[HTML][HTML] Genetics and pathogenesis of dystonia
Dystonia is a clinically and genetically highly heterogeneous neurological disorder
characterized by abnormal movements and postures caused by involuntary sustained or …
characterized by abnormal movements and postures caused by involuntary sustained or …
Epigenotype–genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders
Germline pathogenic variants in two genes encoding the lysine-specific histone
methyltransferase genes SETD1A and SETD2 are associated with neurodevelopmental …
methyltransferase genes SETD1A and SETD2 are associated with neurodevelopmental …
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
An expanding range of genetic syndromes are characterized by genome‐wide disruptions in
DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly …
DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly …
[HTML][HTML] Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome
HNRNPU encodes a multifunctional RNA-binding protein that plays critical roles in
regulating pre-mRNA splicing, mRNA stability, and translation. Aberrant expression and …
regulating pre-mRNA splicing, mRNA stability, and translation. Aberrant expression and …
Identification of a robust DNA methylation signature for Fanconi anemia
D Pagliara, A Ciolfi, L Pedace, S Haghshenas… - The American Journal of …, 2023 - cell.com
Fanconi anemia (FA) is a clinically variable and genetically heterogeneous cancer-
predisposing disorder representing the most common bone marrow failure syndrome. It is …
predisposing disorder representing the most common bone marrow failure syndrome. It is …
[HTML][HTML] Histone–lysine N-methyltransferase 2 (KMT2) complexes–a new perspective
E Poreba, K Lesniewicz, J Durzynska - Mutation Research/Reviews in …, 2022 - Elsevier
Abstract Histone H3 Lys4 (H3K4) methylation is catalyzed by the Histone–Lysine N-
Methyltransferase 2 (KMT2) protein family, and its members are required for gene …
Methyltransferase 2 (KMT2) protein family, and its members are required for gene …
[HTML][HTML] Episignature analysis of moderate effects and mosaics
K Oexle, M Zech, LG Stühn, S Siegert… - European Journal of …, 2023 - nature.com
Abstract DNA methylation classifiers (“episignatures”) help to determine the pathogenicity of
variants of uncertain significance (VUS). However, their sensitivity is limited due to their …
variants of uncertain significance (VUS). However, their sensitivity is limited due to their …
Comparison of Methylation Episignatures in KMT2B- and KMT2D-Related Human Disorders
Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related
dystonia (DYT-KMT2B), the authors undertook genome-wide methylation profiling of∼ 2 M …
dystonia (DYT-KMT2B), the authors undertook genome-wide methylation profiling of∼ 2 M …
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
Purpose Genome sequencing (GS)–specific diagnostic rates in prospective tightly
ascertained exome sequencing (ES)–negative intellectual disability (ID) cohorts have not …
ascertained exome sequencing (ES)–negative intellectual disability (ID) cohorts have not …
The apparent paradox of phenotypic diversity and shared mechanisms across dystonia syndromes
The discovery of biological pathways shared between different monogenic dystonias is an
important conceptual advance in the understanding of the underlying mechanisms, with a …
important conceptual advance in the understanding of the underlying mechanisms, with a …