Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis (Q36512447)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23160276%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

title

Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23160276%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

1 reference

25

1 reference

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18 February 2020

Antonio Alcina

1

1 reference

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18 February 2020

Laura Leyva

7

1 reference

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18 February 2020

Juan Antonio García-León

8

1 reference

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18 February 2020

María M Abad-Grau

9

1 reference

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18 February 2020

Koen Vandenbroeck

13

1 reference

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18 February 2020

Jezabel Varade

14

1 reference

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18 February 2020

Xavier Montalban

18

1 reference

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18 February 2020

David Otaegui

21

1 reference

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18 February 2020

Elena Urcelay

24

1 reference

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18 February 2020

5

Guillermo Izquierdo

1 reference

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18 February 2020

20

Arcadi Navarro

1 reference

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18 February 2020

15

Belén de la Hera

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23160276%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

10

Iraide Alloza

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23160276%20AND%20SRC:MED&resulttype=core&format=json

Alfredo Rodríguez-Antigüedad

18 February 2020

11

object named as

Alfredo Antigüedad

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23160276%20AND%20SRC:MED&resulttype=core&format=json

Rafael Pelaez Lamamie De Clairac Arroyo

18 February 2020

16

object named as

Rafael Arroyo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23160276%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

2

Maria Fedetz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23160276%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

4

Albert Saiz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23160276%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

Manuel Comabella Lopez

17

object named as

Manuel Comabella

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23160276%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

22

Javier Olascoaga

1 reference

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18 February 2020

author name string

Oscar Fernández

3

1 reference

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18 February 2020

Miguel Lucas

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23160276%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

María J Garcia-Barcina

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23160276%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

Natalia Petit-Marty

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23160276%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

Yolanda Blanco

23

1 reference

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18 February 2020

language of work or name

English

0 references

publication date

17 November 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23160276%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

18 February 2020

published in

1 reference

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18 February 2020

volume

50

1 reference

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18 February 2020

issue

1

1 reference

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18 February 2020

page(s)

25-33

1 reference

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The putative role of endoplasmic reticulum aminopeptidases in autoimmunity: insights from genomic-wide association studies

18 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538279

Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1

30 September 2017

1 reference

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Extrarenal expression of the 25-hydroxyvitamin D-1-hydroxylase

30 September 2017

1 reference

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Dual transcriptional activator and repressor roles of TBX20 regulate adult cardiac structure and function

30 September 2017

1 reference

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Characterization of genome-wide enhancer-promoter interactions reveals co-expression of interacting genes and modes of higher order chromatin organization

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538279

Extensive promoter-centered chromatin interactions provide a topological basis for transcription regulation

30 September 2017

1 reference

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Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

30 September 2017

1 reference

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Genetic predictors of 25-hydroxyvitamin D levels and risk of multiple sclerosis

30 September 2017

1 reference

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Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci

30 September 2017

1 reference

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Vitamin D deficiency and a CYP27B1-1260 promoter polymorphism are associated with chronic hepatitis C and poor response to interferon-alfa based therapy

30 September 2017

1 reference

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Cell-type-specific activation and repression of PU.1 by a complex of discrete, functionally specialized cis-regulatory elements

30 September 2017

1 reference

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Confirmation of association between multiple sclerosis and CYP27B1

30 September 2017

1 reference

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Genetics and beyond--the transcriptome of human monocytes and disease susceptibility

30 September 2017

1 reference

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Transcriptome genetics using second generation sequencing in a Caucasian population

30 September 2017

1 reference

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Finding the missing heritability of complex diseases

30 September 2017

1 reference

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Common regulatory variation impacts gene expression in a cell type-dependent manner

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538279

Histone H3 lysine 4 di-methylation: a novel mark for transcriptional fidelity?

30 September 2017

1 reference

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Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538279

Multiple sclerosis and the major histocompatibility complex.

30 September 2017

1 reference

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Common variants at CD40 and other loci confer risk of rheumatoid arthritis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538279

Evidence for genetic regulation of vitamin D status in twins with multiple sclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538279

The complex role of vitamin D in autoimmune diseases

30 September 2017

1 reference

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Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538279

Multiple sclerosis genetics.

30 September 2017

1 reference

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The histone-like NF-Y is a bifunctional transcription factor

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538279

A genome-wide association study of global gene expression

30 September 2017

1 reference

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Population genomics of human gene expression

30 September 2017

1 reference

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Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes

30 September 2017

1 reference

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The neurobiology of multiple sclerosis: genes, inflammation, and neurodegeneration

30 September 2017

1 reference

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A note on exact tests of Hardy-Weinberg equilibrium

30 September 2017

1 reference

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Haploview: analysis and visualization of LD and haplotype maps

30 September 2017

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New approaches to investigating heterogeneity in complex traits

30 September 2017

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New diagnostic criteria for multiple sclerosis: guidelines for research protocols

30 September 2017

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The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis

30 September 2017

1 reference

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Rare variants in the CYP27B1 gene are associated with multiple sclerosis.

28 June 2018

1 reference

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Replication of top markers of a genome-wide association study in multiple sclerosis in Spain.

21 September 2018

1 reference

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Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538279

The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis

21 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3538279

Replication of KIF21B as a susceptibility locus for multiple sclerosis

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23160276

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Association of the CBLB gene with multiple sclerosis: new evidence from a replication study in an Italian population

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23160276

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2012-101085

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23160276%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23160276%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23160276%20AND%20SRC:MED&resulttype=core&format=json