Kandai Nozu

Kandai Nozu

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Kandai Nozu

Publications by authors named "Kandai Nozu"

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

Clin Exp Nephrol 2020 Mar 22. Epub 2020 Mar 22.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

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http://dx.doi.org/10.1007/s10157-020-01876-xDOI Listing
March 2020

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

J Hum Genet 2020 Mar 16. Epub 2020 Mar 16.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

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http://dx.doi.org/10.1038/s10038-020-0741-yDOI Listing
March 2020

A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end-stage kidney disease.

CEN Case Rep 2020 Feb 19;9(1):19-23. Epub 2019 Sep 19.

Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan.

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http://dx.doi.org/10.1007/s13730-019-00419-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6990249PMC
February 2020

Combination of furosemide and fludrocortisone as a loading test for diagnosis of distal renal tubular acidosis in a pediatric case.

CEN Case Rep 2020 Feb 8;9(1):81-86. Epub 2019 Nov 8.

Department of Pediatrics, Japanese Red Cross Society Himeji Hospital, 1-12-1 Shimoteno, Himeji, Hyogo, 670-8540, Japan.

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http://dx.doi.org/10.1007/s13730-019-00432-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6990295PMC
February 2020

Rituximab therapy for refractory steroid-resistant nephrotic syndrome in children.

Pediatr Nephrol 2020 Jan 18;35(1):17-24. Epub 2018 Dec 18.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-2, Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

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http://link.springer.com/10.1007/s00467-018-4166-1
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http://dx.doi.org/10.1007/s00467-018-4166-1DOI Listing
January 2020

Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.

Sci Rep 2020 Jan 14;10(1):270. Epub 2020 Jan 14.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

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http://dx.doi.org/10.1038/s41598-019-57149-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6959278PMC
January 2020

Expanding the phenotype of Bardet-Biedl syndrome: Newly diagnosed sibling cases.

Pediatr Int 2020 Jan 15;62(1):101-103. Epub 2020 Jan 15.

Department of Pediatrics, Hirosaki University Hospital, Hirosaki, Japan.

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http://dx.doi.org/10.1111/ped.14066DOI Listing
January 2020

Crescentic IgA nephropathy in children.

Pediatr Nephrol 2020 Jan 28. Epub 2020 Jan 28.

Clinical Research Center, Wakayama Medical University, Wakayama City, Wakayama, Japan.

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http://dx.doi.org/10.1007/s00467-020-04483-wDOI Listing
January 2020

A Case of Gitelman Syndrome that Was Difficult to Distinguish from Hypokalemic Periodic Paralysis Caused by Graves' Disease.

J Nippon Med Sch 2019 Dec 17;86(5):301-306. Epub 2019 May 17.

Department of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School.

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http://dx.doi.org/10.1272/jnms.JNMS.2019_86-505DOI Listing
December 2019

Inherited salt-losing tubulopathy: an old condition but a new category of tubulopathy.

Pediatr Int 2019 Dec 12. Epub 2019 Dec 12.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

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http://dx.doi.org/10.1111/ped.14089DOI Listing
December 2019

Rapidly Progressive Nephronophthisis in a 2-Year-Old Boy with a Homozygous SDCCAG8 Mutation.

Tohoku J Exp Med 2019 09;249(1):29-32

Department of Pediatrics, Kobe University Graduate School of Medicine.

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http://dx.doi.org/10.1620/tjem.249.29DOI Listing
September 2019

Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institution.

Pediatr Nephrol 2019 08 1;34(8):1457-1464. Epub 2019 Apr 1.

Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan.

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http://dx.doi.org/10.1007/s00467-019-04230-wDOI Listing
August 2019

Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation.

Am J Med Genet A 2019 07 29;179(7):1315-1318. Epub 2019 Apr 29.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

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http://dx.doi.org/10.1002/ajmg.a.61159DOI Listing
July 2019

A case report of thin basement membrane nephropathy accompanied by sporadic glomerulocystic kidney disease.

