Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

被引：0

作者：

Daniela A Braun

Carolin E Sadowski

Stefan Kohl

Svjetlana Lovric

Susanne A Astrinidis

Werner L Pabst

Heon Yung Gee

Shazia Ashraf

Jennifer A Lawson

Shirlee Shril

Merlin Airik

Weizhen Tan

David Schapiro

Jia Rao

Won-Il Choi

Tobias Hermle

Markus J Kemper

Martin Pohl

Fatih Ozaltin

Martin Konrad

Radovan Bogdanovic

Rainer Büscher

Udo Helmchen

Erkin Serdaroglu

Richard P Lifton

Wolfram Antonin

Friedhelm Hildebrandt

机构：

[1] Boston Children's Hospital,Department of Medicine

[2] Harvard Medical School,Department of Pharmacology

[3] Friedrich Miescher Laboratory,Department of Pediatrics

[4] Max Planck Society,Department of Pediatrics and Adolescent Medicine

[5] Brain Korea 21 PLUS Project for Medical Sciences,Department of Pediatric Nephrology

[6] Yonsei University College of Medicine,Department of General Pediatrics

[7] University Medical Center Hamburg-Eppendorf,Department of Pediatrics II

[8] University of Freiburg Medical Center,Department of Pediatric Nephrology

[9] Hacettepe University Faculty of Medicine,Department of Genetics

[10] Nephrogenetics Laboratory,undefined

[11] Hacettepe University,undefined

[12] Center for Biobanking and Genomics,undefined

[13] Hacettepe University,undefined

[14] University Hospital Münster,undefined

[15] Medical Faculty,undefined

[16] University of Belgrade,undefined

[17] Pediatric Nephrology,undefined

[18] University of Duisburg-Essen,undefined

[19] Institute of Pathology,undefined

[20] Kidney Registry,undefined

[21] University Hospital Hamburg-Eppendorf,undefined

[22] Dr. Behçet Uz Children Hospital,undefined

[23] Yale University School of Medicine,undefined

[24] Howard Hughes Medical Institute,undefined

来源：

Nature Genetics | 2016年 / 48卷

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学科分类号：

摘要：

Friedhelm Hildebrandt and colleagues identify mutations in NUP93, NUP205 or XPO5 in patients with steroid-resistant nephrotic syndrome. They show that NUP93 and XPO5 interact with SMAD4 and that NUP93 mutations interfere with BMP7-SMAD4 signaling in podocytes.

引用

页码：457 / 465

页数：8

共 46 条

[21] Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model
Agnieszka Bierzynska
Katherine Bull
Sara Miellet
Philip Dean
Chris Neal
Elizabeth Colby
Hugh J. McCarthy
Shivaram Hegde
Manish D. Sinha
Carmen Bugarin Diz
Kathleen Stirrups
Karyn Megy
Rutendo Mapeta
Chris Penkett
Sarah Marsh
Natalie Forrester
Maryam Afzal
Hannah Stark
NIHR BioResource
Maggie Williams
Gavin I. Welsh
Ania B. Koziell
Paul S. Hartley
Moin A. Saleem
Pediatric Nephrology, 2022, 37 : 2643 - 2656
[22] Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93
Martin Bezdíčka
Šárka Štolbová
Tomáš Seeman
Ondřej Cinek
Michal Malina
Naděžda Šimánková
Štěpánka Průhová
Jakub Zieg
Pediatric Nephrology, 2018, 33 : 1347 - 1363
[23] Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93
Bezdicka, Martin
Stolbova, Sarka
Seeman, Tomas
Cinek, Ondrej
Malina, Michal
Simankova, Nadezda
Pruhova, Stepanka
Zieg, Jakub
PEDIATRIC NEPHROLOGY, 2018, 33 (08) : 1347 - 1363
[24] A Novel NUP85 Variant Expanding the Phenotypic Spectrum of NUP85-Associated Steroid-Resistant Nephrotic Syndrome
Sukur, Eda Didem Kurt
Timucin, Emel
Bastug, Turgut
Ozaltin, Fatih
CLINICAL GENETICS, 2025,
[25] First Report of Recurrent Nephrotic Syndrome After Kidney Transplantation in a Patient With NUP93 Gene Mutations: A Case Report
Seeman, T.
Vondrak, K.
TRANSPLANTATION PROCEEDINGS, 2018, 50 (10) : 3954 - 3956
[26] SMARCAL1 mutations: A cause of prepubertal idiopathic steroid-resistant nephrotic syndrome
Živičnjak M.
Franke D.
Zenker M.
Hoyer J.
Lücke T.
Pape L.
Ehrich J.H.H.
Pediatric Research, 2009, 65 (5) : 564 - 568
[27] Genetic and clinical spectrum of steroid-resistant nephrotic syndrome with nuclear pore gene mutation
Yang, Huihui
Zhu, Gaohong
Shao, Wenjun
Liao, Panli
Yan, Yuan
Wang, Chun
Wang, Xiaowen
PEDIATRIC NEPHROLOGY, 2025, : 1663 - 1676
[28] Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome
Philippe, Aurelie
Nevo, Fabien
Esquivel, Ernie L.
Reklaityte, Dalia
Gribouval, Olivier
Tete, Marie-Josephe
Loirat, Chantal
Dantal, Jacques
Fischbach, Michel
Pouteil-Noble, Claire
Decramer, Stephane
Hoehne, Martin
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Charbit, Marina
Niaudet, Patrick
Antignac, Corinne
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2008, 19 (10): : 1871 - 1878
[29] SMARCAL1 Mutations: A Cause of Prepubertal Idiopathic Steroid-resistant Nephrotic Syndrome
Zivicnjak, Miroslav
Franke, Doris
Zenker, Martin
Hoyer, Juliane
Luecke, Thomas
Pape, Lars
Ehrich, Jochen H. H.
PEDIATRIC RESEARCH, 2009, 65 (05) : 564 - 568
[30] Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome
Rosti, Rasim Ozgur
Sotak, Bethany N.
Bielas, Stephanie L.
Bhat, Gifty
Silhavy, Jennifer L.
Aslanger, Ayca Dilruba
Altunoglu, Umut
Bilge, Ilmay
Tasdemir, Mehmet
Yzaguirrem, Amanda D.
Musaev, Damir
Infante, Sofia
Thuong, Whitney
Marin-Valencia, Isaac
Nelson, Stanley F.
Kayserili, Hulya
Gleeson, Joseph G.
JOURNAL OF MEDICAL GENETICS, 2017, 54 (06) : 399 - 403

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