Evidence map›Paper›PMID 21441906›Full record

ArticleNature2011

Loss-of-function mutations in sodium channel Nav1.7 cause anosmia.

Jan Weiss, Martina Pyrski, Eric Jacobi, Bernd Bufe, Vivienne Willnecker, Bernhard Schick, Philippe Zizzari, Samuel J Gossage, Charles A Greer, Trese Leinders-Zufall and 3 more

Abstract read
In one paragraph

Article in Nature, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 139 papers.

0numbers the graph read from it
0cells of the map it votes in
139citing papers in PubMed
12.2field-weighted citation impact, top 1% 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

139 citing papers in PubMed, 292 citations in OpenAlex.

  1. Trial
  2. Review
  3. Targeting Supramolecular Active Complexes of NaAdvanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026
    Article
  4. Article
  5. Review
  6. Review
  7. Review
  8. Article
  9. Article
  10. Review
  11. Review
  12. Review
  13. Article
  14. Article
  15. Review
  16. Role of NaThe Journal of physiology · 2024
    Article
  17. Article
  18. Article
  19. Article
  20. Article

79 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

13 authors at 5 institutions in 5 countries.

Jan WeissDepartment of Physiology, University of Saarland School of Medicine, 66421 Homburg, Germany.
Martina Pyrski
Eric Jacobi
Bernd Bufe
Vivienne Willnecker
Bernhard Schick
Philippe Zizzari
Samuel J Gossage
Charles A Greer
Trese Leinders-Zufall
C Geoffrey Woods
John N Wood
Frank Zufall
Saarland University · DEUniversity College London · GBAddenbrooke's Hospital · GBUniversité Paris Cité · FRYale University · US

Funding

GENETIC DETERMINANTS OF LOCAL CIRCUIT ORGANIZATIONR01DC000210 · NIDCD · YALE UNIVERSITY · PI GREER, CHARLES A · 1989 to 2013
$4.2M
Biotechnology and Biological Sciences Research Council BB/F000227/1Medical Research Council G0901905NIDCD NIH HHS R01 DC000210Wellcome Trust
6 · The paper itself

Abstract

Loss of function of the gene SCN9A, encoding the voltage-gated sodium channel Na(v)1.7, causes a congenital inability to experience pain in humans. Here we show that Na(v)1.7 is not only necessary for pain sensation but is also an essential requirement for odour perception in both mice and humans. We examined human patients with loss-of-function mutations in SCN9A and show that they are unable to sense odours. To establish the essential role of Na(v)1.7 in odour perception, we generated conditional null mice in which Na(v)1.7 was removed from all olfactory sensory neurons. In the absence of Na(v)1.7, these neurons still produce odour-evoked action potentials but fail to initiate synaptic signalling from their axon terminals at the first synapse in the olfactory system. The mutant mice no longer display vital, odour-guided behaviours such as innate odour recognition and avoidance, short-term odour learning, and maternal pup retrieval. Our study creates a mouse model of congenital general anosmia and provides new strategies to explore the genetic basis of the human sense of smell.

Indexed as

Action PotentialsAnimalsBehavior, AnimalDisease Models, AnimalFemaleGene Expression ProfilingHumansMaleMiceMutant ProteinsMutationNAV1.7 Voltage-Gated Sodium ChannelOdorantsOlfaction DisordersOlfactory MucosaOlfactory PathwaysMutant ProteinsNAV1.7 Voltage-Gated Sodium ChannelSCN9A protein, humanScn9a protein, mouseSodium Channels

Identifiers

PMID21441906
PMCPMC3674497
OpenAlexW2108652707

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.