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

关键词：

D O I：

暂无

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

[41] Sequencing analysis of genes SOCS3 and SOCS5 in steroid-resistant nephrotic syndrome children
Ostalska-Nowicka, Danuta
PEDIATRIC NEPHROLOGY, 2012, 27 (09) : 1720 - 1721
[42] Detection of Novel Candidate Mutations as A Cause of Steroid-resistant Nephrotic Syndrome in Children using Next-generation Sequencing Techniques
Alsanie, Walaa F.
Alamri, Abdulhakeem S.
Sobahy, Turki M.
Zailaie, Samar A.
Alhomrani, Majid
Refat, Moamen S.
Habeeballah, Hamza
Asdaq, Syed Mohammed Basheeruddin
Sreeharsha, Nagaraja
Gaber, Ahmed
INDIAN JOURNAL OF PHARMACEUTICAL EDUCATION AND RESEARCH, 2022, 56 (04) : 1 - 7
[43] Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children
Frishberg, Y
Rinat, C
Megged, O
Shapira, E
Feinstein, S
Raas-Rothschild, A
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2002, 13 (02): : 400 - 405
[44] Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity
Gemma Bullich
Daniel Trujillano
Sheila Santín
Stephan Ossowski
Santiago Mendizábal
Gloria Fraga
Álvaro Madrid
Gema Ariceta
José Ballarín
Roser Torra
Xavier Estivill
Elisabet Ars
European Journal of Human Genetics, 2015, 23 : 1192 - 1199
[45] Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity
Bullich, Gemma
Trujillano, Daniel
Santin, Sheila
Ossowski, Stephan
Mendizabal, Santiago
Fraga, Gloria
Madrid, Alvaro
Ariceta, Gema
Ballarin, Jose
Torra, Roser
Estivill, Xavier
Ars, Elisabet
EUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (09) : 1192 - 1199
[46] Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome
Schneider, Ronen
Shril, Shirlee
Buerger, Florian
Deutsch, Konstantin
Yousef, Kirollos
Frank, Camille N.
Onuchic-Whitford, Ana C.
Kitzler, Thomas M.
Mao, Youying
Klaembt, Verena
Zahoor, Muhammad Y.
Lemberg, Katharina
Majmundar, Amar J.
Mansour, Bshara
Saida, Ken
Seltzsam, Steve
Kolvenbach, Caroline M.
Merz, Lea Maria
Mertens, Nils D.
Hermle, Tobias
Mann, Nina
Pantel, Dalia
Halawi, Abdul A.
Bao, Aaron
Schierbaum, Luca
Schneider, Sophia
Salmanullah, Daanya
Ben-Dov, Iddo Z.
Sagiv, Itamar
Eid, Loai A.
Awad, Hazem Subhi H.
Al Saffar, Muna
Soliman, Neveen A.
Nabhan, Marwa M.
Kari, Jameela A.
El Desoky, Sherif
Shalaby, Mohamed A.
Ooda, Said
Fathy, Hanan M.
Mane, Shrikant
Lifton, Richard P.
Somers, Michael J. G.
Hildebrandt, Friedhelm
GENES & DISEASES, 2025, 12 (02)

← 1 2 3 4 5 →