Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.

European journal of human genetics : EJHG - 1 Oct 2017

Dinçer Tuba, Yorgancıoğlu-Budak Gülden, Ölmez Akgün, Er İdris, Dodurga Yavuz, Özdemir Özmert Ma, Toraman Bayram, Yıldırım Adem, Sabir Nuran, Akarsu Nurten A, Semerci C Nur, Kalay Ersan

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Centrosome
Share to Chromosomes, Human, Pair 4

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Damage

Share to Dwarfism

Share to Genomic Instability

Share to Microcephaly

Share to Mitosis

Share to RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 28832566
DOI: 10.1038/ejhg.2017.120
PMCID: PMC5602021

Genes

PLK4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.PMID 28832566Read ↗

[Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism].Semantic proximity Read ↗

Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism.Semantic proximity Read ↗

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.Semantic proximity Read ↗

Mechanisms and pathways of growth failure in primordial dwarfism.Semantic proximity Read ↗

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.Semantic proximity Read ↗

Primordial dwarfism: an update.Semantic proximity Read ↗

Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.Semantic proximity Read ↗

Genomic analysis of primordial dwarfism reveals novel disease genes.Semantic proximity Read ↗

Novel CENPJ mutation causes Seckel syndrome.Semantic proximity Read ↗

CtIP Mutations Cause Seckel and Jawad SyndromesSemantic proximity Read ↗

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.Semantic proximity Read ↗

Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.