ArticleEuropean journal of human genetics : EJHG2017
Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Pooled it
- Distinct pathophysiological mechanisms of CEP152 variants in microcephaly and brain abnormalities.EMBO molecular medicine · 2026Article
- Polo-like kinase 4 (PLK4) as a therapeutic target in breast cancer.Carcinogenesis · 2025Review
- Role of PLK4 inhibition in cancer therapy.Cancer metastasis reviews · 2025Review
- Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.Medicina (Kaunas, Lithuania) · 2024Article
- Inhibition of Aberrantly Overexpressed Polo-like Kinase 4 Is a Potential Effective Treatment for DNA Damage Repair-Deficient Uterine Leiomyosarcoma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.Cells · 2023Review
- Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.Human genetics · 2022Article
- PLK4 is upregulated in prostate cancer and its inhibition reduces centrosome amplification and causes senescence.The Prostate · 2022Article
- PLK4 initiates crosstalk between cell cycle, cell proliferation and macrophages infiltration in gliomas.Frontiers in oncology · 2022Article
- Two novel variants inFrontiers in genetics · 2022Article
- Time is of the essence: the molecular mechanisms of primary microcephaly.Genes & development · 2021Review
- Polo-Like Kinase 4's Critical Role in Cancer Development and Strategies for Plk4-Targeted Therapy.Frontiers in oncology · 2021Review
- Multiple roles of DNA2 nuclease/helicase in DNA metabolism, genome stability and human diseases.Nucleic acids research · 2020Review
- A Child with Seckel Syndrome and Arterial Stenosis: Case Report and Literature Review.International medical case reports journal · 2020Article
- Evaluation of Protein Kinase Inhibitors with PLK4 Cross-Over Potential in a Pre-Clinical Model of Cancer.International journal of molecular sciences · 2019Article
- Precision Revisited: Targeting Microcephaly Kinases in Brain Tumors.International journal of molecular sciences · 2019Review
- Impact of DNA repair and stability defects on cortical development.Cellular and molecular life sciences : CMLS · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microcephalic primordial dwarfism (MPD) is a group of autosomal recessive inherited single-gene disorders with intrauterine and postnatal global growth failure. Seckel syndrome is the most common form of the MPD. Ten genes are known with Seckel syndrome. Using genome-wide SNP genotyping and homozygosity mapping we mapped a Seckel syndrome gene to chromosomal region 4q28.1-q28.3 in a Turkish family. Direct sequencing of PLK4 (polo-like kinase 4) revealed a homozygous splicing acceptor site transition (c.31-3 A>G) that results in a premature translation termination (p.[=,Asp11Profs*14]) causing deletion of all known functional domains of the protein. PLK4 is a master regulator of centriole biogenesis and its deficiency has recently been associated with Seckel syndrome. However, the role of PLK4 in genomic stability and the DNA damage response is unclear. Evaluation of the PLK4-Seckel fibroblasts obtained from patient revealed the expected impaired centriole biogenesis, disrupted mitotic morphology, G
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Registered trials
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.