Cargando…
A novel variant in TAF1 affects gene expression and is associated with X-linked TAF1 intellectual disability syndrome
We investigated the genome of a 5-year-old male who presented with global developmental delay (motor, cognitive, and speech), hypotonia, possibly ataxia, and cerebellar hypoplasia of unknown origin. Whole genome sequencing (WGS) and mRNA sequencing (RNA-seq) were performed on a family having an affe...
Autores principales: | Hurst, Sarah E., Liktor-Busa, Erika, Moutal, Aubin, Parker, Sara, Rice, Sydney, Szelinger, Szabolcs, Senner, Grant, Hammer, Michael F., Johnstone, Laurel, Ramsey, Keri, Narayanan, Vinodh, Perez-Miller, Samantha, Khanna, May, Dahlin, Heather, Lewis, Karen, Craig, David, Wang, Edith H., Khanna, Rajesh, Nelson, Mark A. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Portland Press Ltd.
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7373232/ https://www.ncbi.nlm.nih.gov/pubmed/32714589 http://dx.doi.org/10.1042/NS20180141 |
Ejemplares similares
-
Evaluation of the effects of the T-type calcium channel enhancer SAK3 in a rat model of TAF1 deficiency
por: Dhanalakshmi, Chinnasamy, et al.
Publicado: (2020) -
Taf2 mediates DNA binding of Taf14
por: Klein, Brianna J., et al.
Publicado: (2022) -
Cytoplasmic TAF2–TAF8–TAF10 complex provides evidence for nuclear holo–TFIID assembly from preformed submodules
por: Trowitzsch, Simon, et al.
Publicado: (2015) -
Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription
por: El-Saafin, Farrah, et al.
Publicado: (2018) -
Identification of a Small TAF Complex and Its Role in the Assembly of TAF-Containing Complexes
por: Demény, Màté A., et al.
Publicado: (2007)