Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants.

doi:10.1073/pnas.1803275115

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

Community

Back to search

Article

Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants.

Proceedings of the National Academy of Sciences of the United States of America - 24 Jul 2018

Tummala Hemanth, Dokal Arran D, Walne Amanda, Ellison Alicia, Cardoso Shirleny, Amirthasigamanipillai Saranha, Kirwan Michael, Browne Isobel, Sidhu Jasmin K, Rajeeve Vinothini, Rio-Machin Ana, Seraihi Ahad Al, Duncombe Andrew S, Jenner Matthew, Smith Owen P, Enright Helen, Norton Alice, Aksu Tekin, Özbek Namık Yaşar, Pontikos Nikolas, Cutillas Pedro, Dokal Inderjeet, Vulliamy Tom

Abstract excerpt

Biallelic variants in the ERCC excision repair 6 like 2 gene (ERCC6L2) are known to cause bone marrow failure (BMF) due to defects in DNA repair and mitochondrial function. Here, we report on eight cases of BMF from five families harboring biallelic variants in ERCC6L2, two of whom present with myelodysplasia. We confirm that ERCC6L2 patients' lymphoblastoid cell lines (LCLs) are hypersensitive to DNA-damaging...

Read the complete abstract on PubMed

Topics

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

Share to A549 Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bone Marrow Diseases

Share to DNA-Activated Protein Kinase

Share to DNA Helicases

Share to Genetic Diseases, Inborn

Share to Genomic Instability

Share to HeLa Cells

Share to RNA Polymerase II

Source

Open in PubMed Open full text

Identifiers

PMID: 29987015
DOI: 10.1073/pnas.1803275115
PMCID: PMC6064997

Genes

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

Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants.PMID 29987015Read ↗

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

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

The ERCC6L2-MRI-KU complex coordinates NHEJ at staggered DNA double-strand breaksSemantic proximity Read ↗

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

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

Mutation of cancer driver MLL2 results in transcription stress and genome instability.Semantic proximity Read ↗

DNA polymerase kappa stabilized by PTBP2 interacts with MRE11 and promotes genomic instability in leukemia cellsSemantic proximity Read ↗

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

KDM6 demethylases integrate DNA repair gene regulation and loss of KDM6A sensitizes human acute myeloid leukemia to PARP and BCL2 inhibitionSemantic proximity Read ↗

The SNF2‐like helicase HELLS mediates E2F3‐dependent transcription and cellular transformationSemantic proximity Read ↗

Mechanism of Bloom syndrome complex assembly required for double Holliday junction dissolution and genome stability.Semantic proximity Read ↗

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