PRUNE1: a disease-causing gene for secondary microcephaly.

Mert Karakaya, Sanem Yilmaz, Markus Storbeck, Irmgard Hoelker, Raoul Heller, Gül Serdaroglu, Sarenur Gökben, Uluc Yis, Brunhilde Wirth

Abstract readLetterComment

PubMed Publisher

In one paragraph

Article in Brain : a journal of neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it

0cells of the map it votes in

5citing papers in PubMed

–field-weighted citation impact

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

5 citing papers in PubMed.

Neuroimaging in PRUNE1 syndrome: a mini-review of the literature.Frontiers in neurology · 2023
Review
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.American journal of medical genetics. Part A · 2022
Review
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene.BMC medical genomics · 2022
Article
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.Human molecular genetics · 2021
Article
Functional Genomics of PRUNE1 in Neurodevelopmental Disorders (NDDs) Tied to Medulloblastoma (MB) and Other Tumors.Frontiers in oncology · 2021
Review

4 · The record

Corrections and comments

Commented on by
Reply: PRUNE1: a disease-causing gene for secondary microcephaly.2017
Comment on
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.2017

5 · Who and what money

Authors and funding

9 authors.

Mert KarakayaInstitute of Human Genetics, Center for Molecular Medicine Cologne, and Institute of Genetics, University of Cologne, Cologne, Germany.

Sanem YilmazEge University, Department of Pediatric Neurology, Izmir, Turkey.

Markus StorbeckInstitute of Human Genetics, Center for Molecular Medicine Cologne, and Institute of Genetics, University of Cologne, Cologne, Germany.

Irmgard HoelkerInstitute of Human Genetics, Center for Molecular Medicine Cologne, and Institute of Genetics, University of Cologne, Cologne, Germany.

Raoul HellerInstitute of Human Genetics, Center for Molecular Medicine Cologne, and Institute of Genetics, University of Cologne, Cologne, Germany.

Gül SerdarogluEge University, Department of Pediatric Neurology, Izmir, Turkey.

Sarenur GökbenEge University, Department of Pediatric Neurology, Izmir, Turkey.

Uluc YisDokuz Eylül University, Department of Pediatric Neurology, Izmir, Turkey.

Brunhilde WirthInstitute of Human Genetics, Center for Molecular Medicine Cologne, and Institute of Genetics, University of Cologne, Cologne, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

MicrocephalyBrainHumansPedigree

Identifiers

PMID28969376

DOI10.1093/brain/awx197

What OpenQuestion holds

Textmetadata

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.