[HTML][HTML] Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
Clinical genetic testing of protein-coding regions identifies a likely causative variant in only
around half of developmental disorder (DD) cases. The contribution of regulatory variation in …
around half of developmental disorder (DD) cases. The contribution of regulatory variation in …
Genome-wide DNA methylation analysis in pediatric acute myeloid leukemia
G Yamato, T Kawai, N Shiba, J Ikeda, Y Hara… - Blood …, 2022 - ashpublications.org
We investigated genome-wide DNA methylation patterns in 64 pediatric patients with acute
myeloid leukemia (AML). Based on unsupervised clustering with the 567 most variably …
myeloid leukemia (AML). Based on unsupervised clustering with the 567 most variably …
Differentiation block in acute myeloid leukemia regulated by intronic sequences of FTO
F Camera, I Romero-Camarero, BH Revell… - Iscience, 2023 - cell.com
Iroquois transcription factor gene IRX3 is highly expressed in 20–30% of acute myeloid
leukemia (AML) and contributes to the pathognomonic differentiation block. Intron 8 FTO …
leukemia (AML) and contributes to the pathognomonic differentiation block. Intron 8 FTO …
Pindel-TD: a tandem duplication detector based on a pattern growth approach
Tandem duplication (TD) is a major type of structural variations (SVs) that plays an important
role in novel gene formation and human diseases. However, TDs are often missed or …
role in novel gene formation and human diseases. However, TDs are often missed or …
The discovery of an evolutionarily conserved enhancer within the MYEOV locus suggests an unexpected role for this non-coding region in cancer
BSA Davidson, JE Arcila-Galvis, M Trevisan-Herraz… - bioRxiv, 2023 - biorxiv.org
The myeloma overexpressed gene (MYEOV) has been proposed to be a proto-oncogene
due to high RNA transcript levels found in multiple cancers, including myeloma, breast, lung …
due to high RNA transcript levels found in multiple cancers, including myeloma, breast, lung …
[PDF][PDF] This is an Open Access document downloaded from ORCA, Cardiff University's institutional repository: https://orca. cardiff. ac. uk/142799/This is the author's …
61 Clinical genetic testing of protein-coding regions identifies a likely causative variant in
only 62 around half of developmental disorder (DD) cases. The contribution of regulatory …
only 62 around half of developmental disorder (DD) cases. The contribution of regulatory …
[PDF][PDF] ORCA–Online Research@ Cardiff
61 Clinical genetic testing of protein-coding regions identifies a likely causative variant in
only 62 around half of developmental disorder (DD) cases. The contribution of regulatory …
only 62 around half of developmental disorder (DD) cases. The contribution of regulatory …