Results 41 to 50 of about 4,594 (188)

Hierarchical TAF1-dependent co-translational assembly of the basal transcription factor TFIID

Nature Structural & Molecular Biology, 2023
Large heteromeric multiprotein complexes play pivotal roles at every step of gene expression in eukaryotic cells. Among them, the 20-subunit basal transcription factor TFIID nucleates the RNA polymerase II preinitiation complex at gene promoters.
A. Bernardini, Pooja Mukherjee, E. Scheer, Ivanka Kamenova, S. Antonova, P. K. Mendoza Sanchez, Gizem Yayli, Bastien Morlet, H. M. Marc Timmers, L. Tora   +9 more
semanticscholar   +2 more sources

P682: Development of TAF1 genotyping assay for X-linked dystonia-parkinsonism-associated haplotype detection

Genetics in Medicine Open
Eirini Christodoulou, Anna Nagy, Lisa Mahanta, Laura Sack, Heather Mason-Suares   +4 more
doaj   +2 more sources

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing? [PDF]

Prenat Diagn
ABSTRACT Objective Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this.
Gibbs A, Braham R, Ramachandran V, Roberts R, Willison C, Ashraf T, Cobben J, Gardham A, Holder-Espinasse M, Homfray T, Mehta SG, Tapon D, Vasudevan P, Chandler NJ.   +13 more
europepmc   +2 more sources

A novel variant in TAF1 affects gene expression and is associated with X-linked TAF1 intellectual disability syndrome [PDF]

Neuronal Signaling, 2018
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 affected proband, his unaffected parents, and maternal ...
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.   +18 more
openaire   +2 more sources

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity [PDF]

, 2019
peer reviewedWe recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pathogenic variants involving the X-linked gene TAF1, which participates in RNA polymerase II transcription.
Zhao, Mengge, Palmer, Elizabeth E., Alexander, Nora, Leon, Eyby, Lunke, Sebastian, Dreyer, Lauren, Baynam, Gareth, Li, Quan, Kline, Antonie D., de Munnik, Sonja A., Capponi, Simona, Piatek, Stefan G., Fassi, Emily, Ewans, Lisa, Buckley, Michael F., Lukusa, Prosper, Soares, Gabriela, Lupski, James R., Mallawaarachchi, Amali, Timmers, T. Marc, Devriendt, Koenraad, Guillen Sacoto, Maria J., Vermeesch, Joris, Posey, Jennifer E., Weng, Chunhua, Vogt, Julie, Agrawal, Pankaj B., Murray, Lucinda, Douglas, Ganka, Worgan, Lisa, Mohammed, Shehla, Rope, Alan, Wang, Kai, Stark, Zornitza, Moutton, Sebastien, Lyon, Gholson J., Riviere, Jean-Baptiste, Waugh, Jeff L., Sandaradura, Sarah A., Mark, Paul R., Ahlfors, Helena, Cheng, Hanyin, Begtrup, Amber, Wakeling, Emma, Marchi, Elaine, Diaz, Jullianne, Kleyner, Robert, Willing, Marcia, Faivre, Laurence, Payne, Katelyn, Oliveira, Jorge, Roscioli, Tony, Walsh, Laurence, Soares, G, Murray, L, Kline, AD, Adès, Lesley C., Devriendt, K, Moutton, S, Leon, E, Diaz, J, Weng, C, Posey, JE, Alexander, N, Douglas, G, Sandaradura, SA, Gonçalves, AR, Zhao, M, Riviere, JB, Begtrup, A, Willing, M, Capponi, S, Agrawal, PB, Worgan, L, Wang, K, Vermeesch, J, de Munnik, SA, Gonçalves, Ana R., Lumaka, Aimé, Dreyer, L, Baynam, G, Cheng, H, Stefan, PG, Rope, A, Ewans, L, Lumaka, A, Timmers, HTM, Palmer, EE, Adès, LC, Mark, PR, Lyon, GJ, Oliveira, J, Kleyner, R, Mohammed, S, Marchi, E, Guillen Sacoto, MJ, Vogt, J, Roscioli, T, Ahlfors, H, Faivre, L, Lukusa, P, Fassi, E, Lunke, S, Wakeling, E, Mallawaarachchi, A, Stark, Z, Buckley, MF, Payne, K, Lupski, JR, Walsh, L, Waugh, JL, Li, Q   +111 more
core   +5 more sources

