Evidence map›Paper›PMID 30101608›Full record

ArticleHuman gene therapy2019

Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice.

Smriti Agrawal Zaneveld, Aiden Eblimit, Qingnan Liang, Renae Bertrand, Nathaniel Wu, Hehe Liu, Quynh Nguyen, Jacques Zaneveld, Keqing Wang, Yumei Li and 1 more

Abstract read
In one paragraph

Article in Human gene therapy, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Smriti Agrawal Zaneveld1 Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Aiden Eblimit1 Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Qingnan Liang1 Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Renae Bertrand1 Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Nathaniel Wu1 Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Hehe Liu1 Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Quynh Nguyen3 Department of Biochemistry, Baylor College of Medicine, Houston, TX.
Jacques Zaneveld1 Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Keqing Wang1 Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Yumei Li1 Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Rui Chen1 Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.

Funding

Tumor BiologyP30CA125123 · NCI · BAYLOR COLLEGE OF MEDICINE · PI Michael M Ittmann · 2007 to 2026
$73.9M
VISION RESEARCH CENTERP30EY002520 · NEI · BAYLOR COLLEGE OF MEDICINE · PI Samuel M Wu · 1985 to 2026
$14.8M
GENETICS OF EARLY ONSET RETINAL DISEASESR01EY018571 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2008 to 2026
$7.2M
PROGRAM IN HUMAN MOLECULAR GENETICST32GM008307 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI SHAULSKY, GAD · 1990 to 2020
$6.6M
Molecular Basis of Human Visual System DisordersR01EY022356 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2012 to 2026
$6.1M
MOLECULAR GENETICS EMPHASIZING VISION RESEARCHT32EY007102 · NEI · BAYLOR COLLEGE OF MEDICINE · PI MARDON, GRAEME · 1988 to 2019
$3.8M
Molecular Mechanisms of Human Retinal DiseaseR01EY020540 · NEI · BAYLOR COLLEGE OF MEDICINE · PI CHEN, RUI, MARDON, GRAEME · 2011 to 2017
$2.3M
High Throughput Genomic Sequencer at BCM Core FacilityS10OD023469 · OD · BAYLOR COLLEGE OF MEDICINE · PI CHEN, RUI · 2017 to 2017
$600k
NCI NIH HHS P30 CA125123NEI NIH HHS P30 EY002520NEI NIH HHS R01 EY018571NEI NIH HHS R01 EY020540NEI NIH HHS R01 EY022356NEI NIH HHS T32 EY007102NIGMS NIH HHS T32 GM008307NIH HHS S10 OD023469
6 · The paper itself

Abstract

Hereditary retinal dystrophy is clinically defined as a broad group of chronic and progressive disorders that affect visual function by causing photoreceptor degeneration. Previously, we identified mutations in the gene encoding receptor expression-enhancing protein 6 (REEP6), in individuals with autosomal recessive retinitis pigmentosa (RP), the most common form of inherited retinal dystrophy. One individual was molecularly diagnosed with biallelic REEP6 mutations, a missense mutation over a frameshift mutation. In this study, we generated Reep6 compound heterozygous mice, Reep6

Indexed as

Genetic TherapyMutationAnimalsDependovirusDisease Models, AnimalElectrophysiological PhenomenaElectroretinographyEndoplasmic Reticulum StressEye ProteinsGene ExpressionGenetic VectorsGenotypeGuanylate CyclaseImmunohistochemistryLightMembrane ProteinsEye ProteinsGuanylate Cyclaseguanylate cyclase 1Membrane ProteinsReceptors, Cell SurfaceREEP6 protein, mouseblindnessgene therapyhuman diseaseinherited retinal dystrophyREEP6retinitis pigmentosa

Identifiers

PMID30101608
PMCPMC6437630

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.