BMC Nephrol 2019 07 9;20(1):248. Epub 2019 Jul 9.

Internal Medicine 1, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku Hamamatsu, 431-3192, Japan.

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http://dx.doi.org/10.1186/s12882-019-1451-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617628PMC
July 2019

Gitelman's syndrome with hyperphosphatemia, effectively responding to single oral magnesium oxide administration: A case report.

Medicine (Baltimore) 2019 Jul;98(28):e16408

Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo.

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http://dx.doi.org/10.1097/MD.0000000000016408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6641743PMC
July 2019

De novo X-linked Alport syndrome in a 3-year-old girl.

BMJ Case Rep 2019 Jul 15;12(7). Epub 2019 Jul 15.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan.

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http://dx.doi.org/10.1136/bcr-2019-230183DOI Listing
July 2019

Familial focal segmental glomerulosclerosis with PLCE1 mutation in siblings.

Pediatr Int 2019 Jul;61(7):726-727

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan.

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http://dx.doi.org/10.1111/ped.13870DOI Listing
July 2019

Establishment of X-linked Alport syndrome model mice with a R471X mutation.

Biochem Biophys Rep 2019 Mar 12;17:81-86. Epub 2018 Dec 12.

Pharmaceutical Research Division, Takeda Pharmaceutical Company Limited, 2-26-1, Muraoka-Higashi, Fujisawa, Kanagawa, 251-8555, Japan.

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http://dx.doi.org/10.1016/j.bbrep.2018.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295608PMC
March 2019

A pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations in .

Hum Genome Var 2019 6;6:13. Epub 2019 Mar 6.

Department of Pediatrics, National Hospital Organization Maizuru Medical Center, Kyoto, Japan.

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http://dx.doi.org/10.1038/s41439-019-0043-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6403217PMC
March 2019

Germline mosaicism is a pitfall in the diagnosis of "sporadic" X-linked Alport syndrome.

J Nephrol 2019 Feb 30;32(1):155-159. Epub 2018 Jul 30.

Department of Pediatrics, Hokkaido University Graduate School of Medicine, North 15, West 7, Sapporo, Hokkaido, 060-8638, Japan.

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http://dx.doi.org/10.1007/s40620-018-0518-yDOI Listing
February 2019

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

CEN Case Rep 2019 02 7;8(1):14-17. Epub 2018 Aug 7.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

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http://dx.doi.org/10.1007/s13730-018-0356-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361082PMC
February 2019

Features of Autosomal Recessive Alport Syndrome: A Systematic Review.

J Clin Med 2019 Feb 3;8(2). Epub 2019 Feb 3.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul 03080, Korea.

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http://dx.doi.org/10.3390/jcm8020178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6406612PMC
February 2019

Ocular findings in a case of Pierson syndrome with a novel mutation in laminin ß2 gene.

J AAPOS 2018 Oct 16;22(5):401-403.e1. Epub 2018 Aug 16.

Department of Ophthalmology, Kyushu University Graduate School of Medical Sciences, Fukuoka City, Japan.

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http://dx.doi.org/10.1016/j.jaapos.2018.03.016DOI Listing
October 2018

Rituximab in steroid-sensitive nephrotic syndrome: lessons from clinical trials.

Pediatr Nephrol 2018 09 17;33(9):1449-1455. Epub 2017 Jul 17.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.

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http://dx.doi.org/10.1007/s00467-017-3746-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061657PMC
September 2018

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

Kidney Int 2018 05 16;93(5):1045-1051. Epub 2018 Mar 16.

Clinic of Nephrology and Rheumatology, University Medical Center Goettingen, University of Goettingen, Goettingen, Germany.

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http://dx.doi.org/10.1016/j.kint.2017.12.018DOI Listing
May 2018

Diagnostic strategy for inherited hypomagnesemia.

Clin Exp Nephrol 2017 Dec 1;21(6):1003-1010. Epub 2017 Mar 1.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 6500017, Japan.

