NEK1 variants confer susceptibility to amyotrophic lateral sclerosis (Q28277378)

30 September 2017

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis (English)

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amyotrophic lateral sclerosis

30 September 2017

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author

Russell McLaughlin

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54

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72

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Caroline Vance

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30 September 2017

Carsten Drepper

66

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William Sproviero

William Sproviero

12

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Ashley R. Jones

Ashley R Jones

9

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Simon Topp

Simon D Topp

15

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Marka van Blitterswijk

Marka Van Blitterswijk

58

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Bradley N. Smith

Bradley N Smith

13

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Aleksey Shatunov

Aleksey Shatunov

11

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Nicola Ticozzi

Nicola Ticozzi

4

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Claire Troakes

Claire Troakes

22

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Kevin Talbot

Kevin Talbot

55

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Giuseppe Lauria

Giuseppe Lauria

44

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Pamela Shaw

Pamela J Shaw

53

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Patrick A Dion

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Patrick A Dion

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30 September 2017

Christopher E Shaw

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Ian P Blair

Ian P Blair

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Karen E Morrison

Karen E Morrison

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Rosa Rademakers

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Rosa Rademakers

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Ammar Al-Chalabi

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Leonard H van den Berg

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Leonard H van den Berg

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Albert C Ludolph

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Gabriele Mora

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Adriano Chio

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Peter M Andersen

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SLAGEN Consortium

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Jan H Veldink

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P Nigel Leigh

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Claire S Leblond

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Perry T C van Doormaal

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Perry T C van Doormaal

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Cinzia Tiloca

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Safa Al-Sarraj

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Anneloor L M A Ten Asbroek

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Anneloor L M A Ten Asbroek

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Jonathan D Glass

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John E Landers

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Jochen H Weishaupt

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Kelly L Williams

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Kevin B Boylan

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Antonia Ratti

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Daniela Calini

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Frank P Diekstra

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Hardev Pall

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Peter C Sapp

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Phillip Van Damme

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Aoife Kenna

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Federico Verde

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Kevin P Kenna

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Annelot M Dekker

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Pamela Keagle

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Claudia Fallini

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Claudia Colombrita

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Andrea Calvo

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30 September 2017

Anneke J van der Kooi

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Anneke J van der Kooi

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30 September 2017

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Meraida Polak

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Tim M Strom

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Nazli A Basak

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30 September 2017

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Robert H Brown

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30 September 2017

Brendan J Kenna

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30 September 2017

Kristel R van Eijk

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Michael A van Es

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Jack W Miller

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30 September 2017

Andrew King

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Seneshaw Asress

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30 September 2017

José Luis Muñoz-Blanco

39

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30 September 2017

Garth A Nicholson

47

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30 September 2017

Franco Taroni

56

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30 September 2017

Jesús Esteban-Pérez

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30 September 2017

Alberto García-Redondo

61

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30 September 2017

Cinzia Gellera

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30 September 2017

Jesús S Mora

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30 September 2017

Vincenzo Silani

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30 September 2017

language of work or name

English

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publication date

25 July 2016

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30 September 2017

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30 September 2017

48

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30 September 2017

1037-1042

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30 September 2017

9

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dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

30 September 2017

1 reference

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SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

DNA damage in neurodegenerative diseases

2 June 2018

1 reference

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Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Reducing INDEL calling errors in whole genome and exome sequencing data

2 June 2018

1 reference

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In silico prediction of splice-altering single nucleotide variants in the human genome

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

2 June 2018

1 reference

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Functions of FUS/TLS from DNA repair to stress response: implications for ALS.

2 June 2018

1 reference

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DNA damage and its links to neurodegeneration

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

A general framework for estimating the relative pathogenicity of human genetic variants

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

State of play in amyotrophic lateral sclerosis genetics

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

NCBI's Database of Genotypes and Phenotypes: dbGaP.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Riding the wave of ependymal cilia: genetic susceptibility to hydrocephalus in primary ciliary dyskinesia

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Predicting functional effect of human missense mutations using PolyPhen-2.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

An integrated map of genetic variation from 1,092 human genomes

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Extensive genetics of ALS: a population-based study in Italy

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Predicting the functional effect of amino acid substitutions and indels

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Unlocking Mendelian disease using exome sequencing

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Adenylyl cyclase type 3, a marker of primary cilia, is reduced in primary cell culture and in lumbar spinal cord in situ in G93A SOD1 mice

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Predicting the functional impact of protein mutations: application to cancer genomics

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

A framework for variation discovery and genotyping using next-generation DNA sequencing data

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

NEK1 mutations cause short-rib polydactyly syndrome type majewski

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

GCTA: a tool for genome-wide complex trait analysis

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Robust relationship inference in genome-wide association studies

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

MutationTaster evaluates disease-causing potential of sequence alterations

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

METAL: fast and efficient meta-analysis of genomewide association scans

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Nek1 silencing slows down DNA repair and blocks DNA damage-induced cell cycle arrest

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

The role of primary cilia in neuronal function

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Identification of deleterious mutations within three human genomes

2 June 2018

1 reference

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

The NIMA-family kinase Nek3 regulates microtubule acetylation in neurons

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Identifying novel constrained elements by exploiting biased substitution patterns

2 June 2018

1 reference

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HomozygosityMapper--an interactive approach to homozygosity mapping

2 June 2018

1 reference

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Nek1 regulates cell death and mitochondrial membrane permeability through phosphorylation of VDAC1

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

The NIMA-family kinase, Nek1 affects the stability of centrosomes and ciliogenesis

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

The mammalian Nek1 kinase is involved in primary cilium formation

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

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

2 June 2018

1 reference

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Distribution and intensity of constraint in mammalian genomic sequence

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Identification of proteins that interact with the central coiled-coil region of the human protein kinase NEK1

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

NEK1 mutations in familial amyotrophic lateral sclerosis.

2 June 2018

1 reference

Nek7 kinase accelerates microtubule dynamic instability.

21 January 2018

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Mutant dynactin in motor neuron disease.

21 January 2018

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Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

21 January 2018

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A solution to the problem of separation in logistic regression.

21 January 2018

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Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27455347

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.3626

1 reference

30 September 2017

1 reference

30 September 2017

1 reference