clinical and Experimental Nephrology8 citations Open access
Semantic Scholar
Multivariate analysis of the impact of weather and air pollution on emergency department visits for night-time headaches among children: retrospective, clinical observational study
H. Yamaguchi, K. Nozu, Shinya Ishiko, Hiroaki Nagase +8 more
2021BMJ Open8 citations Open access
Semantic Scholar
Multivariate analysis of the impact of weather and air pollution on emergency department visits for unprovoked seizure among children: A retrospective clinical observational study.
H. Yamaguchi, K. Nozu, Shinya Ishiko, Atsushi Kondo +8 more
2021Epilepsy & Behavior8 citations Open access
Semantic Scholar
Genotype and X-chromosome inactivation are associated with disease severity in females with X-linked Alport syndrome.
Ryota Suzuki, N. Sakakibara, Sae Murakami, Yuta Ichikawa +13 more
2024Nephrology, Dialysis and Transplantation7 citations
Semantic Scholar
Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease
Eri Okada, N. Morisada, T. Horinouchi, Hideki Fujii +22 more
2022Kidney International Reports6 citations Open access
Semantic Scholar
Use of renin-angiotensin system inhibitors as initial therapy in children with Henoch–Schönlein purpura nephritis of moderate severity
Sadayuki Nagai, T. Horinouchi, T. Ninchoji, Atsushi Kondo +15 more
2022Pediatric nephrology (Berlin, West)6 citations Open access
Semantic Scholar
Heterozygous Urinary Abnormality-Causing Variants of COL4A3 and COL4A4 Affect Severity of Autosomal Recessive Alport Syndrome.
T. Horinouchi, Tomohiko Yamamura, C. Nagano, N. Sakakibara +8 more
2020Kidney3606 citations Open access
Semantic Scholar
Clinical and Genetic Insights Into Isolated Proteinuria With CUBN Variants
N. Sakakibara, Shinya Ishiko, Yuriko Tanaka, Y. Inoki +14 more
2025Kidney International Reports5 citations Open access
Semantic Scholar
Detecting pathogenic deep intronic variants in Gitelman syndrome
Rini Rossanti, T. Horinouchi, N. Sakakibara, Tomohiko Yamamura +10 more
2022American Journal of Medical Genetics. Part A5 citations
Semantic Scholar
Evaluation of Suspected Autosomal Alport Syndrome Synonymous Variants
Rini Rossanti, T. Horinouchi, Tomohiko Yamamura, C. Nagano +18 more
2021Kidney3605 citations Open access
Semantic Scholar
A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome
Yuya Aoto, Kise Tomoo, K. Nakanishi, C. Nagano +8 more
2020CEN Case Reports4 citations Open access
Semantic Scholar
Epidemiological impact of universal varicella vaccination on consecutive emergency department visits for varicella and its economic impact among children in Kobe City, Japan.
H. Yamaguchi, K. Nozu, Shinya Ishiko, Hiroaki Nagase +8 more
2021Journal of Infection and Chemotherapy3 citations Open access
Semantic Scholar
Retrospective analysis of high-dose chemotherapy followed by autologous stem cell transplantation for high-risk pediatric osteosarcoma
Suguru Uemura, Takeshi Mori, Shinya Ishiko, Satoru Takafuji +8 more
2020Pediatric Hematology & Oncology3 citations
Semantic Scholar
Utility of glomerular Gd-IgA1 staining for indistinguishable cases of IgA nephropathy or Alport syndrome
Shinya Ishiko, A. Tanaka, A. Takeda, M. Hara +17 more
2021Clinical and Experimental Nephrology2 citations Open access
Semantic Scholar
Efficacy of combination therapy for childhood complicated focal IgA nephropathy
Yuya Aoto, T. Ninchoji, H. Kaito, Yuko Shima +17 more
2022Clinical and Experimental Nephrology1 citations Open access
Semantic Scholar
Current management for foreign body and toxic agent ingestion in a paediatric primary emergency centre.
T. Ninchoji, K. Nozu, Atsushi Kondo, Shinya Ishiko +9 more
2021Minerva Pediatrica1 citations Open access
Semantic Scholar
Respiratory Viral Positivity, C-Reactive Protein Levels, and Lumbar Puncture and Antibiotic Use in Well-Appearing Febrile Infants ≤ 60 Days.
