Results 51 to 60 of about 3,740 (175)

The expression of the transcription factor TAF1 is modified by the HPV16 E2 protein

Acta virologica, 2020
High-risk human papillomaviruses (e.g., HPV16 and 18) are associated with cervical cancer occurrence and development. The early viral gene E2 encodes a protein involved in several key processes in HPV biology, such as replication, genome segregation, and viral gene transcription.
J, Sánchez-Ramos, G, Pozo-Molina, E, Garrido   +2 more
openaire   +3 more sources

CIITA and its dual roles in MHC gene transcription

Frontiers in Immunology, 2013
CIITA is a transcriptional co-activator that regulates γ-interferon-activated transcription of Major Histocompatibility Complex (MHC) class I and class II genes.
Dinah S. Singer, Ballachanda Nanjappa Devaiah   +1 more
doaj   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source

Role of the pre-initiation complex in Mediator recruitment and dynamics

eLife, 2018
The Mediator complex stimulates the cooperative assembly of a pre-initiation complex (PIC) and recruitment of RNA Polymerase II (Pol II) for gene activation. The core Mediator complex is organized into head, middle, and tail modules, and in budding yeast
Elisabeth R Knoll, Z Iris Zhu, Debasish Sarkar, David Landsman, Randall H Morse   +4 more
doaj   +1 more source

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer, Oswaldo Lorenzo‐Betancor, Dong‐Hui Chen, Kimmy Su, Marika Bogdani, Anna J. Park, Minsuh Kim, Joshua Weiss, Malia Callier, Ella H. Chiu, Sarah Fish, Jennifer L. Witt, Wendy H. Raskind, Marie Y. Davis, C. Dirk Keene, Cyrus P. Zabetian   +15 more
wiley   +1 more source

The Effect of Glucocorticoids on TAF1 Gene Transcription in X-linked Dystonia Parkinsonism

Journal of the ASEAN Federation of Endocrine Societies, 2023
X-linked Dystonia Parkinsonism (XDP) is associated with a SINE-VNTR- Alu (SVA) retrotransposon insertion in an intron of the TAF1 gene that alters gene transcription and splicing. In this study, we determined if the SVA insertion introduces glucocorticoid (GC)-responsive cis-regulatory elements that may contribute to dysregulated TAF1 transcription and
Sam Ezrael Dela Cruz, Pia Bagamasbad
openaire   +2 more sources

Gastric cancer biomarkers; A systems biology approach

Biochemistry and Biophysics Reports, 2018
Gastric cancer is one of the most fatal cancers in the world. Many efforts in recent years have attempted to find effective proteins in gastric cancer. By using a comprehensive list of proteins involved in gastric cancer, scientists were able to retrieve
Mohammad Saberi Anvar, Zarrin Minuchehr, Mohsen Shahlaei, Samira Kheitan   +3 more
doaj   +1 more source

Voice and Speech in Deep Brain Stimulation in Dystonia: A Retrospective Study, Systematic Review, and Meta‐Analysis

Movement Disorders, EarlyView.
Abstract Background Relatively little is known about voice and speech abnormalities and their changes after deep brain stimulation (DBS) in patients with dystonia. Objective The aim was to determine the incidence of speech abnormalities, including laryngeal dystonia, among patients with dystonia receiving DBS and to characterize their response to this ...
Ian O. Bledsoe, Nutan Sharma, Marta San Luciano, Jill L. Ostrem, Nicole E. Buie, Gaia Arno, Mikayla Day, Kristina Simonyan   +7 more
wiley   +1 more source

Simultaneous functional loss of Spt3 and Taf1 during the strain construction process conferred Taf1/TFIID dependence to the PGK1 promoter.

, 2023
(A) Schematic outline of the three strain construction protocols (#1, #2, and #3) used to generate the SPT3/TAF1 or SPT3/ taf1-N568Δ strains. These three protocols are all comprised of three common steps: (i) chromosomal integration of SPT3 into the AUR1
Koji Kasahara (16607), Tetsuro Kokubo (16614), Minenosuke Matsutani (456193), Naoki Takai (14593072), Haruki Kokubo (14593075), Yuh Shiwa (512008), Ryo Iwami (14593069)   +6 more
core   +1 more source