(Q24594444)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

NMNAT1 mutations cause Leber congenital amaurosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

Leber congenital amaurosis

9 February 2020

main subject

congenital disorder

0 references

1 reference

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Marni Falk

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Chitra Kannabiran

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Zoe Fonseca-Kelly

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Isabelle Audo

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Donna S. Mackay

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Christina Zeitz

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Eric A Pierce

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

22

Mark Consugar

1 reference

9 February 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

Qi Zhang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Eiko Nakamaru-Ogiso

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Christina Chakarova

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Arundhati Dev Borman

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Magdalena Staniszewska

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Rachna Shukla

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Lakshmi Palavalli

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Saddek Mohand-Said

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Naushin H Waseem

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Subhadra Jalali

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Juan C Perin

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Emily Place

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Julian Ostrovsky

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Rui Xiao

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Shomi S Bhattacharya

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Andrew R Webster

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Anthony T Moore

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Eliot L Berson

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Qin Liu

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Xiaowu Gai

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

language of work or name

English

0 references

publication date

29 July 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

volume

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

page(s)

1040-1045

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

A map of human genome variation from population-scale sequencing

9 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=3454532

Fast and accurate short read alignment with Burrows-Wheeler transform

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Safety and efficacy of gene transfer for Leber's congenital amaurosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Regulation of poly(ADP-ribose) polymerase 1 activity by the phosphorylation state of the nuclear NAD biosynthetic enzyme NMN adenylyl transferase 1

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

dbSNP: the NCBI database of genetic variation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

The Sequence Alignment/Map format and SAMtools

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Effect of gene therapy on visual function in Leber's congenital amaurosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

SIFT: Predicting amino acid changes that affect protein function

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Human non-synonymous SNPs: server and survey

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Comparative analysis of RNA-Seq alignment algorithms and the RNA-Seq unified mapper (RUM).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Reducing expression of NAD+ synthesizing enzyme NMNAT1 does not affect the rate of Wallerian degeneration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

SDM--a server for predicting effects of mutations on protein stability and malfunction

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Pathways and subcellular compartmentation of NAD biosynthesis in human cells: from entry of extracellular precursors to mitochondrial NAD generation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Wallerian degeneration, wld(s), and nmnat

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Identification of deleterious mutations within three human genomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

The NMN/NaMN adenylyltransferase (NMNAT) protein family.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Wld S requires Nmnat1 enzymatic activity and N16-VCP interactions to suppress Wallerian degeneration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Wld S protein requires Nmnat activity and a short N-terminal sequence to protect axons in mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Leber congenital amaurosis: genes, proteins and disease mechanisms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Nicotinic acid, nicotinamide, and nicotinamide riboside: a molecular evaluation of NAD+ precursor vitamins in human nutrition

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Perspective on genes and mutations causing retinitis pigmentosa

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

NAD+ metabolism in health and 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=3454532

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Characterization and prediction of alternative splice sites

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Pathways to photoreceptor cell death in inherited retinal degenerations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3454532

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36

27 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2361

Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2361

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.2361

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

9 February 2020

1049035810

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

PubMed publication ID

22842227

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22842227%20AND%20SRC:MED&resulttype=core&format=json