Phosphorylation on Thr-55 by TAF1 mediates degradation of p53: a role for TAF1 in cell G1 progression. [PDF]

Molecular cell, 2004
The largest subunit of TFIID, TAF1, possesses an intrinsic protein kinase activity and is important for cell G1 progression and apoptosis. Since p53 functions by inducing cell G1 arrest and apoptosis, we investigated the link between TAF1 and p53. We found that TAF1 induces G1 progression in a p53-dependent manner.
Heng-Hong, Li, Andrew G, Li, Hilary M, Sheppard, Xuan, Liu   +3 more
openaire   +2 more sources

Identifying clinical features and molecular characteristics of the endometrial clear cell carcinoma

Frontiers in Oncology, 2023
ObjectiveThe aim of this study was to verify TCGA subtypes in endometrial clear cell carcinoma (ECCC) and determine their clinical and molecular characteristics.MethodsWe summarized and compared the clinical features of 28 clear cell carcinoma and 112 ...
Yuhan Cai, Qin Han, Hongyan Guo
doaj   +1 more source

TAF1-gene editing alters the morphology and function of the cerebellum and cerebral cortex

Neurobiology of Disease, 2019
TAF1/MRSX33 intellectual disability syndrome is an X-linked disorder caused by loss-of-function mutations in the TAF1 gene. How these mutations cause dysmorphology, hypotonia, intellectual and motor defects is unknown.
Udaiyappan Janakiraman, Jie Yu, Aubin Moutal, Dhanalakshmi Chinnasamy, Lisa Boinon, Shelby N. Batchelor, Annaduri Anandhan, Rajesh Khanna, Mark A. Nelson   +8 more
doaj   +1 more source

SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene.

PLoS ONE, 2020
X-linked Dystonia-Parkinsonism (XDP) is a neurodegenerative disease linked to an insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron of TAF1.
Tiziana Petrozziello, Amanda M Dios, Kaly A Mueller, Christine A Vaine, William T Hendriks, Kelly E Glajch, Alexandra N Mills, Kotchaphorn Mangkalaphiban, Ellen B Penney, Naoto Ito, Cara Fernandez-Cerado, Gierold Paul A Legarda, M Salvie Velasco-Andrada, Patrick J Acuña, Mark A Ang, Edwin L Muñoz, Cid Czarina E Diesta, Regina Macalintal-Canlas, Geraldine Acuña, Nutan Sharma, Laurie J Ozelius, D Cristopher Bragg, Ghazaleh Sadri-Vakili   +22 more
doaj   +1 more source

MIAT shuttled by tumor‐secreted exosomes promotes paclitaxel resistance in esophageal cancer cells by activating the TAF1/SREBF1 axis

Journal of biochemical and molecular toxicology, 2023
Chemoresistance remains a major obstacle to the treatment of esophageal cancer (EC). Exosome‐mediated transfer of long noncoding RNAs (lncRNAs) has recently been unveiled to correlate with the regulation of drug resistance in EC.
Shu-Yao Zhang, Jun-Yong Zhong, Dainian Guo, Sheng-Qi Zhang, Gui-Feng Huang, Yun Chen, Cheng-Cheng Xu, Wang Chen, Qiuzhen Zhang, Cheng-Kuan Zhao, Su-Lin Liu, Zebin Luo, Chao-Xian Lin   +12 more
semanticscholar   +1 more source