التفاصيل البيبلوغرافية
| العنوان: |
A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway. |
| المؤلفون: |
Bellavia, Salvatore, Dahan, Karin, Terryn, Sara, Cosyns, Jean-Pierre, Devuyst, Olivier, Pirson, Yves |
| المصدر: |
Nephrology Dialysis Transplantation; Dec2010, Vol. 25 Issue 12, p4097-4102, 6p, 3 Diagrams |
| مصطلحات موضوعية: |
GENETIC mutation, INFANTILE amnesia, SITUS inversus, KIDNEY diseases, INTERSTITIAL nephritis, CYSTS (Pathology), GENETIC disorders, PATIENTS |
| مستخلص: |
Mutations in the INVS gene coding for inversin have been identified in patients with nephronophthisis type 2 (NPHP2), typically causing infantile onset of ESRD and potentially associated with situs inversus. We report a novel family with a homozygous INVS mutation (c.2695 C > T; p.Arg899X) deleting the C-terminus of inversin. Both affected patients had juvenile ESRD and were discordant for situs inversus. The end-stage kidneys showed chronic interstitial nephritis with cysts and abnormal expression of β-catenin and Dishevelled-1 supporting up-regulated canonical Wnt pathway in tubular cells. This case shows that INVS mutation can cause juvenile nephronophthisis with abnormal reactivity of the Wnt/β-catenin pathway. [ABSTRACT FROM AUTHOR] |
|
Copyright of Nephrology Dialysis Transplantation is the property of Oxford University Press / USA and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| قاعدة البيانات: |
Complementary Index |
Full Text Finder