2013 Fiscal Year Final Research Report
New responsible genes for CAKUT and development of comprehensive gene mutation detection system in CAKUT
Project/Area Number |
23591192
|
Research Category |
Grant-in-Aid for Scientific Research (C)
|
Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Kidney internal medicine
|
Research Institution | Kobe University |
Principal Investigator |
IIJIMA Kazumoto 神戸大学, 医学(系)研究科(研究院), 教授 (00240854)
|
Co-Investigator(Kenkyū-buntansha) |
長田 道夫 筑波大学, 人間総合科学研究科, 教授 (10192238)
|
Project Period (FY) |
2011 – 2013
|
Keywords | 腎尿路奇形 / 原因遺伝子 |
Research Abstract |
We utilized the genome-wide array CGH and the next generation sequencing to identify new responsible copy number variations or gene mutations. We found that deletions in the region of 1q21.1, 16q12.1q12.2, 16q12.1q13 and 8q12.1q12.3, and mutations of the UPK3A gene and EP300 gene may cause CAKUT. We also developed the comprehensive detection system of gene mutations and copy number variations responsible for CAKUT.
|
Research Products
(49 results)
-
[Journal Article] Natural history of genetically proven autosomal recessive Alport syndrome2014
Author(s)
Oka M, Nozu K, Kaito H, Fu XJ, Nakanishi K, Hashimura Y, Morisada N, Yan K, Matsuo M, Yoshikawa N, Vorechovsky I, Iijima K
-
Journal Title
Pediatr Nephrol
Volume: (Epub ahead of print)
-
-
-
[Journal Article] Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IVα5 chain2014
Author(s)
Hashimura Y, Nozu K, Kaito H, Nakanishi K, Fu XJ, Ohtsubo H, Hashimoto F, Oka M, Ninchoji T, Ishimori S, Morisada N, Matsunoshita N, Kamiyoshi N, Yoshikawa N, Iijima K
-
Journal Title
Kidney Int.
Volume: 85(5)
Pages: 1208-13
-
[Journal Article] Cyclosporine C2 monitoring for the treatment of frequently relapsing nephrotic syndrome in children : a multicenter randomized phase II trial2014
Author(s)
Iijima K, Sako M, Oba MS, Ito S, Hataya H, Tanaka R, Ohwada Y, Kamei K, Ishikura K, Yata N, Nozu K, Honda M, Nakamura H, Nagata M, Ohashi Y, Nakanishi K, Yoshikawa N; Japanese Study Group of Kidney Disease in Children
-
Journal Title
Clin J Am Soc Nephrol
Volume: 9(2)
Pages: 271-8
-
-
-
-
-
-
-
[Journal Article] Reference ranges for serum cystatin C measurements in Japanese children by using 4 automated assays2013
Author(s)
Yata N, Uemura O, Honda M, Matsuyama T, Ishikura K, Hataya H, Nagai T, Ikezumi Y, Fujita N, Ito S, Iijima K, Saito M, Keneko T, Kitagawa T
-
Journal Title
Clin Exp Nephrol
Volume: 17(6)
Pages: 872-6
-
-
-
[Journal Article] Prospective 5-year follow-up of cyclosporine treatment in children with steroid-resistant nephrosis2013
Author(s)
Hamasaki Y, Yoshikawa N, Nakazato H, Sasaki S, Iijima K, Nakanishi K, Matsuyama T, Ishikura K, Ito S, Kaneko T, Honda M; for Japanese Study Group of Renal Disease in Children
-
Journal Title
Pediatr Nephrol
Volume: 28(5)
Pages: 765-71
-
-
[Journal Article] Spontaneous remission in children with IgA nephropathy2013
Author(s)
Shima Y, Nakanishi K, Hama T, Mukaiyama H, Togawa H, Sako M, Kaito H, Nozu K, Tanaka R, Iijima K, Yoshikawa N
-
Journal Title
Pediatr Nephrol
Volume: 28(1)
Pages: 71-6
-
[Journal Article] Establishment of a normal reference value for serumβ2 microglobulin in Japanese children : reevaluation of its clinical usefulness2013
Author(s)
Ikezumi Y, Honda M, Matsuyama T, Ishikura K, Hataya H, Yata N, Nagai T, Fujita N, Ito S, Iijima K, Kaneko T, Uemura O
-
Journal Title
Clin Exp Nephrol
Volume: 17(1)
Pages: 99-105
-
-
[Journal Article] A Novel Case of Nephrotic Syndrome Caused by Immune-Mediated Acquired LCAT Deficiency2013
Author(s)
Takahashi S, Hiromura K, Tsukida M, Ohishi Y, Hamatani H, Sakurai N, Sakairi T, Ikeuchi H, Kaneko Y, Maeshima A, Kuroiwa T, Yokoo H, Nagata M, Nojima Y
