| ERCC6L2 mitigates replication stress and promotes centromere stability. | ERCC6L2 mitigates replication stress and promotes centromere stability.
Carnie CJ, Armstrong L, Sebesta M, Ariza A, Wang X, Graham E, Zhu K, Ahel D. | 10/6/2023 |
| ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolution. | ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolution.
Baccelli F, Leardini D, Cerasi S, Messelodi D, Bertuccio SN, Masetti R., Free PMC Article | 03/15/2023 |
| Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment. | Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment.
Armes H, Bewicke-Copley F, Rio-Machin A, Di Bella D, Philippe C, Wozniak A, Tummala H, Wang J, Ezponda T, Prosper F, Dokal I, Vulliamy T, Kilpivaara O, Wartiovaara-Kautto U, Fitzgibbon J, Rouault-Pierre K., Free PMC Article | 12/3/2022 |
| Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype. | Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.
Ewing AD, Cheetham SW, McGill JJ, Sharkey M, Walker R, West JA, West MJ, Summers KM., Free PMC Article | 01/8/2022 |
| Functional Radiogenetic Profiling Implicates ERCC6L2 in Non-homologous End Joining. | Functional Radiogenetic Profiling Implicates ERCC6L2 in Non-homologous End Joining.
Francica P, Mutlu M, Blomen VA, Oliveira C, Nowicka Z, Trenner A, Gerhards NM, Bouwman P, Stickel E, Hekkelman ML, Lingg L, Klebic I, van de Ven M, de Korte-Grimmerink R, Howald D, Jonkers J, Sartori AA, Fendler W, Chapman JR, Brummelkamp T, Rottenberg S. | 06/5/2021 |
| We report a direct association of a homozygous truncating germ line mutation in ERCC6L2 with a specific high-risk leukemia subtype | ERCC6L2 defines a novel entity within inherited acute myeloid leukemia.
Douglas SPM, Siipola P, Kovanen PE, Pyörälä M, Kakko S, Savolainen ER, Salmenniemi U, Orte K, Kytölä S, Pitkänen E, Porkka K, Kilpivaara O, Wartiovaara-Kautto U. | 01/11/2020 |
| Study found that rs591486 was associated with an increased risk of amyotrophic lateral sclerosis. Moreover, we found that rs591486 ERCC6L2 influences the age of onset of amyotrophic lateral sclerosis with limb onset. | ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population.
Dardiotis E, Karampinis E, Siokas V, Aloizou AM, Rikos D, Ralli S, Papadimitriou D, Bogdanos DP, Hadjigeorgiou GM. | 12/7/2019 |
| We report 2 cases of bone marrow failure with no extra-hematopoietic manifestations in patients from unrelated families with a homozygous truncating mutation in ERCC6L2. Bone marrow failure without developmental delay or microcephaly with ERCC6L2 mutation has not been previously described. | Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene.
Järviaho T, Halt K, Hirvikoski P, Moilanen J, Möttönen M, Niinimäki R. | 08/3/2019 |
| ERCC6L2-associated disorder has recently been described. We identified an additional case through whole-exome sequencing. At the age of 9 years, the patient underwent whole exome sequencing and was discovered to have a homozygous stop mutation in ERCC6L2 (NCBI RefSeq NG_034107.1), c.1687C>T (p.Arg563*). | ERCC6L2-associated inherited bone marrow failure syndrome.
Shabanova I, Cohen E, Cada M, Vincent A, Cohn RD, Dror Y., Free PMC Article | 10/20/2018 |
| The inherited bone marrow failure syndrome caused by biallelic variants in ERCC6L2 can be considered as a primary transcription deficiency rather than a DNA repair defect | Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants.
Tummala H, Dokal AD, Walne A, Ellison A, Cardoso S, Amirthasigamanipillai S, Kirwan M, Browne I, Sidhu JK, Rajeeve V, Rio-Machin A, Seraihi AA, Duncombe AS, Jenner M, Smith OP, Enright H, Norton A, Aksu T, Özbek NY, Pontikos N, Cutillas P, Dokal I, Vulliamy T., Free PMC Article | 09/22/2018 |
| Hebo is ubiquitously expressed, localized in the nucleus, and rapidly recruited to DNAdsb's in an NBS1-dependent manner. | A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.
Zhang S, Pondarre C, Pennarun G, Labussiere-Wallet H, Vera G, France B, Chansel M, Rouvet I, Revy P, Lopez B, Soulier J, Bertrand P, Callebaut I, de Villartay JP., Free PMC Article | 07/22/2017 |
| These observations identify a distinct bone-marrow-failure syndrome due to mutations in ERCC6L2, a gene implicated in DNA repair and mitochondrial function. | ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.
Tummala H, Kirwan M, Walne AJ, Hossain U, Jackson N, Pondarre C, Plagnol V, Vulliamy T, Dokal I., Free PMC Article | 04/5/2014 |