Evidence map›Paper›PMID 30027902›Full record

ReviewJournal of genetics2018

Models and mechanisms of repeat expansion disorders: a worm's eye view.

Paige Rudich, Todd Lamitina

Abstract readReview
In one paragraph

Review in Journal of genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.5field-weighted citation impact, top 41% of its field
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

3 citing papers in PubMed, 8 citations in OpenAlex.

  1. Gene editing and its applications in biomedicine.Science China. Life sciences · 2022
    Review
  2. Article
  3. Review
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

2 authors at 1 institution in 1 country.

Paige RudichGraduate Program in Cell Biology and Molecular Physiology, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA. stl52@pitt.edu.
Todd Lamitina
University of Pittsburgh Medical Center · US

Funding

Bipartite regulation of cellular osmosensing in C. elegansR01GM105655 · NIGMS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LAMITINA, SAMUEL T · 2014 to 2017
$1.2M
Mechanisms of C9orf72-associated dipeptide toxicityR21NS094921 · NINDS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LAMITINA, SAMUEL T, PANDEY, UDAI B · 2015 to 2016
$424k
Modifiers of C9orf72 associated dipeptide protein toxicity in a C. elegans modelR21NS096319 · NINDS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LAMITINA, SAMUEL T · 2016 to 2017
$410k
NIGMS NIH HHS R01 GM105655NINDS NIH HHS R21 NS096319
6 · The paper itself

Abstract

The inappropriate genetic expansion of various repetitive DNA sequences underlies over 20 distinct inherited diseases. The genetic context of these repeats in exons, introns and untranslated regions has played a major role in thinking about the mechanisms by which various repeat expansions might cause disease. Repeat expansions in exons are thought to give rise to expanded toxic protein repeats (i.e. polyQ). Repeat expansions in introns and UTRs (i.e. FXTAS) are thought to produce aberrant repeat-bearing RNAs that interact with and sequester a wide variety of essential proteins, resulting in cellular toxicity. However, a new phenomenon termed 'repeat-associated nonAUG dependent (RAN) translation' paints a new and unifying picture of how distinct repeat expansion-bearing RNAs might act as substrates for this noncanonical form of translation, leading to the production of a wide range of repeat sequence-specific-encoded toxic proteins. Here, we review how the model system

Indexed as

AnimalsAtaxiaCaenorhabditis elegansDisease Models, AnimalFragile X SyndromeHumansTremorTrinucleotide Repeat Expansion

Identifiers

PMID30027902
PMCPMC6482835
OpenAlexW2883154711

What OpenQuestion holds

Textmetadata
LicenceTDM
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.