-
Journal Title
J Am Soc Nephrol
Volume: 24(8)
Pages: 1305-12
-
[Journal Article] Henoch-Schönlein purpura nephritis in a patient with IgG4-related disease : a possible association2013
Author(s)
Ito K, Yamada K, Mizushima I, Aizu M, Fujii H, Mizutomi K, Matsumura M, Hayashi K, Yamagishi M, Umehara H, Yamaguchi Y, Nagata M, Kawano M
-
Journal Title
Clin Nephrol
Volume: 79(3)
Pages: 246-52
-
-
[Journal Article] Two-year follow-up of a prospective clinical trial of cyclosporine for frequently relapsing nephrotic syndrome in children2012
Author(s)
Ishikura K, Yoshikawa N, Nakazato H, Sasaki S, Iijima K, Nakanishi K, Matsuyama T, Ito S, Yata N, Ando T, Honda M; Japanese Study Group of Renal Disease in Children
-
Journal Title
Clin J Am Soc Nephrol
Volume: 7(10)
Pages: 1576-83
-
[Journal Article] Is the new Schwartz equation derived from serum creatinine and body length suitable for evaluation of renal function in Japanese children?2012
Author(s)
Uemura O, Honda M, Matsuyama T, Ishikura K, Hataya H, Nagai T, Ikezumi Y, Fujita N, Ito S, Iijima K; Japanese Society for Pediatric Nephrology, the Committee of Measures for Pediatric CKD
-
Journal Title
Eur J Pediatr
Volume: 171(9)
Pages: 1401-4
-
-
-
-
-
-
-
-
-
[Journal Article] Identification of FOXP3-negative regulatory T-like (CD4(+)CD25(+)CD127(low)) cells in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome2011
Author(s)
Otsubo K, Kanegane H, Kamachi Y, Kobayashi I, Tsuge I, Imaizumi M, Sasahara Y, Hayakawa A, Nozu K, Iijima K, Ito S, Horikawa R, Nagai Y, Takatsu K, Mori H, Ochs HD, Miyawaki T
-
Journal Title
Clin Immunol
Volume: 141(1)
Pages: 111-20
-
[Journal Article] A surviving case of papillorenal syndrome with the phenotype of Potter sequence2011
Author(s)
Fujioka K, Morioka I, Nozu K, Nishimoto M, Amano M, Tagami M, Honda S, Yokoyama N, Yamada H, Iijima K, Matsuo M
-
Journal Title
Pediatr Int.
Volume: 53(3)
Pages: 406-8
-
-
-
[Journal Article] Age, gender, and body length effects on reference serum creatinine levels determined by an enzymatic method in Japanese children : a multicenter study2011
Author(s)
Uemura O, Honda M, Matsuyama T, Ishikura K, Hataya H, Yata N, Nagai T, Ikezumi Y, Fujita N, Ito S, Iijima K, Kitagawa T
-
Journal Title
Clin Exp Nephrol
Volume: 15(5)
Pages: 694-9
-
-
[Journal Article] Treatment strategies for Henoch-Schönlein purpura nephritis by histological and clinical severity2011
Author(s)
Ninchoji T, Kaito H, Nozu K, Hashimura Y, Kanda K, Kamioka I, Shima Y, Hamahira K, Nakanishi K, Tanaka R, Yoshikawa N, Iijima K, Matsuo M
-
Journal Title
Pediatr Nephrol
Volume: 26(4)
Pages: 563-9
-
[Journal Article] Focal segmental glomerulosclerosis as a complication of hepatitis B virus infection2011
Author(s)
Sakai K, Morito N, Usui J, Hagiwara M, Hiwatashi A, Fukuda K, Nanmoku T, Toda T, Matsui N, Nagata M, Yamagata K
-
Journal Title
Nephrol Dial Transplant
Volume: 26(1)
Pages: 371-3
-
-
[Journal Article] A case of multicentric Castleman's disease with membranoproliferative glomerulonephritis type 3-like lesion2011
Author(s)
Nagai K, Usui J, Noguchi K, Unai K, Hiwatashi A, Arakawa Y, Togashi A, Morito N, Saito C, Yoh K, Tsuruoka S, Kojima H, Aita K, Nagata M, Yamagata K
-
Journal Title
Pathol Int.
Volume: 61(11)
Pages: 686-90
-
-
-
-
-
-
[Presentation] Genetical and Clinical Aspects of X-Linked Alport Syndrome in Males with Positive Staining of the alpha5(IV) Chain2012
Author(s)
Hashimura Y, Nozu K, Kaito H, Ohtsubo H, Hashimoto F, Ishimori S, Ninchoji T, Morisada N, Nakanishi K, Yoshikawa N, Iijima K
Organizer
45th Annual Meeting of the American Society of Nephrology
Place of Presentation
San Diego, USA
Year and Date
20121101-04
-