Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. (Q37320277)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

0 references

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Caroline Van Cauwenbergh

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

author name string

Anne Laure Todeschini

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Takuro Fujimaki

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Annelot Baert

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Hannah Verdin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Miriam Bauwens

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Mineo Kondo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Françoise Meire

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Akira Murakami

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Reiner A Veitia

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Bart P Leroy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

language of work or name

1 reference

1 October 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

page(s)

1188-1196

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

23 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=5054839

Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Axonal transport plays a crucial role in mediating the axon-protective effects of NmNAT

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Protection of mouse retinal ganglion cell axons and soma from glaucomatous and ischemic injury by cytoplasmic overexpression of Nmnat1.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

NMNAT1 mutations cause Leber congenital amaurosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Searching for non-B DNA-forming motifs using nBMST (non-B DNA motif search tool)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Performance comparison of exome DNA sequencing technologies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Copy-Number Variations inEYS:A Significant Event in the Appearance of arRP

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Wallerian degeneration, wld(s), and nmnat

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Accurate and objective copy number profiling using real-time quantitative PCR.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

How to do successful gene expression analysis using real-time PCR.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Mechanisms of change in gene copy number

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Leber congenital amaurosis: genes, proteins and disease mechanisms

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Primer3Plus, an enhanced web interface to Primer3

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

LZIC regulates neuronal survival during zebrafish development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Structure of human nicotinamide/nicotinic acid mononucleotide adenylyltransferase. Basis for the dual substrate specificity and activation of the oncolytic agent tiazofurin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

EMBOSS: the European Molecular Biology Open Software Suite

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Expression of PRPF31 and TFPT: regulation in health and retinal disease.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

QGRS Mapper: a web-based server for predicting G-quadruplexes in nucleotide sequences

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

PRPF4 mutations cause autosomal dominant retinitis pigmentosa

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Identification and analysis of inherited retinal disease genes

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

RepeatAround: a software tool for finding and visualizing repeats in circular genomes and its application to a human mtDNA database

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5054839

[Diagnostic and prognostic importance of the electroretinogram in tapetoretinal degeneration with reduction of the visual field and hemeralopia]

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26316326

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22899

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

PubMed publication ID

26316326

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json