Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome (Q24337607)

From Wikidata

Jump to navigation Jump to search

scientific article

edit

Language	Label	Description	Also known as
English	Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome	scientific article

Statements

instance of

scholarly article

0 references

title

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome (English)

0 references

main subject

diacylglycerol kinase epsilon

1 reference

stated in

GOA release 2020-03-11

hemolytic-uremic syndrome

1 reference

based on heuristic

inferred from title

author

Peter Nürnberg

series ordinal

24

0 references

Gudrun Nürnberg

series ordinal

14

0 references

Véronique Frémeaux-Bacchi

series ordinal

2

0 references

Moglie Le Quintrec

series ordinal

6

0 references

Chantal Loirat

series ordinal

29

0 references

Janine Altmüller

series ordinal

15

0 references

Véronique Baudouin

series ordinal

19

object named as

Véronique Baudouin

0 references

Georges Deschênes

series ordinal

18

object named as

Georges Deschenes

0 references

Mathieu Lemaire

object named as

Mathieu Lemaire

series ordinal

1

0 references

Georges Deschenes

object named as

Georges Deschenes

series ordinal

18

0 references

Holger Thiele

series ordinal

16

object named as

Holger Thiele

0 references

Janine Altmüller

1 reference

stated in

ORCID Public Data File 2021

Marie-Claire Gubler

1 reference

stated in

ORCID Public Data File 2021

Eva Simková

series ordinal

23

object named as

Eva Simkova

0 references

Richard P. Lifton

series ordinal

30

object named as

Richard P Lifton

0 references

author name string

Franz Schaefer

series ordinal

3

0 references

Murim Choi

series ordinal

4

0 references

Wai Ho Tang

series ordinal

5

0 references

Fadi Fakhouri

series ordinal

7

0 references

Sophie Taque

series ordinal

8

0 references

François Nobili

series ordinal

9

0 references

Frank Martinez

series ordinal

10

0 references

Weizhen Ji

series ordinal

11

0 references

John D Overton

series ordinal

12

0 references

Shrikant M Mane

series ordinal

13

0 references

Denis Morin

series ordinal

17

0 references

Véronique Baudouin

series ordinal

19

0 references

Brigitte Llanas

series ordinal

20

0 references

Laure Collard

series ordinal

21

0 references

Mohammed A Majid

series ordinal

22

0 references

Nathalie Rioux-Leclerc

series ordinal

25

0 references

Gilbert W Moeckel

series ordinal

26

0 references

Marie Claire Gubler

series ordinal

27

0 references

John Hwa

series ordinal

28

0 references

language of work or name

English

0 references

publication date

May 2013

0 references

published in

Nature Genetics

0 references

volume

45

0 references

issue

5

0 references

page(s)

531-6

0 references

cites work

Atypical hemolytic uremic syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

19 March 2017

VEGF inhibition and renal thrombotic microangiopathy

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

19 March 2017

PLINK: a tool set for whole-genome association and population-based linkage analyses

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

19 March 2017

Direct activation of human TRPC6 and TRPC3 channels by diacylglycerol

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

19 March 2017

Molecular cloning of a novel human diacylglycerol kinase highly selective for arachidonate-containing substrates

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

19 March 2017

The Sequence Alignment/Map format and SAMtools

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

19 March 2017

Principal components analysis corrects for stratification in genome-wide association studies

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

19 March 2017

Haploview: analysis and visualization of LD and haplotype maps

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

19 March 2017

Regulation of phosphoinositide-specific phospholipase C

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

19 March 2017

Allegro, a new computer program for multipoint linkage analysis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

7 April 2017

Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

27 September 2017

DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

27 September 2017

Use of eculizumab for atypical haemolytic uraemic syndrome and C3 glomerulopathies

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

27 September 2017

STEC-HUS, atypical HUS and TTP are all diseases of complement activation

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

27 September 2017

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

27 September 2017

Glucose and collagen regulate human platelet activity through aldose reductase induction of thromboxane

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

27 September 2017

Regulation and functions of diacylglycerol kinases

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

27 September 2017

Acute kidney injury in pregnancy: the thrombotic microangiopathies

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

27 September 2017

Alternative complement pathway assessment in patients with atypical HUS.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

