Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease (Q24312938)

63

0 references

Ekaterina Rogaeva

Peter Henry St George-Hyslop

78

0 references

82

0 references

Jenny Lord

Jenny Lord

47

0 references

Stephen Todd

Stephen Todd

56

0 references

Bruno A Benitez

Bruno A Benitez

4

0 references

Daniah Trabzuni

Daniah Trabzuni

22

0 references

Adaikalavan Ramasamy

Adaikalavan Ramasamy

24

0 references

Carlos Cruchaga

Carlos Cruchaga

1

0 references

Jose Bras

Jose Bras

27

0 references

Michael E. Weale

Michael E Weale

23

0 references

Nigel Mark Hooper

Nigel M Hooper

60

0 references

Pau Pastor

Pau Pastor

72

0 references

Patrick G. Kehoe

Patrick G Kehoe

59

0 references

Alison Goate

Alison M Goate

86

0 references

James Turton

James Turton

46

0 references

Celeste M Karch

Celeste M Karch

2

0 references

Kevin Morgan

Kevin Morgan

67

0 references

James Lowe

James Lowe

66

0 references

Sheng Chih Jin

Sheng Chih Jin

3

0 references

John P Budde

John Budde

9

0 references

John Anthony Hardy

20

John Hardy

0 references

Rita Guerreiro

6

Rita Guerreiro

0 references

Mina Ryten

18

Mina Ryten

0 references

John C. Morris

84

John C Morris

0 references

Andrew Singleton

79

Andrew B Singleton

0 references

Michelle K Lupton

30

Michelle K Lupton

0 references

Bernadette McGuinness

55

Bernadette McGuinness

0 references

Nigel J Cairns

83

Nigel Cairns

0 references

Dena G. Hernandez

29

Dena G Hernandez

0 references

Perry G Ridge

33

Perry G Ridge

0 references

John S K Kauwe

85

John S K Kauwe

0 references

Maria C Norton

36

Maria C Norton

0 references

F. Yesim Demirci

40

F Yesim Demirci

0 references

Oscar L Lopez

43

Oscar L Lopez

0 references

Janet M Johnston

54

Janet Johnston

0 references

M. Ilyas Kamboh

81

M Ilyas Kamboh

0 references

Celeste Sassi

26

Celeste Sassi

0 references

David S Carrell

14

David Carrell

0 references

J Raphael Gibbs

28

J Raphael Gibbs

0 references

Ronald G Munger

37

Ronald G Munger

0 references

Anne Braae

48

Anne Braae

0 references

Imelda S Barber

49

Imelda Barber

0 references

Kristelle Brown

50

Kristelle Brown

0 references

Peter Passmore

52

Peter Passmore

0 references

Joanne B Norton

8

Joanne Norton

0 references

Oscar Harari

7

Oscar Harari

0 references

Amanda T Jeng

11

Amanda T Jeng

0 references

Sarah Bertelsen

10

Sarah Bertelsen

0 references

Yefei Cai

5

Yefei Cai

0 references

Breanna Cooper

12

Breanna Cooper

0 references

Tara Skorupa

13

Tara Skorupa

0 references

Denise Levitch

15

Denise Levitch

0 references

Simon Hsu

16

Simon Hsu

0 references

JoAnn T Tschanz

35

Joann T Tschanz

0 references

Christopher Medway

45

Christopher Medway

0 references

author name string

Jiyoon Choi

17

0 references

Colin Smith

25

0 references

John Powell

31

0 references

Paola Forabosco

32

0 references

Christopher D Corcoran

34

0 references

Cameron Schmutz

38

0 references

Maegan Leary

39

0 references

Mikhil N Bamne

41

0 references

Xingbin Wang

42

0 references

Mary Ganguli

44

0 references

David Craig

53

0 references

Reinhard Heun

57

0 references

Heike Kölsch

58

0 references

Emma R L C Vardy

61

0 references

David M Mann

62

0 references

Noor Kalsheker

65

0 references

A David Smith

68

0 references

Gordon Wilcock

69

0 references

Donald Warden

70

0 references

Clive Holmes

71

0 references

Oswaldo Lorenzo-Betancor

73

0 references

Zoran Brkanac

74

0 references

Erick Scott

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

75

0 references

language of work or name

English

0 references

publication date

23 January 2014

0 references

published in

Nature

0 references

volume

505

0 references

page(s)

550-4

0 references

issue

7484

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

TREM2 Variants in Alzheimer's Disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

WGCNA: an R package for weighted correlation network analysis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Presenilin-1 uses phospholipase D1 as a negative regulator of beta-amyloid formation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Phospholipase D2, a distinct phospholipase D isoform with novel regulatory properties that provokes cytoskeletal reorganization

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

The Sequence Alignment/Map format and SAMtools

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Characterization of two alternately spliced forms of phospholipase D1. Activation of the purified enzymes by phosphatidylinositol 4,5-bisphosphate, ADP-ribosylation factor, and Rho family monomeric GTP-binding proteins and protein kinase C-alpha

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Genome-wide association study of Alzheimer's disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Peptide mapping by limited proteolysis in sodium dodecyl sulfate and analysis by gel electrophoresis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

A general framework for weighted gene co-expression network analysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

The Clinical Dementia Rating (CDR): current version and scoring rules

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Amyloid deposition as the central event in the aetiology of Alzheimer's disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Insights into TREM2 biology by network analysis of human brain gene expression data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

TREM2 is associated with the risk of Alzheimer's disease in Spanish population

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

A role for phospholipase D3 in myotube formation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Twenty years of Alzheimer's disease-causing mutations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease: a practical approach

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Rare-variant association testing for sequencing data with the sequence kernel association test

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Phospholipase d2 ablation ameliorates Alzheimer's disease-linked synaptic dysfunction and cognitive deficits

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

High-throughput discovery of rare insertions and deletions in large cohorts

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Signed weighted gene co-expression network analysis of transcriptional regulation in murine embryonic stem cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Alzheimer's disease is associated with reduced expression of energy metabolism genes in posterior cingulate neurons

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Tissue and organ donation for research in forensic pathology: the MRC Sudden Death Brain and Tissue Bank

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Phospholipase D1 corrects impaired betaAPP trafficking and neurite outgrowth in familial Alzheimer's disease-linked presenilin-1 mutant neurons

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

A presenilin dimer at the core of the gamma-secretase enzyme: insights from parallel analysis of Notch 1 and APP proteolysis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Mutagenesis of phospholipase D defines a superfamily including a trans-Golgi viral protein required for poxvirus pathogenicity.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

APOE-epsilon4 count predicts age when prevalence of AD increases, then declines: the Cache County Study.

27 September 2017

1 reference

https://api.crossref.org/works/10.1038%2FNATURE12825

Inverse relation between in vivo amyloid imaging load and cerebrospinal fluid Abeta42 in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE12825

A survey of genetic human cortical gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE12825

TREM2 and neurodegenerative disease

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050701

Correction: Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families

29 November 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE12825

inferred from DOI database lookup

7 January 2021

based on heuristic

Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1038%2FNATURE12825

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NATURE12825

1 reference

Dimensions Publication ID

1384574

1033727401

0 references

Fatcat ID

release_olpcilbqybbpxlch337jdzkaly

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/olpcilbqybbpxlch337jdzkaly

mapped directly with Wikidata item

24 November 2022

based on heuristic

1384574

1 reference

1 reference

1 reference