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

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

29 Nov 2018

Abstract excerpt

During genome replication, polymerase epsilon (Pol ε) acts as the major leading-strand DNA polymerase. Here we report the identification of biallelic mutations in POLE, encoding the Pol ε catalytic subunit POLE1, in 15 individuals from 12 families. Phenotypically, these individuals had clinical features closely resembling IMAGe syndrome (intrauterine growth restriction [IUGR], metaphyseal dysplasia, adrenal...

Read the complete abstract on PubMed

Topics

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

Share to DNA Repair Mechanisms
Share to Genetic factors in colorectal cancer
Share to Genetics and Neurodevelopmental Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30503519
DOI: 10.1016/j.ajhg.2018.10.024

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable ImmunodeficiencyPMID 30503519Read ↗

Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis.Semantic proximity Read ↗

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)Semantic proximity Read ↗

Pan-cancer multi-omics analysis identifies non-canonical oncogenic functions beyond DNA replication of the POLE2 subunit of DNA Polymerase epsilonSemantic proximity Read ↗

DNA polymerase ε and its roles in genome stabilitySemantic proximity Read ↗

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.Semantic proximity Read ↗

The evolving tale of Pol2 function.Semantic proximity Read ↗

Phenotypic continuum between POLE-related recessive disorders: A case report and literature review.Semantic proximity Read ↗

DNA polymerase epsilon catalytic subunit (POLE) in cancer: Implications for tumor biology and therapeutic strategies - A comprehensive review.Semantic proximity Read ↗

Replication DNA polymerases, genome instability and cancer therapiesSemantic proximity Read ↗

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.Semantic proximity Read ↗

Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers.Semantic proximity Read ↗

Lymphocyte-Specific Function of the DNA Polymerase Epsilon Subunit Pole3 Revealed by Neomorphic Alleles.Semantic proximity Read ↗

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