27 September 2017

Microangiopathic haemolytic anaemia resembling thrombotic thrombocytopenic purpura in systemic lupus erythematosus: the role of ADAMTS13

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

27 September 2017

Atypical hemolytic-uremic syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

27 September 2017

Autoimmune forms of thrombotic microangiopathy and membranoproliferative glomerulonephritis: Indications for a disease spectrum and common pathogenic principles

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

27 September 2017

Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

27 September 2017

Activation of platelet function through G protein-coupled receptors

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

27 September 2017

High glucose induced VEGF expression via PKC and ERK in glomerular podocytes

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

27 September 2017

Diacylglycerol kinase epsilon regulates seizure susceptibility and long-term potentiation through arachidonoyl- inositol lipid signaling

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

27 September 2017

Haemolytic-uraemic syndrome in practice

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

27 September 2017

Receptor-mediated release of endothelium-derived relaxing factor and prostacyclin from bovine aortic endothelial cells is coupled

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

27 September 2017

Flanking residues help determine whether a hydrophobic segment adopts a monotopic or bitopic topology in the endoplasmic reticulum membrane

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

30 May 2018

Glomerular structure and function require paracrine, not autocrine, VEGF-VEGFR-2 signaling.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

30 May 2018

Differential regulation of VEGF signaling by PKC-alpha and PKC-epsilon in endothelial cells

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

30 May 2018

Diacylglycerol kinase epsilon, but not zeta, selectively removes polyunsaturated diacylglycerol, inducing altered protein kinase C distribution in vivo.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

30 May 2018

Diacylglycerol and phosphatidate generated by phospholipases C and D, respectively, have distinct fatty acid compositions and functions. Phospholipase D-derived diacylglycerol does not activate protein kinase C in porcine aortic endothelial cells

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

30 May 2018

A diacylglycerol kinase inhibitor, R59022, potentiates secretion by and aggregation of thrombin-stimulated human platelets

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

30 May 2018

Protein kinase C and the stimulation of tissue plasminogen activator release from human endothelial cells. Dependence on the elevation of messenger RNA.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

30 May 2018

Purification and characterization of cytosolic diacylglycerol kinases of human platelets

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

30 May 2018

The roles of protein kinase C and intracellular Ca2+ in the secretion of von Willebrand factor from human vascular endothelial cells

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

30 May 2018

PKC alpha mediates beta-arrestin2-dependent nephrin endocytosis in hyperglycemia

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

29 November 2018

Estimating the age of rare disease mutations: the example of Triple-A syndrome.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

29 November 2018

DMLE+: Bayesian linkage disequilibrium gene mapping.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3719402

retrieved

29 November 2018

Protein kinase C-beta mediates lipoprotein-induced generation of PAI-1 from vascular endothelial cells

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542698

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The regulation of platelet-activating factor production in endothelial cells. The role of calcium and protein kinase C

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542698

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chelerythrine, a selective protein kinase C inhibitor, counteracts pyrogen-induced expression of tissue factor without effect on thrombomodulin down-regulation in endothelial cells

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542698

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HaploPainter: a tool for drawing pedigrees with complex haplotypes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23542698

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Periodate-lysine-paraformaldehyde fixative. A new fixation for immunoelectron microscopy

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG.2590

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG.2590

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2922171

Dimensions Publication ID

1021502335

0 references

OpenCitations bibliographic resource ID

2922171

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2922171

PMC publication ID

3719402

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2922171

PubMed publication ID

23542698

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2922171

ResearchGate publication ID

236094031

0 references

 

Sitelinks

Wikipedia(0 entries)

edit

Wikibooks(0 entries)

edit

Wikinews(0 entries)

edit

Wikiquote(0 entries)

edit

Wikisource(0 entries)

edit

Wikiversity(0 entries)

edit

Wikivoyage(0 entries)

edit

Wiktionary(0 entries)

edit

Multilingual sites(0 entries)

edit

Retrieved from "https://www.wikidata.org/w/index.php?title=Q24337607&oldid=2246679956"