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

Mutational survivorship bias: The case of PNKP.

PloS one - 1 Jan 2020

Bermúdez-Guzmán Luis, Jimenez-Huezo Gabriel, Arguedas Andrés, Leal Alejandro

Abstract excerpt

The molecular function of a protein relies on its structure. Understanding how variants alter structure and function in multidomain proteins is key to elucidate the generation of a pathological phenotype. However, one may fall into the logical bias of assessing protein damage only based on the variants that are visible (survivorship bias), which can lead to partial conclusions. This is the case of PNKP, an...

Read the complete abstract on PubMed

Topics

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

Share to Cell Nucleus
Share to DNA-Binding Proteins
Share to DNA Damage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Repair

Share to DNA Repair Enzymes

Share to Mitochondria

Share to Phosphoric Monoester Hydrolases

Share to Phosphotransferases (Alcohol Group Acceptor)

Source

Open in PubMed Open full text

Identifiers

PMID: 33332469
DOI: 10.1371/journal.pone.0237682
PMCID: PMC7746193

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutational survivorship bias: The case of PNKP.PMID 33332469Read ↗

Mutational Survivorship Bias: The case of PNKPSemantic proximity Read ↗

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.Semantic proximity Read ↗

Defining the molecular tolerance-to-damage landscape of SMARCA4 helicase genetic alterationsSemantic proximity Read ↗

Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease.Semantic proximity Read ↗

A survey of proteins encoded by non-synonymous single nucleotide polymorphisms reveals a significant fraction with altered stability and activity.Semantic proximity Read ↗

Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZSemantic proximity Read ↗

Congenital disease SNPs target lineage specific structural elements in protein kinases.Semantic proximity Read ↗

Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor.Semantic proximity Read ↗

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.Semantic proximity Read ↗

Cancer-associated mutations are preferentially distributed in protein kinase functional sites.Semantic proximity Read ↗

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.Semantic proximity Read ↗

The Role of Natural Polymorphic Variants of DNA Polymerase β in DNA RepairSemantic proximity Read ↗

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