Tomohiko Yamamura

发表

The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome

K. Nozu, R. Lennon, Tomohiko Yamamura, 2022, Frontiers in Medicine.

Efficacy of combination therapy for childhood complicated focal IgA nephropathy

K. Nakanishi, N. Yoshikawa, K. Nozu, 2022, Clinical and Experimental Nephrology.

Comprehensive genetic diagnosis of Japanese patients with severe proteinuria

K. Nakanishi, K. Nozu, K. Iijima, 2020, Scientific Reports.

Genetic background, recent advances in molecular biology, and development of novel therapy in Alport syndrome

H. Kai, M. Takasato, K. Nozu, 2020, Kidney research and clinical practice.

Efficacy of combination therapy for childhood complicated focal IgA nephropathy

K. Nakanishi, N. Yoshikawa, K. Nozu, 2022, Clinical and Experimental Nephrology.

Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes

M. Matsuo, K. Nakanishi, K. Nozu, 2021, Clinical and Experimental Nephrology.

Clinical characteristics of HNF1B-related disorders in a Japanese population

S. Ito, M. Hattori, K. Nozu, 2019, Clinical and Experimental Nephrology.

Clinical and histological features in pediatric and adolescent/young adult patients with renal disease: a cross-sectional analysis of the Japan Renal Biopsy Registry (J-RBR)

A. Nakashima, Yusuke Suzuki, Tetsuhiro Tanaka, 2021, Clinical and Experimental Nephrology.

Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2

K. Nakanishi, K. Nozu, K. Iijima, 2020, Pediatric Nephrology.

Heterozygous Urinary Abnormality-Causing Variants of COL4A3 and COL4A4 Affect Severity of Autosomal Recessive Alport Syndrome.

K. Nakanishi, K. Nozu, K. Iijima, 2020, Kidney360.

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.

K. Nakanishi, N. Yoshikawa, K. Nozu, 2016, Clinical journal of the American Society of Nephrology : CJASN.

The utility of urinary CD80 as a diagnostic marker in patients with renal diseases

K. Nozu, K. Iijima, H. Kaito, 2018, Scientific Reports.

Evaluation of Suspected Autosomal Alport Syndrome Synonymous Variants

M. Matsuo, K. Nakanishi, Y. Ubara, 2021, Kidney360.

Utility of glomerular Gd-IgA1 staining for indistinguishable cases of IgA nephropathy or Alport syndrome

K. Nakanishi, N. Yoshikawa, A. Tanaka, 2021, Clinical and Experimental Nephrology.

A review of clinical characteristics and genetic backgrounds in Alport syndrome

K. Nakanishi, M. Nagata, K. Nozu, 2018, Clinical and Experimental Nephrology.

A birth of bipartite exon by intragenic deletion

J. Královičová, I. Vořechovský, K. Nakanishi, 2017, Molecular genetics & genomic medicine.

Cryptic exon activation in SLC12A3 in Gitelman syndrome

I. Vořechovský, K. Nakanishi, K. Nozu, 2016, Journal of Human Genetics.

Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing

M. Yasui, H. Nishio, K. Nakanishi, 2017, Clinical and Experimental Nephrology.

A Novel Mutation in a Japanese Family with X-linked Alport Syndrome

Y. Yamaguchi, K. Nozu, K. Iijima, 2016, Internal medicine.

Clinical and Genetic Characteristics in Patients With Gitelman Syndrome

K. Nakanishi, K. Miyako, K. Nozu, 2018, Kidney international reports.

Detecting pathogenic deep intronic variants in Gitelman syndrome

M. Matsuo, H. Awano, K. Nozu, 2022, American journal of medical genetics. Part A.

Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases

K. Nozu, K. Iijima, Y. Nozu, 2018, Clinical and Experimental Nephrology.

TGFBI-associated corneal dystrophy and nephropathy: a novel syndrome?

N. Yoshikawa, K. Nozu, K. Iijima, 2018, CEN Case Reports.

Pair analysis and custom array CGH can detect a small copy number variation in COQ6 gene

T. Ariga, K. Nozu, K. Iijima, 2018, Clinical and Experimental Nephrology.

Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19

T. Toki, E. Ito, M. Matsuo, 2021, Pediatric hematology and oncology.

Functional splicing analysis in an infantile case of atypical hemolytic uremic syndrome caused by digenic mutations in C3 and MCP genes

M. Nangaku, T. Miyata, M. Matsuo, 2018, Journal of Human Genetics.

Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome.

