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List of works by Koichi Nakanishi

A birth of bipartite exon by intragenic deletion

scientific article

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

scientific article published on 16 April 2020

A novel nonsense mutation in a patient with intractable epilepsy and cardiac malformation

scientific article published on 13 May 2019

A review of clinical characteristics and genetic backgrounds in Alport syndrome.

scientific article published on 20 August 2018

Aberrant Smad3 phosphoisoforms in cyst-lining epithelial cells in the cpk mouse, a model of autosomal recessive polycystic kidney disease

scientific article

Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.

scientific article published on 15 March 2018

Alport-like glomerular basement membrane changes with renal-coloboma syndrome ⬇️

scientific article published on February 21, 2012

Association between low birth weight and childhood-onset chronic kidney disease in Japan: a combined analysis of a nationwide survey for paediatric chronic kidney disease and the National Vital Statistics Report

scientific article published on 29 December 2015

Bartter syndrome type 3 in an elderly complicated with adrenocorticotropin-deficiency

scientific article published on 24 June 2014

Biopsy timing and Oxford classification variables in childhood/adolescent IgA nephropathy

scientific article published on 07 June 2014

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

scientific article published on 9 March 2017

Clinical practice guideline for pediatric idiopathic nephrotic syndrome 2013: medical therapy

scientific article

Clinical spectrum of male patients with OFD1 mutations

article

Clinicopathological significance of glomerular capillary IgA deposition in childhood IgA nephropathy

scientific article published on 04 October 2020

Combination therapy with or without warfarin and dipyridamole for severe childhood IgA nephropathy: an RCT

scientific article published on 09 July 2018

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

scientific article published on 30 July 2019

Congenital nephrotic syndrome with a novel NPHS1 mutation.

scientific article published in November 2016

Crescentic IgA nephropathy in a child: Effect of a new combination therapy

scientific article published on 28 February 2017

Crescentic IgA nephropathy in children

scientific article published on 28 January 2020

Development of method for evaluating cell hardness and correlation between bacterial spore hardness and durability ⬇️

scientific article published on June 7, 2012

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

scientific article published on 19 February 2018

Early parenteral nutrition in neonates with congenital diaphragmatic hernia

scientific article published on 01 February 2020

Epithelial-to-mesenchymal transition in cyst lining epithelial cells in an orthologous PCK rat model of autosomal-recessive polycystic kidney disease ⬇️

scientific article published on November 17, 2010

Erratum to: Evidence-based clinical practice guidelines for polycystic kidney disease 2014

scientific article published on 01 August 2016

Evidence-based clinical practice guidelines for polycystic kidney disease 2014

scientific article

Expression of type IV collagen in the developing human kidney ⬇️

scientific article published on September 1, 1998

First Japanese case of Pierson syndrome with mutations in LAMB2 ⬇️

scientific article published on 01 April 2013

Focal Segmental Glomerulosclerosis in Patients With Complete Deletion of One WT1 Allele ⬇️

scientific article published on May 14, 2012

Genetic disorders of human congenital anomalies of the kidney and urinary tract (CAKUT) ⬇️

scientific article published on 01 October 2003

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

scientific article

High incidence of idiopathic nephrotic syndrome in East Asian children: a nationwide survey in Japan (JP-SHINE study).

scientific article published on 2 September 2016

Identification of mutations in FN1 leading to glomerulopathy with fibronectin deposits.

scientific article published on 7 April 2016

IgA nephropathy with presentation of nephrotic syndrome at onset in children

scientific article published on 6 October 2016

Insignificant impact of VUR on the progression of CKD in children with CAKUT.

scientific article published on 24 September 2015

Isovaleric acidemia: Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study

scientific article published on 17 March 2017

Lisinopril versus lisinopril and losartan for mild childhood IgA nephropathy: a randomized controlled trial (JSKDC01 study)

scientific article published on 03 October 2018

Long-term outcome of childhood-onset complicated nephrotic syndrome after a multicenter, double-blind, randomized, placebo-controlled trial of rituximab.

scientific article

Long-term outcome of congenital nephrotic syndrome after kidney transplantation in Japan

scientific article published on 28 November 2017

Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3.

scientific article published on 28 December 2017

Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain

scientific article published on 4 December 2013

Molecular mechanisms determining severity in patients with Pierson syndrome

scientific article published on 21 January 2020

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

scientific article published on 4 May 2017

Nephrotic-range proteinuria in an infant with thin basement membrane nephropathy.

scientific article published on 16 February 2013

Organoids from Nephrotic Disease-Derived iPSCs Identify Impaired NEPHRIN Localization and Slit Diaphragm Formation in Kidney Podocytes

scientific article on 30 August 2018

Pre-dialysis chronic kidney disease in children: results of a nationwide survey in Japan ⬇️

scientific article published on July 3, 2013

Prospective 5-year follow-up of cyclosporine treatment in children with steroid-resistant nephrosis ⬇️

scientific article published on January 13, 2013

Recurrent EIARF and PRES With Severe Renal Hypouricemia by Compound Heterozygous SLC2A9 Mutation ⬇️

scientific article published on May 2, 2011

Renal biopsy criterion in children with asymptomatic constant isolated proteinuria ⬇️

scientific article published on 09 January 2012

Spontaneous remission in children with IgA nephropathy ⬇️

scientific article published on September 2, 2012

Study protocol: high-dose mizoribine with prednisolone therapy in short-term relapsing steroid-sensitive nephrotic syndrome to prevent frequent relapse (JSKDC05 trial)

article

Study protocol: mycophenolate mofetil as maintenance therapy after rituximab treatment for childhood-onset, complicated, frequently-relapsing nephrotic syndrome or steroid-dependent nephrotic syndrome: a multicenter double-blind, randomized, placebo-

article

The Pharmacological Characteristics of Molecular-Based Inherited Salt-Losing Tubulopathies ⬇️

scientific article published on September 1, 2010

The relationship between arginine vasopressin levels and hyponatremia following a percutaneous renal biopsy in children receiving hypotonic or isotonic intravenous fluids ⬇️

scientific article published on October 16, 2010

Treatment strategies for Henoch-Schönlein purpura nephritis by histological and clinical severity ⬇️

scientific article published on 04 January 2011

Two cases of atypical membranoproliferative glomerulonephritis showing opposite clinical course

scientific article published on 10 April 2012

Two-Year Follow-Up of a Prospective Clinical Trial of Cyclosporine for Frequently Relapsing Nephrotic Syndrome in Children ⬇️

scientific article published on July 26, 2012

Validity of the Oxford classification of IgA nephropathy in children ⬇️

scientific article published on 02 December 2011

X-linked Alport syndrome caused by splicing mutations in COL4A5

scientific article

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