(Q36402513)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Tasneem P Sharma

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Steven R. Lentz

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Budd A. Tucker

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Robert F. Mullins

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Todd E. Scheetz

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Edwin M. Stone

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Diane C Slusarski

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

author name string

Adam P DeLuca

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Jenna Barnes

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Trudi A Westfall

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

C Anthony Scott

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Matthew C Weed

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Jill S Wiley

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Rebecca M Johnston

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Michael J Schnieders

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Luke A Wiley

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

language of work or name

1 reference

22 October 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

volume

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

page(s)

44-56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

28 February 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4690490/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

On-enzyme refolding permits small RNA and tRNA surveillance by the CCA-adding enzyme

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

CDD: NCBI's conserved domain database

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Gene therapy using stem cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Sensory hair cell regeneration in the zebrafish lateral line

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Stem cells for investigation and treatment of inherited retinal disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

CRISPR-Cas systems for editing, regulating and targeting genomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Characterization of human induced pluripotent stem cell-derived retinal pigment epithelium cell sheets aiming for clinical application.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Genes and mutations causing retinitis pigmentosa

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Prioritization of retinal disease genes: an integrative approach

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Treating iron overload in patients with non-transfusion-dependent thalassemia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Mechanisms of prickle1a function in zebrafish epilepsy and retinal neurogenesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Use of a synthetic xeno-free culture substrate for induced pluripotent stem cell induction and retinal differentiation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Copy number variation detection and genotyping from exome sequence data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Developments in RNA splicing and disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

A map of human genome variation from population-scale sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

tRNA nucleotidyltransferases: ancient catalysts with an unusual mechanism of polymerization.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Current status of the AMOEBA polarizable force field

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Generation, purification and transplantation of photoreceptors derived from human induced pluripotent stem cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Clustal W and Clustal X version 2.0

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Efficient generation of retinal progenitor cells from human embryonic stem cells.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

An annotated cDNA library of juvenile Euprymna scolopes with and without colonization by the symbiont Vibrio fischeri

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Analysis of hematopoietic development in the zebrafish.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Retinal oxygen: fundamental and clinical aspects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Zebrafish as a model for hearing and deafness.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

BLAT—The BLAST-Like Alignment Tool

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Heme-regulated eIF2alpha kinase (HRI) is required for translational regulation and survival of erythroid precursors in iron deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

tRNAscan-SE: a program for improved detection of transfer RNA genes in genomic sequence

30 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

30 September 2017

https://api.crossref.org/works/10.1093%2FHMG%2FDDV446

Stages of embryonic development of the zebrafish

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

The development of vision in the zebrafish (Danio rerio).

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Polarizable atomic multipole X-ray refinement: weighting schemes for macromolecular diffraction

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Btrim: a fast, lightweight adapter and quality trimming program for next-generation sequencing technologies.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Requirement for intracellular calcium modulation in zebrafish dorsal-ventral patterning

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4690490

Cutadapt removes adapter sequences from high-throughput sequencing reads

21 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDV446

An analysis of allelic variation in the ABCA4 gene

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26494905

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/26494905

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDV446

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

PubMed publication ID

26494905

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26494905%20AND%20SRC:MED&resulttype=core&format=json