Evidence map›Paper›PMID 34383976›Full record

ArticleFASEB journal : official publication of the Federation of American Societies for Experimental Biology2021

Gene therapy rescues olfactory perception in a clinically relevant ciliopathy model of Bardet-Biedl syndrome.

Chao Xie, Julien C Habif, Cedric R Uytingco, Kirill Ukhanov, Lian Zhang, Carlos de Celis, Val C Sheffield, Jeffrey R Martens

Open access · greenAbstract read
In one paragraph

Article in FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
1.6field-weighted citation impact, top 16% 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

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Artificial Olfactory Biohybrid System: An Evolving Sense of Smell.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023
    Review
  6. Article
  7. Article
  8. Article
  9. 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

8 authors at 2 institutions in 1 country.

Chao XieDepartment of Pharmacology and Therapeutics, University of Florida College of Medicine, Gainesville, FL, USA.ORCID https://orcid.org/0000-0001-7645-1922
Julien C HabifDepartment of Pharmacology and Therapeutics, University of Florida College of Medicine, Gainesville, FL, USA.ORCID https://orcid.org/0000-0002-4661-3115
Cedric R UytingcoDepartment of Pharmacology and Therapeutics, University of Florida College of Medicine, Gainesville, FL, USA.
Kirill UkhanovDepartment of Pharmacology and Therapeutics, University of Florida College of Medicine, Gainesville, FL, USA.
Lian ZhangDepartment of Pharmacology and Therapeutics, University of Florida College of Medicine, Gainesville, FL, USA.
Carlos de CelisDepartment of Pharmacology and Therapeutics, University of Florida College of Medicine, Gainesville, FL, USA.
Val C SheffieldDivision of Medical Genetics and Genomics, Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
Jeffrey R MartensDepartment of Pharmacology and Therapeutics, University of Florida College of Medicine, Gainesville, FL, USA.
University of Florida · USUniversity of Iowa · US

Funding

Maintenance and Disassembly of Olfactory CiliaR01DC019345 · NIDCD · UNIVERSITY OF VIRGINIA · PI MARTENS, JEFFREY · 2021 to 2025
$2.1M
Training Program in Chemosensory ScienceT32DC015994 · NIDCD · UNIVERSITY OF FLORIDA · PI Daniel W Wesson · 2018 to 2026
$1.4M
NIDCD NIH HHS R01 DC019345NIDCD NIH HHS T32 DC015994
6 · The paper itself

Abstract

Bardet-Biedl syndrome (BBS) is a hereditary genetic disorder that results in numerous clinical manifestations including olfactory dysfunction. Of at least 21 BBS-related genes that can carry multiple mutations, a pathogenic mutation, BBS1M390R, is the single most common mutation of clinically diagnosed BBS outcomes. While the deletion of BBS-related genes in mice can cause variable penetrance in different organ systems, the impact of the Bbs1M390R mutation in the olfactory system remains unclear. Using a clinically relevant knock-in mouse model homozygous for Bbs1M390R, we investigated the impact of the mutation on the olfactory system and tested the potential of viral-mediated, wildtype gene replacement therapy to rescue smell loss. The cilia of olfactory sensory neurons (OSNs) in Bbs1

Indexed as

AnimalsBardet-Biedl SyndromeCiliaCiliopathiesDisease Models, AnimalFemaleGenetic TherapyMaleMiceMicrotubule-Associated ProteinsMutationOlfactory BulbOlfactory PerceptionSensory Receptor CellsSmellMicrotubule-Associated ProteinsBardet-Biedl syndromeciliopathiesgene therapyolfactory ciliaolfactory perceptionwhole body plethysmography

Identifiers

PMID34383976
PMCPMC8785972
OpenAlexW3189231398

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.