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http://dx.doi.org/10.1007/s10157-017-1396-7DOI Listing
December 2017

A case of mild phenotype Alport syndrome caused by COL4A3 mutations.

CEN Case Rep 2017 Nov 30;6(2):189-193. Epub 2017 Aug 30.

Department of Nephrology, Nagasaki University Hospital, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.

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http://dx.doi.org/10.1007/s13730-017-0273-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5694410PMC
November 2017

Female X-linked Alport syndrome with somatic mosaicism.

Clin Exp Nephrol 2017 Oct 31;21(5):877-883. Epub 2016 Oct 31.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo, Kobe, 6500017, Japan.

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http://dx.doi.org/10.1007/s10157-016-1352-yDOI Listing
October 2017

Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report.

BMC Nephrol 2017 Sep 26;18(1):300. Epub 2017 Sep 26.

Department of Pediatrics, Yokohama City University, Graduate School of Medicine, Yokohama, Kanagawa, Japan.

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http://dx.doi.org/10.1186/s12882-017-0721-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5615464PMC
September 2017

Rituximab for nephrotic syndrome in children.

Clin Exp Nephrol 2017 Apr 15;21(2):193-202. Epub 2016 Jul 15.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.

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http://dx.doi.org/10.1007/s10157-016-1313-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388729PMC
April 2017

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

Pediatr Int 2017 Apr 28;59(4):501-503. Epub 2017 Feb 28.

Department of Pediatrics, Akashi Medical Center, Akashi, Japan.

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http://dx.doi.org/10.1111/ped.13225DOI Listing
April 2017

IgA nephropathy with presentation of nephrotic syndrome at onset in children.

Pediatr Nephrol 2017 03 6;32(3):457-465. Epub 2016 Oct 6.

Clinical Research Center, Wakayama Medical University, Wakayama City, Wakayama, Japan.

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http://dx.doi.org/10.1007/s00467-016-3502-6DOI Listing
March 2017

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

Clin Exp Nephrol 2017 Feb 11;21(1):136-142. Epub 2016 Mar 11.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.

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http://dx.doi.org/10.1007/s10157-016-1256-xDOI Listing
February 2017

Acute kidney injury in type 3 Bartter syndrome: Angiotensin-converting enzyme inhibitors as a cause.

Pediatr Int 2016 Dec;58(12):1373-1374

Department of Pediatrics, Kobe University Graduate School of Medicine, Chuo, Kobe, Japan.

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http://dx.doi.org/10.1111/ped.13100DOI Listing
December 2016

Early RAAS Blockade Exerts Renoprotective Effects in Autosomal Recessive Alport Syndrome.

Tohoku J Exp Med 2016 11;240(3):251-257

Department of Pediatrics, Tohoku University School of Medicine.

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http://dx.doi.org/10.1620/tjem.240.251DOI Listing
November 2016

X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.

Clin Exp Nephrol 2016 Oct 18;20(5):699-702. Epub 2015 Nov 18.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 6500017, Japan.

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http://dx.doi.org/10.1007/s10157-015-1197-9DOI Listing
October 2016

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

Pediatr Nephrol 2016 09 7;31(9):1459-67. Epub 2016 Apr 7.

Department of Biochemistry and Molecular Biology, Kobe University Graduate School of Medicine, Kobe, 658-0072, Japan.

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http://dx.doi.org/10.1007/s00467-016-3368-7DOI Listing
September 2016

A Case of Gene-Related Oculorenal Syndrome: Granular Corneal Dystrophy Type II with a Unique Nephropathy.

Case Rep Nephrol Dial 2016 Sep-Dec;6(3):106-113. Epub 2016 Sep 13.

Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

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https://www.karger.com/Article/FullText/449129
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http://dx.doi.org/10.1159/000449129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073658PMC
September 2016

Transient hyperphosphatasemia in three pediatric patients treated with cyclosporine.

Pediatr Int 2016 May;58(5):429-30

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

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http://doi.wiley.com/10.1111/ped.12923
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http://dx.doi.org/10.1111/ped.12923DOI Listing
May 2016