Evidence map›Paper›PMID 35406695›Full record

ReviewCells2022

The Non-Linear Path from Gene Dysfunction to Genetic Disease: Lessons from the MICPCH Mouse Model.

Konark Mukherjee, Leslie E W LaConte, Sarika Srivastava

Open access · goldAbstract readReview
In one paragraph

Review in Cells, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.3field-weighted citation impact, top 19% 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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. 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

3 authors at 1 institution in 1 country.

Konark MukherjeeFralin Biomedical Research Institute at VTC, Roanoke, VA 24016, USA.
Leslie E W LaConteFralin Biomedical Research Institute at VTC, Roanoke, VA 24016, USA.ORCID 0000-0003-3747-0973
Sarika SrivastavaFralin Biomedical Research Institute at VTC, Roanoke, VA 24016, USA.ORCID 0000-0001-9634-5510
Biomedical Research Institute · US

Funding

Understanding the Etiology of CASK Associated Epileptic EncephalopathyR01NS117698 · NINDS · VIRGINIA POLYTECHNIC INST AND ST UNIV · PI Sarika Srivastava · 2021 to 2026
$1.9M
NINDS NIH HHS R01 NS117698
6 · The paper itself

Abstract

Most human disease manifests as a result of tissue pathology, due to an underlying disease process (pathogenesis), rather than the acute loss of specific molecular function(s). Successful therapeutic strategies thus may either target the correction of a specific molecular function or halt the disease process. For the vast majority of brain diseases, clear etiologic and pathogenic mechanisms are still elusive, impeding the discovery or design of effective disease-modifying drugs. The development of valid animal models and their proper characterization is thus critical for uncovering the molecular basis of the underlying pathobiological processes of brain disorders. MICPCH (microcephaly and pontocerebellar hypoplasia) is a monogenic condition that results from variants of an X-linked gene,

Indexed as

MicrocephalyNervous System MalformationsX-Linked Intellectual DisabilityAnimalsGuanylate KinasesMiceGuanylate KinasesCASKMICPCHpathogenesispontocerebellar hypoplasia

Identifiers

PMID35406695
PMCPMC8997851
OpenAlexW4221063895

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.