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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中图分类号：

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

[31] 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
KIDNEY INTERNATIONAL, 2019, 96 (04) : 883 - 889
[32] Interaction of Adenovirus Type 5 E4orf4 with the Nuclear Pore Subunit Nup205 Is Required for Proper Viral Gene Expression
Lu, YiQing
Kucharski, Thomas J.
Gamache, Isabelle
Blanchette, Paola
Branton, Philip E.
Teodoro, Jose G.
JOURNAL OF VIROLOGY, 2014, 88 (22) : 13249 - 13259
[33] Nup93, a vertebrate homologue of yeast Nic96p, forms a complex with a novel 205-kDa protein and is required for correct nuclear pore assembly
Grandi, P
Dang, T
Pane, N
Shevchenko, A
Mann, M
Forbes, D
Hurt, E
MOLECULAR BIOLOGY OF THE CELL, 1997, 8 (10) : 2017 - 2038
[34] Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children
Vivante, Asaf
Chacham, Orna Staretz
Shril, Shirlee
Schreiber, Ruth
Mane, Shrikant M.
Pode-Shakked, Ben
Soliman, Neveen A.
Koneth, Irene
Schiffer, Mario
Anikster, Yair
Hildebrandt, Friedhelm
PEDIATRIC NEPHROLOGY, 2019, 34 (09) : 1607 - 1613
[35] Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children
Asaf Vivante
Orna Staretz Chacham
Shirlee Shril
Ruth Schreiber
Shrikant M. Mane
Ben Pode-Shakked
Neveen A. Soliman
Irene Koneth
Mario Schiffer
Yair Anikster
Friedhelm Hildebrandt
Pediatric Nephrology, 2019, 34 : 1607 - 1613
[36] Case report: Genetic defects in laminin α5 cause infantile steroid-resistant nephrotic syndrome
Sunwoo, Yoon
Choi, Naye
Min, Jeesu
Kim, Jihyun
Ahn, Yo Han
Kang, Hee Gyung
FRONTIERS IN PEDIATRICS, 2023, 10
[37] Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome
Prasad, Rathi
Hadjidemetriou, Irene
Maharaj, Avinaash
Meimaridou, Eirini
Buonocore, Federica
Saleem, Moin
Hurcombe, Jenny
Bierzynska, Agnieszka
Barbagelata, Eliana
Bergada, Ignacio
Cassinelli, Hamilton
Das, Urmi
Krone, Ruth
Hacihamdioglu, Bulent
Sari, Erkan
Yesilkaya, Ediz
Storr, Helen L.
Clemente, Maria
Fernandez-Cancio, Monica
Camats, Nuria
Ram, Nanik
Achermann, John C.
Van Veldhoven, Paul P.
Guasti, Leonardo
Braslavsky, Debora
Guran, Tulay
Metherell, Louise A.
JOURNAL OF CLINICAL INVESTIGATION, 2017, 127 (03): : 942 - 953
[38] Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center
Weizhen Tan
Svjetlana Lovric
Shazia Ashraf
Jia Rao
David Schapiro
Merlin Airik
Shirlee Shril
Heon Yung Gee
Michelle Baum
Ghaleb Daouk
Michael A. Ferguson
Nancy Rodig
Michael J. G. Somers
Deborah R. Stein
Asaf Vivante
Jillian K. Warejko
Eugen Widmeier
Friedhelm Hildebrandt
Pediatric Nephrology, 2018, 33 : 305 - 314
[39] Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center
Tan, Weizhen
Lovric, Svjetlana
Ashraf, Shazia
Rao, Jia
Schapiro, David
Airik, Merlin
Shril, Shirlee
Gee, Heon Yung
Baum, Michelle
Daouk, Ghaleb
Ferguson, Michael A.
Rodig, Nancy
Somers, Michael J. G.
Stein, Deborah R.
Vivante, Asaf
Warejko, Jillian K.
Widmeier, Eugen
Hildebrandt, Friedhelm
PEDIATRIC NEPHROLOGY, 2018, 33 (02) : 305 - 314
[40] LAMA5 VARIANTS IN CHILDHOOD STEROID-RESISTANT NEPHROTIC SYNDROME: CANDIDATE GENE MUTATIONS OR INCIDENTAL FINDINGS?
Prikhodina, Larisa
Lebedenkova, Marina
Papizh, Svetlana
Shatalov, Peter
NEPHROLOGY DIALYSIS TRANSPLANTATION, 2017, 32

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