Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. (Q40094779)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28805828%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28805828%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

0 references

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Galloway-Mowat syndrome

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TP53RK binding protein

1 reference

TP53 regulating kinase

1 reference

O-sialoglycoprotein endopeptidase

1 reference

L antigen family member 3

1 reference

author

Daniela A Braun

1

1 reference

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27 March 2020

Olivier Gribouval

7

1 reference

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27 March 2020

Babak Behnam

45

1 reference

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27 March 2020

Géraldine Mollet

3

1 reference

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27 March 2020

Olivia Boyer

8

1 reference

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27 March 2020

Denny Schanze

13

1 reference

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27 March 2020

Nathalie Boddaert

17

1 reference

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27 March 2020

Monica Furlano

22

1 reference

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27 March 2020

Jennifer F Hu

25

1 reference

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27 March 2020

Sarah Vergult

29

1 reference

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27 March 2020

Tobias Hermle

32

1 reference

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27 March 2020

Heon Yung Gee

35

1 reference

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27 March 2020

Tamara Basta

41

1 reference

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27 March 2020

Verena Matejas

42

1 reference

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27 March 2020

Patrick M Gaffney

54

1 reference

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27 March 2020

Agnieszka Prytula

69

1 reference

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27 March 2020

Patrick Rump

71

1 reference

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27 March 2020

David A. Sweetser

77

1 reference

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27 March 2020

Sebastian A. Leidel

88

1 reference

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27 March 2020

Corinne Antignac

101

1 reference

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27 March 2020

Friedhelm Hildebrandt

102

1 reference

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27 March 2020

91

Annapurna Poduri

1 reference

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27 March 2020

28

Björn Menten

1 reference

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27 March 2020

24

Oraly Sanchez-Ferras

1 reference

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27 March 2020

75

Neveen A Soliman

1 reference

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27 March 2020

21

Svjetlana Lovric

1 reference

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27 March 2020

14

Shazia Ashraf

1 reference

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27 March 2020

37

Carolin E Sadowski

1 reference

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27 March 2020

66

Fatih Ozaltin

1 reference

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27 March 2020

12

Jennifer A Lawson

1 reference

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27 March 2020

33

Shirlee Shril

1 reference

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27 March 2020

6

Weizhen Tan

1 reference

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27 March 2020

4

David Schapiro

1 reference

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27 March 2020

57

Jameela A Kari

1 reference

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27 March 2020

34

Eugen Widmeier

1 reference

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27 March 2020

39

Jillian K Warejko

1 reference

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27 March 2020

40

Ankana Daga

1 reference

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27 March 2020

92

Shrikant Mane

1 reference

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27 March 2020

10

Tilman Jobst-Schwan

1 reference

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27 March 2020

100

Martin Zenker

1 reference

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27 March 2020

98

Bert Callewaert

1 reference

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27 March 2020

85

Klaas J Wierenga

1 reference

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27 March 2020

author name string

Jia Rao

2

1 reference

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27 March 2020

Marie-Claire Daugeron

5

1 reference

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27 March 2020

Patrick Revy

9

1 reference

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27 March 2020

Johanna Magdalena Schmidt

11

1 reference

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27 March 2020

Jeremy F P Ullmann

15

1 reference

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27 March 2020

Charlotte A Hoogstraten

16

1 reference

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27 March 2020

Bruno Collinet

18

1 reference

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27 March 2020

Gaëlle Martin

19

1 reference

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27 March 2020

Dominique Liger

20

1 reference

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27 March 2020

I Chiara Guerrera

23

1 reference

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27 March 2020

Anne-Claire Boschat

26

1 reference

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27 March 2020

Sylvia Sanquer

27

1 reference

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27 March 2020

Nina De Rocker

30

1 reference

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27 March 2020

Won-Il Choi

36

1 reference

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27 March 2020

Werner L Pabst

38

1 reference

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27 March 2020

Karin Scharmann

43

1 reference

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27 March 2020

Sandra D Kienast

44

1 reference

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27 March 2020

Brendan Beeson

46

1 reference

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27 March 2020

Amber Begtrup

47

1 reference

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27 March 2020

Malcolm Bruce

48

1 reference

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27 March 2020

Gaik-Siew Ch'ng

49

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27 March 2020

Shuan-Pei Lin

50

1 reference

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27 March 2020

Jui-Hsing Chang

51

1 reference

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27 March 2020

Chao-Huei Chen

52

1 reference

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27 March 2020

Megan T Cho

53

1 reference

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27 March 2020

Patrick E Gipson

55

1 reference

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27 March 2020

Chyong-Hsin Hsu

56

1 reference

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27 March 2020

Yu-Yuan Ke

58

1 reference

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27 March 2020

Cathy Kiraly-Borri

59

1 reference

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27 March 2020

Wai-Ming Lai

60

1 reference

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27 March 2020

Emmanuelle Lemyre

61

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27 March 2020

Amira Masri

63

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27 March 2020

Mastaneh Moghtaderi

64

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27 March 2020

Kazuyuki Nakamura

65

1 reference

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27 March 2020

Marleen Praet

67

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27 March 2020

Chitra Prasad

68

1 reference

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27 March 2020

Elizabeth R Roeder

70

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27 March 2020

Rhonda E Schnur

72