Hiroyuki Nagao, Kazuhiro Yamamoto, Shinya Ishiko, Tadashi Shinomoto +3 more
2026Acta paediatrica0 citations Open access
Semantic Scholar
WCN26-4279 ASSOCIATION BETWEEN IMMUNOLOGICAL STIMULI AND RELAPSE OF NEPHROTIC SYNDROME IN CHILDREN: A MULTICENTER PROSPECTIVE COHORT STUDY
Shingo Ishimori, Shinya Ishiko, Y. Kaku, Koichi Kamei +10 more
2026Kidney International Reports0 citations Open access
Semantic Scholar
Association Between Multicystic Dysplastic Kidney and the Local Renin–Angiotensin–Aldosterone System: A Pilot Study of a New Biomarker
Shingo Ishimori, Shinya Ishiko, Junya Fujimura, Asahi Yamamoto +13 more
2025Nephrology0 citations
Semantic Scholar
Latent Intrarenal Renin-Angiotensin-Aldosterone System Activation Could Persist Until Early School-Aged in Children with a History of Low Birth Weight
Shingo Ishimori, Shinya Ishiko, Junya Fujimura, Shuhei Aoyama +10 more
2025Biomarker Insights0 citations Open access
Semantic Scholar
Clinical Features and Genotype-Phenotype Correlation of Bartter Syndrome Type 1 and 2
Atsushi Kondo, Y. Inoki, Yuta Ichikawa, Yuriko Tanaka +8 more
2023Journal of the American Society of Nephrology0 citations
Semantic Scholar
Corrigendum to “Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease”Kidney International Reports, Volume 7, Issue 4, April 2022, Pages 857-866.
Eri Okada, N. Morisada, T. Horinouchi, Hideki Fujii +22 more
2023Kidney International Reports0 citations Open access
Semantic Scholar
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
Atsushi Kondo, C. Nagano, Hideaki Kitakado, Chika Masuda +7 more
2022Journal of the American Society of Nephrology0 citations
Semantic Scholar
Biallelic Variants in NUP85 Causes Pediatric Steroid Resistant Nephrotic Syndrome
Rini Rossanti, D. Hilmanto, T. Horinouchi, N. Sakakibara +7 more
2022Journal of the American Society of Nephrology0 citations
Semantic Scholar
Correction to: Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1
Tomohiko Inoue, C. Nagano, M. Matsuo, Tomohiko Yamamura +10 more
2021Clinical and Experimental Nephrology0 citations Open access
Semantic Scholar
Elucidation of Molecular Pathogenesis of Lowe Syndrome and Dent Disease Type 2
N. Sakakibara, K. Nozu, Shinya Ishiko, Yuya Aoto +5 more
2020Journal of the American Society of Nephrology0 citations
Semantic Scholar
LAMA5 Gene Mutations in Japanese Cases with Infantile Nephrotic Syndrome
C. Nagano, K. Nozu, Shinya Ishiko, Yuya Aoto +5 more
2020Journal of the American Society of Nephrology0 citations
Semantic Scholar

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K. Nozu×48
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K. Nozu — researcher profile on SciRah
C. Nagano×45
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C. Nagano — researcher profile on SciRah
T. Horinouchi×43
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T. Horinouchi — researcher profile on SciRah
Tomohiko Yamamura×42
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Tomohiko Yamamura — researcher profile on SciRah

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N. Sakakibara — researcher profile on SciRah

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K. Iijima — researcher profile on SciRah

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Yuya Aoto — researcher profile on SciRah

Rini Rossanti×24

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Rini Rossanti — researcher profile on SciRah

Atsushi Kondo×24

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Atsushi Kondo — researcher profile on SciRah

Shingo Ishimori×22

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Shingo Ishimori — researcher profile on SciRah

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Yuko Shima — researcher profile on SciRah

Hiroaki Nagase×20

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Hiroaki Nagase — researcher profile on SciRah