Evidence map›Paper›PMID 34680889›Full record

ArticleGenes2021

A Homozygous

Syeda Seema Waseem, Abubakar Moawia, Birgit Budde, Muhammad Tariq, Ayaz Khan, Zafar Ali, Sheraz Khan, Maria Iqbal, Naveed Altaf Malik, Saif Ul Haque and 6 more

Open access · goldAbstract read
In one paragraph

Article in Genes, 2021. 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
0.5field-weighted citation impact, top 29% 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

5 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Review
  5. 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

16 authors at 5 institutions in 2 countries.

Syeda Seema WaseemCologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
Abubakar MoawiaCologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
Birgit BuddeCologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.ORCID 0000-0001-9385-4168
Muhammad TariqHuman Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), PIEAS, Faisalabad 38000, Pakistan.ORCID 0000-0002-5334-403X
Ayaz KhanHuman Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), PIEAS, Faisalabad 38000, Pakistan.ORCID 0000-0002-4743-7387
Zafar AliCenter for Biotechnology and Microbiology, University of Swat, Swat 19130, Pakistan.ORCID 0000-0002-2389-3337
Sheraz KhanHuman Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), PIEAS, Faisalabad 38000, Pakistan.ORCID 0000-0003-3207-4074
Maria IqbalCologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
Naveed Altaf MalikHuman Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), PIEAS, Faisalabad 38000, Pakistan.
Saif Ul HaqueNuclear Medicine, Oncology and Radiotherapy Institute (NORI), PAEC, Islamabad 44000, Pakistan.
Janine AltmüllerCologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
Holger ThieleCologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
Muhammad Sajid HussainCologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.ORCID 0000-0002-1353-8809
Sebahattin CirakCenter for Molecular Medicine Cologne (CMMC), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
Shahid Mahmood BaigHuman Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), PIEAS, Faisalabad 38000, Pakistan.
Peter NürnbergCologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.ORCID 0000-0002-7228-428X
University of Cologne · DENational Institute for Biotechnology and Genetic Engineering · PKAga Khan University · PKPakistan Atomic Energy Commission · PKUniversity of Swat · PK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Primary microcephaly (MCPH) is a prenatal condition of small brain size with a varying degree of intellectual disability. It is a heterogeneous genetic disorder with 28 associated genes reported so far. Most of these genes encode centrosomal proteins. Recently, AKNA was recognized as a novel centrosomal protein that regulates neurogenesis via microtubule organization, making

Indexed as

Genetic Predisposition to DiseaseAdolescentCentrosomeCerebral CortexChildDNA-Binding ProteinsExome SequencingFemaleFrameshift MutationGenetic LinkageHaplotypesHomozygoteHumansIntellectual DisabilityMaleMicrocephalyAKNA protein, humanDNA-Binding ProteinsNuclear ProteinsTranscription FactorsAKNAautosomal recessive primary microcephaly (MCPH)cerebral cortexlinkage/haplotype analysiswhole-exome sequencing (WES)

Identifiers

PMID34680889
PMCPMC8535656
OpenAlexW3203406622

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.