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27 March 2020

Takashi Shiihara

73

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27 March 2020

Manish D Sinha

74

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27 March 2020

Kenza Soulami

76

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27 March 2020

Wen-Hui Tsai

78

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27 March 2020

Jeng-Daw Tsai

79

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27 March 2020

Rezan Topaloglu

80

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27 March 2020

Udo Vester

81

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27 March 2020

David H Viskochil

82

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27 March 2020

Nithiwat Vatanavicharn

83

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27 March 2020

Jessica L Waxler

84

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27 March 2020

Matthias T F Wolf

86

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27 March 2020

Sik-Nin Wong

87

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27 March 2020

Gessica Truglio

89

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27 March 2020

Peter C Dedon

90

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27 March 2020

Richard P Lifton

93

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27 March 2020

Maxime Bouchard

94

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27 March 2020

Peter Kannu

95

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27 March 2020

David Chitayat

96

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27 March 2020

Daniella Magen

97

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27 March 2020

Merlin Airik

31

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27 March 2020

Rebecca Okashah Littlejohn

62

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27 March 2020

Herman van Tilbeurgh

99

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27 March 2020

language of work or name

English

0 references

publication date

14 August 2017

1 reference

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27 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28805828%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

volume

49

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28805828%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

page(s)

1529-1538

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27 March 2020

issue

10

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28805828%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

27 March 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5819591/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1038/ng.3933

0 references

cites work

The Perseus computational platform for comprehensive analysis of (prote)omics data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Sensitivity of mass spectrometry analysis depends on the shape of the filtration unit used for filter aided sample preparation (FASP).

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

The Phyre2 web portal for protein modeling, prediction and analysis

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Crystal structures of the Gon7/Pcc1 and Bud32/Cgi121 complexes provide a model for the complete yeast KEOPS complex

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Comparison of T7E1 and surveyor mismatch cleavage assays to detect mutations triggered by engineered nucleases

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Efficient mutagenesis by Cas9 protein-mediated oligonucleotide insertion and large-scale assessment of single-guide RNAs

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

CHOPCHOP: a CRISPR/Cas9 and TALEN web tool for genome editing

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Guidelines for investigating causality of sequence variants in human disease

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Improving CRISPR-Cas nuclease specificity using truncated guide RNAs

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

The human EKC/KEOPS complex is recruited to Cullin2 ubiquitin ligases by the human tumour antigen PRAME.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

A high-throughput approach for measuring temporal changes in the interactome

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

The Arp2/3 complex is required for lamellipodia extension and directional fibroblast cell migration

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Gcn4 misregulation reveals a direct role for the evolutionary conserved EKC/KEOPS in the t6A modification of tRNAs

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

A role for the universal Kae1/Qri7/YgjD (COG0533) family in tRNA modification

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

The highly conserved KEOPS/EKC complex is essential for a universal tRNA modification, t6A.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

A chemosensitization screen identifies TP53RK, a kinase that restrains apoptosis after mitotic stress

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Qri7/OSGEPL, the mitochondrial version of the universal Kae1/YgjD protein, is essential for mitochondrial genome maintenance

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

The Sequence Alignment/Map format and SAMtools

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

HomozygosityMapper--an interactive approach to homozygosity mapping

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Structure of the archaeal Kae1/Bud32 fusion protein MJ1130: a model for the eukaryotic EKC/KEOPS subcomplex

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

A systematic approach to mapping recessive disease genes in individuals from outbred populations

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Atomic Structure of the KEOPS Complex: An Ancient Protein Kinase-Containing Molecular Machine

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

The role of the DNA damage response pathways in brain development and microcephaly: insight from human disorders

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Actin up: regulation of podocyte structure and function by components of the actin cytoskeleton

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Yeast homolog of a cancer-testis antigen defines a new transcription complex

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

A genome-wide screen identifies the evolutionarily conserved KEOPS complex as a telomere regulator

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

The universal Kae1 protein and the associated Bud32 kinase (PRPK), a mysterious protein couple probably essential for genome maintenance in Archaea and Eukarya

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Method for isolation of PCR-ready genomic DNA from zebrafish tissues.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Podocyte depletion causes glomerulosclerosis: diphtheria toxin-induced podocyte depletion in rats expressing human diphtheria toxin receptor transgene.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Accurate translation of the genetic code depends on tRNA modified nucleosides.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5819591

Proteomic analysis of the human KEOPS complex identifies C14ORF142 as a core subunit homologous to yeast Gon7

20 August 2018

1 reference

tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy

21 January 2018

1 reference

Global translational impacts of the loss of the tRNA modification t6A in yeast.

21 January 2018

1 reference

Optimization of Codon Translation Rates via tRNA Modifications Maintains Proteome Integrity

21 January 2018

1 reference

A Dynamic Unfolded Protein Response Contributes to the Control of Cortical Neurogenesis

21 January 2018

1 reference

Divergent roles of IRE1alpha and PERK in the unfolded protein response

21 January 2018

1 reference

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

21 January 2018

1 reference

Easy quantitative assessment of genome editing by sequence trace decomposition

21 January 2018

1 reference

Analysis of RNA modifications by liquid chromatography–tandem mass spectrometry

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.3933

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28805828%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

27 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28805828%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1 reference