Results 61 to 70 of about 3,740 (175)

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

open access: yesAnnals of Clinical and Translational Neurology, Volume 13, Issue 5, Page 1005-1019, May 2026.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron   +5 more
wiley   +1 more source

Fetal Fraction Signatures: A Quality Control Tool to Detect Potentially Confounding Situations in NonInvasive Prenatal Diagnosis of Monogenic Conditions

open access: yesClinical Genetics, Volume 109, Issue 5, Page 869-875, May 2026.
Noninvasive prenatal diagnosis for monogenic diseases (NIPD‐M) to detect inherited mutations is performed in parallel with fetal fraction signatures, to detect various anomalies that may compromise diagnosis. An extra regression analysis may be necessary to resolve mosaic situations. ABSTRACT Noninvasive prenatal diagnosis relies on the analysis of the
Jean‐Louis Blouin   +2 more
wiley   +1 more source

Exosomal Non‐Coding RNAs in Gastrointestinal Cancer Drug Resistance: A Systematic Review of Emerging Mechanisms and Clinical Implications

open access: yesJournal of Cellular and Molecular Medicine, Volume 30, Issue 9, May 2026.
ABSTRACT Gastrointestinal (GI) tumours are one of the most prevalent cancers globally. Even with normal GI function, individuals may develop neoplasms, highlighting the need to better understand the underlying causes of tumorigenesis. The emergence of tumour drug resistance represents the main reason for the failure of drug treatment; thus, it is ...
Mohsen Sharif‐zak   +6 more
wiley   +1 more source

Autonomous Function of the Amino-Terminal Inhibitory Domain of TAF1 in Transcriptional Regulation [PDF]

open access: yesMolecular and Cellular Biology, 2004
The general transcription factor TFIID is composed of TATA-binding protein (TBP) and 14 TBP-associated factors (TAFs). TFIID mediates the transcriptional activation of a subset of eukaryotic promoters. The N-terminal domain (TAND) of TAF1 protein (Taf1p) inhibits TBP by binding to its concave and convex surfaces.
Shinya, Takahata   +3 more
openaire   +2 more sources

X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B

open access: yesNeurobiology of Disease, 2017
X-linked Dystonia-Parkinsonism (XDP) is a progressive neurodegenerative disease involving the loss of medium spiny neurons within the striatum. An XDP-specific haplotype has been identified, consisting of seven sequence variants which cluster around the ...
Christine A. Vaine   +7 more
doaj   +1 more source

Strawberry Notch 1 Acts as a Transcriptional Regulator Driving Oncogenic Programs in Liver Carcinogenesis

open access: yesAdvanced Science, Volume 13, Issue 20, 9 April 2026.
This study reports that SBNO1 protein is upregulated in several cancer entities. SBNO1 protein interacts with the basal transcription factor TFIID via TAF4, enabling its recruitment to transcription start sites and the modulation of target gene expression.
Sarah Fritzsche   +21 more
wiley   +1 more source

Proteomic analysis of X-linked dystonia parkinsonism disease striatal neurons reveals altered RNA metabolism and splicing

open access: yesNeurobiology of Disease
Summary: X-linked dystonia-parkinsonism (XDP) is a rare neurodegenerative disease endemic to the Philippines. The genetic cause for XDP is an insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within intron 32 of TATA-binding protein associated ...
Kizito-Tshitoko Tshilenge   +11 more
doaj   +1 more source

Single‐Nucleus RNA Sequencing Reveals Muscle Fiber Cell Heterogeneity During Human Skeletal Muscle Aging

open access: yesAging Cell, Volume 25, Issue 4, April 2026.
Aging was characterized by a state transition, accompanied by denervation and fatty infiltration. The aged microenvironment was globally altered. BMP and Laminin signaling were involved in enhanced FAPs communicating to myofibers. ABSTRACT Aging impairs skeletal muscle mass and function, but the cell‐type–resolved transcriptional states and ...
Caixia Gong   +9 more
wiley   +1 more source

Transcriptional coactivator CIITA, a functional homolog of TAF1, has kinase activity [PDF]

open access: yesBiochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, 2013
The Major Histocompatibility Complex (MHC) class II transactivator (CIITA) mediates activated immune responses and its deficiency results in the Type II Bare Lymphocyte Syndrome. CIITA is a transcriptional co-activator that regulates γ-interferon-activated transcription of MHC class I and class II genes.
Katherine C, Soe   +2 more
openaire   +2 more sources

Molecular Characteristics, Potential Mechanisms, and Prognostic Gene Model of Younger Female Patients With Gastric Cancer

open access: yesCancer Reports, Volume 9, Issue 3, March 2026.
ABSTRACT Background Male patients were twice as likely to develop gastric cancer (GC) compared to females, partly due to the protective effect of estrogen. However, the proportion of females increased in the young GC patients. Aims The study was designed to explore comprehensive molecular profiles of younger female GC patients, as well as develop a ...
Xiaoyi Luan   +8 more
wiley   +1 more source

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