@article {701,
	title = {Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.},
	journal = {Kidney Int},
	volume = {96},
	year = {2019},
	month = {2019 Oct},
	pages = {883-889},
	abstract = {<p>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.</p>},
	issn = {1523-1755},
	doi = {10.1016/j.kint.2019.06.016},
	author = {Solanki, Ashish K and Widmeier, Eugen and Arif, Ehtesham and Sharma, Shailza and Daga, Ankana and Srivastava, Pankaj and Kwon, Sang-Ho and Hugo, Hannah and Nakayama, Makiko and Mann, Nina and Majmundar, Amar J and Tan, Wei and Gee, Heon Yung and Sadowski, Caroline E and Rinat, Choni and Becker-Cohen, Rachel and Bergmann, Carsten and Rosen, Seymour and Somers, Michael and Shril, Shirlee and Huber, Tobias B and Mane, Shrikant and Hildebrandt, Friedhelm and Nihalani, Deepak}
}
