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L3mbtl1 loss-of-function was associated with significant decreases in depression and and anxiety in some of the behavioral paradigms.
generation and analysis of mice after disruption of L3MBTL1
Loss of the paternally derived allele of the imprinted L3MBTL1 gene is associated with Shwachman-Diamond syndrome.
The polycomb group protein L3MBTL1 represses a SMAD5 (显示 SMAD5 蛋白)-mediated hematopoietic transcriptional program in human pluripotent stem cells.
High expression of L3MBTL1 was associated with low grade and hormone receptor (显示 NR4A1 蛋白)-positive tumors, as well as low risk of disease recurrence and breast cancer death.
depletion of L3MBTL1 does not affect hESC self-renewal, rather it enhances differentiation toward extra-embryonic trophoblast tissues
Data suggest that the loss of L3MBTL1 contributes to the development of 20q(-) hematopoietic malignancies by inducing replicative stress, DNA damage, and genomic instability.
SET8 (显示 SETD8 蛋白)-mediated methylation of p53 (显示 TP53 蛋白) at Lys (显示 LYZ 蛋白)-382 promotes the interaction between L3MBTL1 and p53 (显示 TP53 蛋白) in cells.
haploinsufficiency of L3MBTL1 contributes to some (20q-) myeloproliferative neoplasms, especially polycythemia vera (显示 IGF2BP3 蛋白), by promoting erythroid differentiation
The ability of TEL (显示 ETV6 蛋白) to repress TEL (显示 ETV6 蛋白)-responsive promoters is enhanced by the presence of H-L(3)MBT, an effect dependent on the H-L(3)MBT and the TEL (显示 ETV6 蛋白) interacting domains, which are mapped to their respective SPM (显示 NPC1 蛋白)/SAM (显示 TTN 蛋白) domains.
represents a previously undescribed imprinted locus, a vertebrate Polycomb (显示 CBX2 蛋白) group gene shown to be regulated by this mechanism, and has implications for the pathogenesis of myeloid malignancies associated with 20q deletions
L3MBTL may have a role in myeloid leukemia (显示 BCL11A 蛋白)
This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.
, L(3)mbt protein homolog
, lethal(3)malignant brain tumor-like protein 1
, l(3)mbt protein homolog
, lethal (3) malignant brain tumor l(3)
, L(3)malignant brain tumor-like protein