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ProteomicsTLK2-associated intellectual disability: report of six novel cases and molecular characterization of p.(Asp551Gly) and p.(Ser617Leu) variants
Introduction The Tousled-Like Kinases 1 and 2 (TLK1 and TLK2) are involved in many fun-damental processes, including DNA replication, cell cycle checkpoint recovery and chromatin remodelling. Mutations in TLK2 were recently associated with “Mental Retardation Autoso-mal Dominant 57” (MRD57), a neuro...
ORGANISM(S): Homo sapiens (Human) 
2021-05-13 | PXD019450 | Pride
Tousled like kinases Tlk2 Autism spectrum disorder Proximal interac-tome Comet assay Bioid Intellectual disability Chromatin condensation Mrd57 
UnknownFunctional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
Not available
S-EPMC10631451 | biostudies-literature
TranscriptomicsDe novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
The Tousled-like kinases 1 and 2 (TLK1/TLK2) regulate DNA replication, repair and chromatin maintenance. TLK2 variants are associated with ‘Intellectual Disability, Autosomal Dominant 57’ (MRD57), a neurodevelopmental disorder (NDD) characterized by intellectual disability (ID), autism spectrum diso...
ORGANISM(S): Homo sapiens 
2023-08-18 | GSE241032 | GEO
OtherMutational analysis of TLK1 and MDM1
The Tousled-like kinases 1 and 2 (TLK1/TLK2) regulate DNA replication, repair and chromatin maintenance. TLK2 variants are associated with ‘Intellectual Disability, Autosomal Dominant 57’ (MRD57), a neurodevelopmental disorder (NDD) characterized by intellectual disability (ID), autism spectrum diso...
ORGANISM(S): Homo sapiens 
2024-04-30 | GSE266289 | GEO
UnknownDe novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency.
Not available
S-EPMC11166698 | biostudies-literature
UnknownIdentification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency.
Not available
S-EPMC10473813 | biostudies-literature
GenomicsDe novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
PRJNA1006072 | ENA
GenomicsMutational analysis of TLK1 and MDM1
Mutational analysis of TLK1 and MDM1
PRJNA1106510 | ENA
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