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Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome

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Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. / Solanki, Ashish K; Widmeier, Eugen; Arif, Ehtesham; Sharma, Shailza; Daga, Ankana; Srivastava, Pankaj; Kwon, Sang-Ho; Hugo, Hannah; Nakayama, Makiko; Mann, Nina; Majmundar, Amar J; Tan, Wei; Gee, Heon Yung; Sadowski, Caroline E; Rinat, Choni; Becker-Cohen, Rachel; Bergmann, Carsten; Rosen, Seymour; Somers, Michael; Shril, Shirlee; Huber, Tobias B; Mane, Shrikant; Hildebrandt, Friedhelm; Nihalani, Deepak.

in: KIDNEY INT, Jahrgang 96, Nr. 4, 10.2019, S. 883-889.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Solanki, AK, Widmeier, E, Arif, E, Sharma, S, Daga, A, Srivastava, P, Kwon, S-H, Hugo, H, Nakayama, M, Mann, N, Majmundar, AJ, Tan, W, Gee, HY, Sadowski, CE, Rinat, C, Becker-Cohen, R, Bergmann, C, Rosen, S, Somers, M, Shril, S, Huber, TB, Mane, S, Hildebrandt, F & Nihalani, D 2019, 'Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome', KIDNEY INT, Jg. 96, Nr. 4, S. 883-889. https://doi.org/10.1016/j.kint.2019.06.016

APA

Solanki, A. K., Widmeier, E., Arif, E., Sharma, S., Daga, A., Srivastava, P., Kwon, S-H., Hugo, H., Nakayama, M., Mann, N., Majmundar, A. J., Tan, W., Gee, H. Y., Sadowski, C. E., Rinat, C., Becker-Cohen, R., Bergmann, C., Rosen, S., Somers, M., ... Nihalani, D. (2019). Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. KIDNEY INT, 96(4), 883-889. https://doi.org/10.1016/j.kint.2019.06.016

Vancouver

Solanki AK, Widmeier E, Arif E, Sharma S, Daga A, Srivastava P et al. Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. KIDNEY INT. 2019 Okt;96(4):883-889. https://doi.org/10.1016/j.kint.2019.06.016

Bibtex

@article{9a70ae85ce3042f0b9d41a6c5c2b00da,
title = "Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome",
abstract = "Steroid-resistant nephrotic syndrome is a frequent cause of chronic kidney disease almost inevitably progressing to end-stage renal disease. More than 58 monogenic causes of SRNS have been discovered and majority of known steroid-resistant nephrotic syndrome causing genes are predominantly expressed in glomerular podocytes, placing them at the center of disease pathogenesis. Herein, we describe two unrelated families with steroid-resistant nephrotic syndrome with homozygous mutations in the KIRREL1 gene. One mutation showed high frequency in the European population (minor allele frequency 0.0011) and this patient achieved complete remission following treatment, but later progressed to chronic kidney disease. We found that mutant KIRREL1 proteins failed to localize to the podocyte cell membrane, indicating defective trafficking and impaired podocytes function. Thus, the KIRREL1 gene product has an important role in modulating the integrity of the slit diaphragm and maintaining glomerular filtration function.",
author = "Solanki, {Ashish K} and Eugen Widmeier and Ehtesham Arif and Shailza Sharma and Ankana Daga and Pankaj Srivastava and Sang-Ho Kwon and Hannah Hugo and Makiko Nakayama and Nina Mann and Majmundar, {Amar J} and Wei Tan and Gee, {Heon Yung} and Sadowski, {Caroline E} and Choni Rinat and Rachel Becker-Cohen and Carsten Bergmann and Seymour Rosen and Michael Somers and Shirlee Shril and Huber, {Tobias B} and Shrikant Mane and Friedhelm Hildebrandt and Deepak Nihalani",
note = "Copyright {\textcopyright} 2019 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.",
year = "2019",
month = oct,
doi = "10.1016/j.kint.2019.06.016",
language = "English",
volume = "96",
pages = "883--889",
journal = "KIDNEY INT",
issn = "0085-2538",
publisher = "NATURE PUBLISHING GROUP",
number = "4",

}

RIS

TY - JOUR

T1 - Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome

AU - Solanki, Ashish K

AU - Widmeier, Eugen

AU - Arif, Ehtesham

AU - Sharma, Shailza

AU - Daga, Ankana

AU - Srivastava, Pankaj

AU - Kwon, Sang-Ho

AU - Hugo, Hannah

AU - Nakayama, Makiko

AU - Mann, Nina

AU - Majmundar, Amar J

AU - Tan, Wei

AU - Gee, Heon Yung

AU - Sadowski, Caroline E

AU - Rinat, Choni

AU - Becker-Cohen, Rachel

AU - Bergmann, Carsten

AU - Rosen, Seymour

AU - Somers, Michael

AU - Shril, Shirlee

AU - Huber, Tobias B

AU - Mane, Shrikant

AU - Hildebrandt, Friedhelm

AU - Nihalani, Deepak

N1 - Copyright © 2019 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

PY - 2019/10

Y1 - 2019/10

N2 - Steroid-resistant nephrotic syndrome is a frequent cause of chronic kidney disease almost inevitably progressing to end-stage renal disease. More than 58 monogenic causes of SRNS have been discovered and majority of known steroid-resistant nephrotic syndrome causing genes are predominantly expressed in glomerular podocytes, placing them at the center of disease pathogenesis. Herein, we describe two unrelated families with steroid-resistant nephrotic syndrome with homozygous mutations in the KIRREL1 gene. One mutation showed high frequency in the European population (minor allele frequency 0.0011) and this patient achieved complete remission following treatment, but later progressed to chronic kidney disease. We found that mutant KIRREL1 proteins failed to localize to the podocyte cell membrane, indicating defective trafficking and impaired podocytes function. Thus, the KIRREL1 gene product has an important role in modulating the integrity of the slit diaphragm and maintaining glomerular filtration function.

AB - Steroid-resistant nephrotic syndrome is a frequent cause of chronic kidney disease almost inevitably progressing to end-stage renal disease. More than 58 monogenic causes of SRNS have been discovered and majority of known steroid-resistant nephrotic syndrome causing genes are predominantly expressed in glomerular podocytes, placing them at the center of disease pathogenesis. Herein, we describe two unrelated families with steroid-resistant nephrotic syndrome with homozygous mutations in the KIRREL1 gene. One mutation showed high frequency in the European population (minor allele frequency 0.0011) and this patient achieved complete remission following treatment, but later progressed to chronic kidney disease. We found that mutant KIRREL1 proteins failed to localize to the podocyte cell membrane, indicating defective trafficking and impaired podocytes function. Thus, the KIRREL1 gene product has an important role in modulating the integrity of the slit diaphragm and maintaining glomerular filtration function.

U2 - 10.1016/j.kint.2019.06.016

DO - 10.1016/j.kint.2019.06.016

M3 - SCORING: Journal article

C2 - 31472902

VL - 96

SP - 883

EP - 889

JO - KIDNEY INT

JF - KIDNEY INT

SN - 0085-2538

IS - 4

ER -