PMC Articles for MedGen (Select 432731) - PMC

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Items: 4

Select item 63705261.

Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology

Park Sun-Ji, Kim Yeawon, Chen Ying Maggie

Pediatr Nephrol. Author manuscript; available in PMC 2019 Sep 1.

Published in final edited form as: Pediatr Nephrol. 2019 Sep; 34(9): 1493–1500. Published online 2018 Aug 11. doi: 10.1007/s00467-018-4031-2

PMCID:: PMC6370526

Abstract Article PDF–855K

Select item 54077202.

MAGI2 Mutations Cause Congenital Nephrotic Syndrome

Agnieszka Bierzynska, Katrina Soderquest, Philip Dean, Elizabeth Colby, Ruth Rollason, Caroline Jones, Carol D. Inward, Hugh J. McCarthy, Michael A. Simpson, Graham M. Lord, Maggie Williams, Gavin I. Welsh, Ania B. Koziell, Moin A. Saleem

J Am Soc Nephrol. 2017 May; 28(5): 1614–1621. Published online 2016 Dec 8. doi: 10.1681/ASN.2016040387

PMCID:: PMC5407720

Abstract Article

Select item 53630423.

Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation

Tomohiro Nakata, Ryo Ishida, Yuu Mihara, Atsuko Fujii, Yoshimoto Inoue, Tetsuro Kusaba, Tsuyoshi Isojima, Yutaka Harita, Chiaki Kanda, Sachiko Kitanaka, Keiichi Tamagaki

BMC Nephrol. 2017; 18: 100. Published online 2017 Mar 23. doi: 10.1186/s12882-017-0516-7

PMCID:: PMC5363042

Abstract Article PDF–1.2M

Select item 40611504.

Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred

Yvonne A. Efebera, Amy Sturm, Elizabeth C. Baack, Craig C. Hofmeister, Anjali Satoskar, Tibor Nadasdy, Gyongyi Nadasdy, Don M. Benson, Julian D Gillmore, Philip N Hawkins, Dorota Rowczenio

Amyloid. Author manuscript; available in PMC 2014 Jun 17.

Published in final edited form as: Amyloid. 2014 Jun; 21(2): 110–112. Published online 2014 Mar 6. doi: 10.3109/13506129.2014.891502