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

ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolution

15 Feb 2023

Abstract excerpt

ERCC excision repair 6 like 2 (ERCC6L2) gene encodes for different helicase-like protein members of the Snf2 family involved in transcription-coupled nucleotide excision repair and in cell proliferation. Germline homozygous mutations in children and adults predispose to a peculiar bone marrow failure phenotype characterized by mild hematological alterations with a high risk of developing acute myeloid leukemia....

Read the complete abstract on PubMed

Topics

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

Share to Acute Lymphoblastic Leukemia research
Share to Acute Myeloid Leukemia Research
Share to DNA Repair Mechanisms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36790458
DOI: 10.1007/s00277-023-05128-2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolutionPMID 36790458Read ↗

The Clinical Picture of the ERCC6L2 Disease - from Bone Marrow Failure to Acute LeukemiaSemantic proximity Read ↗

ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.Semantic proximity Read ↗

ERCC6L2-associated inherited bone marrow failure syndrome.Semantic proximity Read ↗

Germline ERCC excision repair 6 like 2 ( ERCC6L2 ) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironmentSemantic proximity Read ↗

Emerging bone marrow failure syndromes- new pieces to an unsolved puzzleSemantic proximity Read ↗

Germline Variants and Characteristic Features of Hereditary Hematological Malignancy SyndromeSemantic proximity Read ↗

Germline Variants and Characteristic Features of Hereditary Hematological Malignancy SyndromeSemantic proximity Read ↗

Germline DDX41 mutations in myeloid neoplasms: a comprehensive review.Semantic proximity Read ↗

Distinct Stem Cell Identities Converge into Shared Erythroid Stress in ERCC6L2 Disease and Shwachman-Diamond SyndromeSemantic proximity Read ↗

A pan-cancer analysis of the oncogenic role of ERCC6LSemantic proximity Read ↗

DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype PatternsSemantic proximity Read ↗

Clinical and molecular spectrum and prognostic outcomes of U2AF1 mutant clonal hematopoiesis- a prospective mayo clinic cohort study.Semantic proximity Read ↗

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