Evidence map›Paper›PMID 37448631›Full record

ArticleMolecular genetics and metabolism reports2023

Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy.

Jason R McFadden, Christina Deanne P Tolete, Yan Huang, Ellen Macnamara, David Sept, Galina Nesterova, William A Gahl, Dan L Sackett, May Christine V Malicdan

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
2.2field-weighted citation impact, top 13% 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, 14 citations in OpenAlex.

  1. Missense variants in TUBA4A cause myo-tubulinopathies.Brain : a journal of neurology · 2026
    Article
  2. Article
  3. Article
  4. Article
  5. Mutation of beta-tubulin 4B gene (Molecular vision · 2025
    Article
  6. Article
  7. Article
  8. Observational
  9. Article
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

9 authors at 3 institutions in 1 country.

Jason R McFaddenNIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Christina Deanne P ToleteNIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Yan HuangNIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Ellen MacnamaraNIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
David SeptDepartments of Biomedical Engineering and Biophysics, University of Michigan, Ann Arbor, MI 48109, USA.
Galina NesterovaNIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
William A GahlNIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Dan L SackettEunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892, USA.
May Christine V MalicdanNIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
National Human Genome Research Institute · USEunice Kennedy Shriver National Institute of Child Health and Human Development · USUniversity of Michigan–Ann Arbor · US

Funding

Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6M
Microtubule regulation by small molecules.ZIAHD008765 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI SACKETT, DAN L · 2009 to 2025
$8.9M
Dynamic Regulation of the Actin Filament Barbed EndR01GM136822 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI SEPT, DAVID · 2020 to 2023
$1.2M
NIGMS NIH HHS R01 GM136822
6 · The paper itself

Abstract

Microtubules are cytoskeletal polymers of ⍺/β-tubulin heterodimers essential for a wide range of cellular processes. Pathogenic variations in microtubule-encoding genes (e.g.,

Indexed as

Fanconi syndromeMicrotubulesRare diseaseTranslational medicineTubulinopathies

Identifiers

PMID37448631
PMCPMC10336574
OpenAlexW4382877355

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.