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

[1] Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome
Braun, Daniela A.
Sadowski, Carolin E.
Kohl, Stefan
Lovric, Svjetlana
Astrinidis, Susanne A.
Pabst, Werner L.
Gee, Heon Yung
Ashraf, Shazia
Lawson, Jennifer A.
Shril, Shirlee
Airik, Merlin
Tan, Weizhen
Schapiro, David
Rao, Jia
Choi, Won-Il
Hermle, Tobias
Kemper, Markus J.
Pohl, Martin
Ozaltin, Fatih
Konrad, Martin
Bogdanovic, Radovan
Buescher, Rainer
Helmchen, Udo
Serdaroglu, Erkin
Lifton, Richard P.
Antonin, Wolfram
Hildebrandt, Friedhelm
NATURE GENETICS, 2016, 48 (04) : 457 - +
[2] Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children
Han, Yanxinli
Sha, Hongyu
Yang, Yuan
Yu, Zhuowei
Zhou, Lanqi
Wang, Yi
Yang, Fengjie
Qiu, Liru
Zhang, Yu
Zhou, Jianhua
ITALIAN JOURNAL OF PEDIATRICS, 2024, 50 (01)
[3] Steroid-resistant nephrotic syndrome caused by NUP93 pathogenic variants
Wasilewska, Anna
Rybi-Szuminska, Agnieszka
Dubiela, Pawel
PEDIATRIC NEPHROLOGY, 2024, 39 (01) : S299 - S299
[4] Steroid-Resistant Nephrotic Syndrome Caused by NUP93 Pathogenic Variants
Wasilewska, Anna
Rybi-Szuminska, Agnieszka
Dubiela, Pawel
JOURNAL OF CLINICAL MEDICINE, 2023, 12 (18)
[5] Mutations in NUP160 cause steroid-resistant nephrotic syndrome
Li, Yuanyuan
Yao, Ling
Yu, Zihua
PEDIATRIC NEPHROLOGY, 2024, 39 (07) : 2263 - 2265
[6] Caenorhabditis elegans nucleoporins Nup93 and Nup205 determine the limit of nuclear pore complex size exclusion in vivo
Galy, V
Mattaj, IW
Askjaer, P
MOLECULAR BIOLOGY OF THE CELL, 2003, 14 (12) : 5104 - 5115
[7] Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report
Sandokji, Ibrahim
Marquez, Jonathan
Ji, Weizhen
Zerillo, Cynthia A.
Konstantino, Monica
Lakhani, Saquib A.
Khokha, Mustafa K.
Warejko, Jillian K.
BMC NEPHROLOGY, 2019, 20 (1)
[8] Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report
Ibrahim Sandokji
Jonathan Marquez
Weizhen Ji
Cynthia A. Zerillo
Monica Konstantino
Saquib A. Lakhani
Mustafa K. Khokha
Jillian K. Warejko
BMC Nephrology, 20
[9] Steroid sensitive nephrotic syndrome (SSNS) by mutation NPH1, NUP93, NUP205, KANK2, COQ6, LAMB2 genes in children
Savenkova, Nadezhda
Lubimova, Olga
Barsukova, Vera
Snezhkova, Elena
PEDIATRIC NEPHROLOGY, 2024, 39 (01) : S284 - S284
[10] Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome
Rini Rossanti
Akemi Shono
Kenichiro Miura
Motoshi Hattori
Tomohiko Yamamura
Keita Nakanishi
Shogo Minamikawa
Junya Fujimura
Tomoko Horinouchi
China Nagano
Nana Sakakibara
Hiroshi Kaito
Hiroaki Nagase
Naoya Morisada
Katsuhiko Asanuma
Masafumi Matsuo
Kandai Nozu
Kazumoto Iijima
Journal of Human Genetics, 2019, 64 : 673 - 679

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