K. Nakanishi, T. Omori, K. Nozu, 2020, Kidney international.

Kobe University Repository : Kernel タイトル Tit le Natural History and Genotype-Phenotype Correlat ion in Female X-Linked Alport Syndrome

K. Nakanishi, N. Yoshikawa, K. Nozu, 2018 .

Natural History and Genotype–Phenotype Correlation in Female X-Linked Alport Syndrome

K. Nakanishi, N. Yoshikawa, K. Nozu, 2017, Kidney international reports.

Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene

K. Yamagata, K. Nozu, K. Iijima, 2022, Clinical and Experimental Nephrology.

A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome

K. Nakanishi, K. Nozu, K. Iijima, 2020, CEN Case Reports.

Poststreptococcal acute glomerulonephritis can be a risk factor for accelerating kidney dysfunction in Alport syndrome: a case experience

K. Nozu, K. Iijima, Tomohiko Yamamura, 2020, CEN Case Reports.

Trimerization and Genotype–Phenotype Correlation of COL4A5 Mutants in Alport Syndrome

M. Suico, T. Shuto, H. Kai, 2020, Kidney international reports.

Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome

K. Nakanishi, K. Nozu, K. Iijima, 2019, Molecular genetics & genomic medicine.

A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series

M. Matsuo, Jinghong Zhao, Jing Wu, 2021, BMC Nephrology.

FAT1 biallelic truncating mutation causes a non-syndromic proteinuria in a child

K. Nozu, K. Iijima, Tomohiko Yamamura, 2020, CEN Case Reports.

Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome

M. Matsuo, K. Nakanishi, K. Nozu, 2021, Kidney international reports.

Both the rituximab dose and maintenance immunosuppression in steroid-dependent/frequently-relapsing nephrotic syndrome have important effects on outcomes.

A. Sinha, A. Bagga, G. Ghiggeri, 2019, Kidney international.

Diagnostic strategy for inherited hypomagnesemia

K. Nakanishi, K. Nozu, K. Iijima, 2017, Clinical and Experimental Nephrology.

Changes in the numbers of patients with acute gastroenteritis after voluntary introduction of the rotavirus vaccine in a Japanese children’s primary emergency medical center

Noriyuki Nishimura, K. Nozu, K. Iijima, 2017, Environmental Health and Preventive Medicine.

BCS1L mutations produce Fanconi syndrome with developmental disability

K. Yoshiura, K. Kosaki, K. Murayama, 2021, Journal of Human Genetics.

Three Severe Cases of Viral Infections with Post-Kidney Transplantation Successfully Confirmed by Polymerase Chain Reaction and Flow Cytometry

K. Nozu, K. Iijima, H. Kaito, 2018, Case Reports in Nephrology and Dialysis.

Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases

K. Nakanishi, T. Omori, K. Nozu, 2021, Scientific Reports.

Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo–Bartter/Gitelman syndrome based on clinical characteristics

K. Nakanishi, N. Yoshikawa, K. Nozu, 2015, Genetics in Medicine.

Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome.

M. Nagasaki, K. Tokunaga, M. Matsuo, 2020, Kidney international.

The safety and efficacy of combination therapy of cyclosporine A and mizoribine for children with frequently relapsing steroid-dependent nephrotic syndrome.

H. Eguchi, Tomohiko Yamamura, B. Akikusa, 2015 .

X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay

S. Maruyama, S. Nishi, K. Nozu, 2020, Clinical and Experimental Nephrology.

Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease

K. Nakanishi, K. Nozu, K. Iijima, 2018, Journal of Human Genetics.

Clinical and genetic variability of PAX2-related disorder in the Japanese population

S. Ito, K. Nozu, K. Iijima, 2020, Journal of Human Genetics.

Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing

M. Matsuo, K. Nakanishi, H. Awano, 2021, Kidney International Reports.

Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease

K. Yamagata, K. Nozu, K. Iijima, 2022, Kidney international reports.

Detecting MUC1 variants in patients clinicopathologically diagnosed with ADTKD

K. Yamagata, K. Nozu, K. Iijima, 2022, Kidney International Reports.

An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis

M. Matsuo, K. Nakanishi, K. Nozu, 2017, BMC Nephrology.

Kobe University Repository : Kernel タイトル Tit le Funct ional analysis of suspected splicing variants in CLCN 5 gene in Dent disease 1 著者

M. Matsuo, Y. Shibagaki, K. Nozu, 2021 .

Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1

M. Matsuo, Y. Shibagaki, K. Nozu, 2020, Clinical and Experimental Nephrology.

Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay

M. Matsuo, K. Nakanishi, K. Nozu, 2019, Scientific Reports.

Molecular mechanisms determining severity in patients with Pierson syndrome

K. Nakanishi, M. Nagata, N. Yoshikawa, 2020, Journal of Human Genetics.

A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.

