Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A Braun; Jia Rao; Geraldine Mollet; David Schapiro; Marie-Claire Daugeron; Weizhen Tan; Olivier Gribouval; Olivia Boyer; Patrick Revy; Tilman Jobst-Schwan; Johanna Magdalena Schmidt; Jennifer A Lawson; Denny Schanze; Shazia Ashraf; Jeremy F P Ullmann; Charlotte A Hoogstraten; Nathalie Boddaert; Bruno Collinet; Gaëlle Martin; Dominique Liger; Svjetlana Lovric; Monica Furlano; I Chiara Guerrera; Oraly Sanchez-Ferras; Jennifer F Hu; Anne-Claire Boschat; Sylvia Sanquer; Björn Menten; Sarah Vergult; Nina De Rocker; Merlin Airik; Tobias Hermle; Shirlee Shril; Eugen Widmeier; Heon Yung Gee; Won-Il Choi; Carolin E Sadowski; Werner L Pabst; Jillian K Warejko; Ankana Daga; Tamara Basta; Verena Matejas; Karin Scharmann; Sandra D Kienast; Babak Behnam; Brendan Beeson; Amber Begtrup; Malcolm Bruce; Gaik-Siew Ch'ng; Shuan-Pei Lin; Jui-Hsing Chang; Chao-Huei Chen; Megan T Cho; Patrick M Gaffney; Patrick E Gipson; Chyong-Hsin Hsu; Jameela A Kari; Yu-Yuan Ke; Cathy Kiraly-Borri; Wai-ming Lai; Emmanuelle Lemyre; Rebecca Okashah Littlejohn; Amira Masri; Mastaneh Moghtaderi; Kazuyuki Nakamura; Fatih Ozaltin; Marleen Praet; Chitra Prasad; Agnieszka Prytula; Elizabeth R Roeder; Patrick Rump; Rhonda E Schnur; Takashi Shiihara; Manish D Sinha; Neveen A Soliman; Kenza Soulami; David A Sweetser; Wen-Hui Tsai; Jeng-Daw Tsai; Rezan Topaloglu; Udo Vester; David H Viskochil; Nithiwat Vatanavicharn; Jessica L Waxler; Klaas J Wierenga; Matthias T F Wolf; Sik-Nin Wong; Sebastian A Leidel; Gessica Truglio; Peter C Dedon; Annapurna Poduri; Shrikant Mane; Richard P Lifton; Maxime Bouchard; Peter Kannu; David Chitayat; Daniella Magen; Bert Callewaert; Herman van Tilbeurgh; Martin Zenker; Corinne Antignac; Friedhelm Hildebrandt

doi:10.1038/ng.3933

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Nature Genetics ◽

10.1038/ng.3933 ◽

2017 ◽

Vol 49 (10) ◽

pp. 1529-1538 ◽

Cited By ~ 67

Author(s):

Daniela A Braun ◽

Jia Rao ◽

Geraldine Mollet ◽

David Schapiro ◽

Marie-Claire Daugeron ◽

...

Keyword(s):

Nephrotic Syndrome ◽

Primary Microcephaly ◽

Keops Complex

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Faculty Opinions recommendation of Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.728639673.793543621 ◽

2018 ◽

Author(s):

Kenneth Campellone

Keyword(s):

Nephrotic Syndrome ◽

Primary Microcephaly ◽

Keops Complex

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Cytokine polymorphisms and nephrotic syndrome

Clinical Science ◽

10.1042/cs20020025 ◽

2002 ◽

Vol 102 (5) ◽

pp. 513 ◽

Cited By ~ 3

Author(s):

PETER W. MATHIESON

Keyword(s):

Nephrotic Syndrome

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IMMUNOSUPPRESSIVE TREATMENT OF CHILDREN WITH RELAPSING NEPHROTIC SYNDROME (NS): A META‐ANALYSIS OF RANDOMISED CONTROLLED TRIALS (RCTs)

Nephrology ◽

10.1046/j.1440-1797.2000.abs115.x ◽

2000 ◽

Vol 5 (3) ◽

pp. A95-A95

Author(s):

Durkan A ◽

Hodson E ◽

Willis N ◽

Craig J

Keyword(s):

Nephrotic Syndrome ◽

Randomised Controlled Trials ◽

Meta Analysis ◽

Immunosuppressive Treatment ◽

Controlled Trials ◽

Randomised Controlled

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THE ROLE OF HIPPURAN RENOGRAPHY AS A DIAGNOSTIC TEST TO DETERMINE TRANSIENT ACUTE RENAL FAILURE (ARF) EVENTS IN NEPHROTIC SYNDROME (NS) PATIENTS

Nephrology ◽

10.1046/j.1440-1797.2002.00007-1-154.x ◽

2002 ◽

Vol 7 (1) ◽

pp. A154-A154

Author(s):

E. Sukandar ◽

R. Bandiara

Keyword(s):

Renal Failure ◽

Acute Renal Failure ◽

Nephrotic Syndrome ◽

Diagnostic Test

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Hereditary nephritis with the nephrotic syndrome

Archives of Internal Medicine ◽

10.1001/archinte.125.3.459 ◽

1970 ◽

Vol 125 (3) ◽

pp. 459-461 ◽

Cited By ~ 1

Author(s):

J. H. Felts

Keyword(s):

Nephrotic Syndrome ◽

Hereditary Nephritis

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Nephrotic syndrome associated with osteomyelitis without secondary amyloidosis

Archives of Internal Medicine ◽

10.1001/archinte.125.2.322 ◽

1970 ◽

Vol 125 (2) ◽

pp. 322-327 ◽

Cited By ~ 1

Author(s):

B. Boonshaft

Keyword(s):

Nephrotic Syndrome ◽

Secondary Amyloidosis

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Monoclonal gammopathy, glomerulonephritis and the nephrotic syndrome

Archives of Internal Medicine ◽

10.1001/archinte.125.4.696 ◽

1970 ◽

Vol 125 (4) ◽

pp. 696-700 ◽

Cited By ~ 2

Author(s):

N. G. Kaplan

Keyword(s):

Nephrotic Syndrome ◽

Monoclonal Gammopathy

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Nephrotic syndrome. A hypercoagulable state

Archives of Internal Medicine ◽

10.1001/archinte.127.6.1021 ◽

1971 ◽

Vol 127 (6) ◽

pp. 1021-1027 ◽

Cited By ~ 24

Author(s):

A. G. Kendall

Keyword(s):

Nephrotic Syndrome ◽

Hypercoagulable State

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Nephrotic syndrome with use of ammoniated mercury

Archives of Internal Medicine ◽

10.1001/archinte.120.5.581 ◽

1967 ◽

Vol 120 (5) ◽

pp. 581-586 ◽

Cited By ~ 4

Author(s):

D. S. Silverberg

Keyword(s):

Nephrotic Syndrome

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Steroid-resistant idiopathic nephrotic syndrome. Results of azathioprine treatment in adults

Archives of Internal Medicine ◽

10.1001/archinte.130.6.877 ◽

1972 ◽

Vol 130 (6) ◽

pp. 877-882

Author(s):

B. P. Teehan

Keyword(s):

Nephrotic Syndrome ◽

Idiopathic Nephrotic Syndrome ◽

Steroid Resistant ◽

Azathioprine Treatment

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