[HTML][HTML] Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

AM Bertoli-Avella, KK Kandaswamy, S Khan… - Genetics in …, 2021 - Elsevier
Purpose Within this study, we aimed to discover novel gene–disease associations in
patients with no genetic diagnosis after exome/genome sequencing (ES/GS). Methods We …

Alternative pre-mRNA splicing in stem cell function and therapeutic potential: A critical review of current evidence

L Cui, Y Zheng, R Xu, Y Lin, J Zheng, P Lin… - International Journal of …, 2024 - Elsevier
Alternative splicing is a crucial regulator in stem cell biology, intricately influencing the
functions of various biological macromolecules, particularly pre-mRNAs and the resultant …

[HTML][HTML] Diversity in TAF proteomics: consequences for cellular differentiation and migration

J Kazantseva, K Palm - International Journal of Molecular Sciences, 2014 - mdpi.com
Development is a highly controlled process of cell proliferation and differentiation driven by
mechanisms of dynamic gene regulation. Specific DNA binding factors for establishing cell …

De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder

BDE Janssen, MJH van den Boogaard… - Human …, 2022 - Wiley Online Library
TATA‐binding protein associated factor 4 (TAF4) is a subunit of the Transcription Factor IID
(TFIID) complex, a central player in transcription initiation. Other members of this multimeric …

Targeted alternative splicing of TAF4: a new strategy for cell reprogramming

J Kazantseva, H Sadam, T Neuman, K Palm - Scientific Reports, 2016 - nature.com
Reprogramming of somatic cells has become a versatile tool for biomedical research and for
regenerative medicine. In the current study, we show that manipulating alternative splicing …

In silico analysis of transcriptomic profiling and affected biological pathways in multiple sclerosis

R Vaja, H Kaur, M Mazumder, E Brodsky - bioRxiv, 2021 - biorxiv.org
Multiple sclerosis (MS) is a chronic autoimmune, inflammatory neurological disease that is
widely associated with Grey and white matter degradation due to the demyelination of …

The basic transcriptional machinery in intestinal homeostasis

SS Borreill - 2021 - theses.hal.science
Regulatory transcription factors interact with the basic transcriptional machinery to initiate
genetranscription. In contrast to regulatory factors, the basic transcriptional machinery has …