Evidence map›Paper›PMID 32988999›Full record

ArticleDisease models & mechanisms2020

A novel hypomorphic allele of

Zakia Abdelhamed, Marshall Lukacs, Sandra Cindric, Saima Ali, Heymut Omran, Rolf W Stottmann

Erratum issuedAbstract read
In one paragraph

Article in Disease models & mechanisms, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Article
  2. Article
  3. Case Report: A homozygous mutation in theFrontiers in reproductive health · 2025
    Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors.

Zakia AbdelhamedDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Marshall LukacsDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Sandra CindricDepartment of General Pediatrics, University Children's Hospital Münster, 48149 Münster, Germany.
Saima AliDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Heymut OmranDepartment of General Pediatrics, University Children's Hospital Münster, 48149 Münster, Germany.
Rolf W StottmannDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA rolf.stottmann@cchmc.org.ORCID 0000-0003-4512-6806

Funding

Medical Scientist Training ProgramT32GM063483 · NIGMS · UNIVERSITY OF CINCINNATI · PI KHURANA HERSHEY, GURJIT K. · 2002 to 2022
$6.7M
Forward Genetic Analysis of Congenital Defects in Cortical Circuits and StructureR01NS085023 · NINDS · CINCINNATI CHILDRENS HOSP MED CTR · PI STOTTMANN, ROLF W · 2014 to 2018
$2.3M
Molecular Analysis of primary cilia proteins in human development and diseaseR35GM131875 · NIGMS · RESEARCH INST NATIONWIDE CHILDREN'S HOSP · PI STOTTMANN, ROLF W · 2019 to 2023
$2.0M
NIGMS NIH HHS R35 GM131875NIGMS NIH HHS T32 GM063483NINDS NIH HHS R01 NS085023
6 · The paper itself

Abstract

Primary ciliary dyskinesia (PCD) is a human condition of dysfunctional motile cilia characterized by recurrent lung infection, infertility, organ laterality defects and partially penetrant hydrocephalus. We recovered a mouse mutant from a forward genetic screen that developed many of the hallmark phenotypes of PCD. Whole-exome sequencing identified this primary ciliary dyskinesia only (

Indexed as

AllelesAnimalsAnimals, NewbornBase SequenceBone DevelopmentCiliaCiliary Motility DisordersEpithelial CellsHydrocephalusMiceMice, Inbred C57BLMicroscopy, VideoMicrospheresMicrotubule ProteinsMutationOrganogenesisMicrotubule ProteinsSPAG17 protein, mouseCiliaHydrocephalusInfertilityLungPrimary ciliary dyskinesiaSpag17

Identifiers

PMID32988999
PMCPMC7648611

What OpenQuestion holds

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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.