M. Matsuo, K. Nakanishi, H. Awano, 2017, European journal of medical genetics.

Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome

M. Matsuo, K. Asanuma, M. Hattori, 2019, Journal of Human Genetics.

Clinical spectrum of male patients with OFD1 mutations

K. Nakanishi, K. Nozu, K. Iijima, 2018, Journal of Human Genetics.

Inherited salt‐losing tubulopathy: An old condition but a new category of tubulopathy

K. Nozu, K. Iijima, Tomohiko Yamamura, 2019, Pediatrics international : official journal of the Japan Pediatric Society.

Use of renin-angiotensin system inhibitors as initial therapy in children with Henoch–Schönlein purpura nephritis of moderate severity

K. Nakanishi, N. Yoshikawa, K. Nozu, 2022, Pediatric Nephrology.

Is influenza vaccination associated with nephrotic syndrome relapse in children? A multicenter prospective study

K. Nozu, K. Iijima, Tomohiko Yamamura, 2022, Pediatric nephrology (Berlin, West).

Clinical characteristics and long-term outcome of diarrhea-associated hemolytic uremic syndrome: a single center experience

K. Nakanishi, N. Yoshikawa, K. Nozu, 2017, Clinical and Experimental Nephrology.

The utility of urinary CD80 as a diagnostic marker in patients with renal diseases

K. Nozu, K. Iijima, H. Kaito, 2018, Scientific Reports.

Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5

H. Kai, M. Matsuo, M. Takasato, 2020, Nature Communications.

Mycophenolate Mofetil after Rituximab for Childhood-Onset Complicated Frequently-Relapsing or Steroid-Dependent Nephrotic Syndrome

K. Nakanishi, S. Ito, Hidefumi Nakamura, 2021, Journal of the American Society of Nephrology : JASN.

Clinical, Pathological, and Genetic Characteristics in Patients with Focal Segmental Glomerulosclerosis

S. Ito, K. Matsuoka, N. Yoshikawa, 2022, Kidney360.

Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population

M. Matsuo, K. Nakanishi, N. Okamoto, 2022, Journal of Human Genetics.

Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.

M. Matsuo, K. Nakanishi, M. Kawano, 2018, Journal of the American Society of Nephrology : JASN.

Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay

M. Matsuo, K. Nakanishi, K. Nozu, 2020, Molecular genetics & genomic medicine.

Genotype-Phenotype Correlation in WT1 Exon 8 to 9 Missense Variants

K. Nozu, K. Iijima, Tomohiko Yamamura, 2021, Kidney international reports.

Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin Deposits

M. Matsuo, K. Nozu, K. Iijima, 2017, Nephron.

Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis

I. Vořechovský, K. Nakanishi, M. Yanagita, 2017, Journal of Human Genetics.

Functional splicing analysis in an infantile case of atypical hemolytic uremic syndrome caused by digenic mutations in C3 and MCP genes

M. Nangaku, T. Miyata, M. Matsuo, 2018, Journal of Human Genetics.

Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease

K. Nozu, Tomohiko Yamamura, T. Okamoto, 2023, Kidney international reports.

Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome

K. Nozu, K. Iijima, H. Kaito, 2018, Journal of Human Genetics.

Comprehensive genetic diagnosis of Japanese patients with severe proteinuria

K. Nakanishi, K. Nozu, K. Iijima, 2020, Scientific Reports.

Clear Evidence of LAMA5 Gene Biallelic Truncating Variants Causing Infantile Nephrotic Syndrome

K. Sekiguchi, J. Miner, K. Nozu, 2021, Kidney360.

Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome

K. Nozu, K. Iijima, H. Kaito, 2018, Journal of Human Genetics.

All reported non-canonical splice site variants in GLA cause aberrant splicing

K. Yamagata, K. Nozu, J. Usui, 2023, Clinical and Experimental Nephrology.

Study on 10 heavy proteinuria cases of HSPN with good susceptibility toward combination therapy

H. Eguchi, Tomohiko Yamamura, B. Akikusa, 2012 .

Glomerular galactose-deficient IgA1 expression analysis in pediatric patients with glomerular diseases

K. Nakanishi, N. Yoshikawa, K. Nozu, 2020, Scientific Reports.

Female X-linked Alport syndrome with somatic mosaicism

K. Nakanishi, K. Nozu, K. Iijima, 2017, Clinical and Experimental Nephrology.

Matrikines in kidney ageing and age-related disease

R. Lennon, Tomohiko Yamamura, A. Eckersley, 2023, Current opinion in nephrology and hypertension.

iPSC-derived type IV collagen α5-expressing kidney organoids model Alport syndrome

K. Osafune, K. Nozu, K. Iijima, 2023, Communications biology.

Kobe University Repository : Kernel タイトル Tit le A review of clinical characterist ics and genet ic backgrounds in Alport syndrome

K. Nakanishi, M. Nagata, K. Nozu, 2020 .

Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome

M. Matsuo, K. Asanuma, M. Hattori, 2019, Journal of Human Genetics.