Results 91 to 100 of about 8,343 (220)

Crystal structure of the DNA binding domain of the transcription factor T-bet suggests simultaneous recognition of distant genome sites [PDF]

open access: yes, 2014
The transcription factor T-bet (Tbox protein expressed in T cells) is one of the master regulators of both the innate and adaptive immune responses. It plays a central role in T-cell lineage commitment, where it controls the T[subscript H]1 response, and
Brandt, Gabriel S.   +9 more
core   +1 more source

How copy number variations shape brain developmental disorders: Unraveling the synaptic puzzle

open access: yesPsychiatry and Clinical Neurosciences, Volume 80, Issue 3, Page 166-179, March 2026.
Neurodevelopmental disorders (NDDs), such as schizophrenia (SCZ), Attention‐deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), learning disabilities, and intellectual disabilities (ID), are highly prevalent. One significant genetic factor associated with NDDs is copy number variations (CNVs), which are structural changes in the ...
Tianqi Wang   +3 more
wiley   +1 more source

DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond‐Blackfan Anemia Syndrome

open access: yesAmerican Journal of Hematology, Volume 101, Issue 2, Page 228-241, February 2026.
Diamond‐Blackfan Anemia Syndrome (DBAS) is a congenital bone marrow failure disorder characterized by defective erythropoiesis and a spectrum of congenital anomalies, including craniofacial malformations, limb abnormalities, and cardiac and renal defects.
Paola Quarello   +29 more
wiley   +1 more source

Single-cell transcriptomics uncovers a non-autonomous Tbx1-dependent genetic program controlling cardiac neural crest cell development

open access: yesNature Communications, 2023
Cardiac neural crest must differentiate and migrate correctly to achieve proper cardiovascular development. Here, the authors use single cell analyses to show how these cells are altered non-autonomously by loss of Tbx1, the major gene for 22q11.2 ...
Christopher De Bono   +5 more
doaj   +1 more source

Functional Conservation of the Glide/Gcm Regulatory Network Controlling Glia, Hemocyte, and Tendon Cell Differentiation in Drosophila. [PDF]

open access: yes, 2015
High-throughput screens allow us to understand how transcription factors trigger developmental processes, including cell specification. A major challenge is identification of their binding sites because feedback loops and homeostatic interactions may ...
Aiello, Giuseppe   +5 more
core   +4 more sources

Tunable Synthetic Hydrogel Modulates Hepatic Lineage Specification of Human Liver Organoid

open access: yesAdvanced Functional Materials, Volume 36, Issue 7, 22 January 2026.
In this study, a synthetic hydrogel is reported that supports the formation of hiPSC‐derived human liver organoids (HLOs). Hepatic lineage specification can be modulated via conjugation of RGD peptide to hydrogel: RGD‐conjugated hydrogels promote cholangiocyte differentiation, whereas RGD‐free hydrogels favor hepatocyte commitment of HLO cells.
Lei Wang   +16 more
wiley   +1 more source

Reduced EZH2 Expression in Circulating CD8‐Positive T Cells and Monocytes in Psoriasis

open access: yesExperimental Dermatology, Volume 35, Issue 1, January 2026.
ABSTRACT Enhancer of Zeste Homologue 2 (EZH2) is an epigenetic regulator involved in immune cell differentiation and function; however, its role in psoriasis remains unknown. This study aimed to evaluate EZH2 expression in peripheral blood mononuclear cells from patients with psoriasis and explore its potential functional relevance to disease ...
Toyoki Yamamoto   +5 more
wiley   +1 more source

"Mechanisms of transcriptional regulation by Tbx1" [PDF]

open access: yes, 2010
Deletion 22q11.2 syndrome (22q11DS) is the most common microdeletion syndrome in man, with an incidence of approximately 1:4000 live births (1); the major malformations include congenital heart defects such as truncus arteriosus (TA) and interrupted aortic arch type B (IAA-B), hypo/aplasia of the parathyroid and thymus glands, and craniofacial ...
openaire   +1 more source

Fgf8 expression in the Tbx1 domain causes skeletal abnormalities and modifies the aortic arch but not the outflow tract phenotype of Tbx1 mutants

open access: yesDevelopmental Biology, 2006
Fgf8 and Tbx1 have been shown to interact in patterning the aortic arch, and both genes are required in formation and growth of the outflow tract of the heart. However, the nature of the interaction of the two genes is unclear. We have utilized a novel Tbx1(Fgf8) allele which drives Fgf8 expression in Tbx1-positive cells and an inducible Cre-LoxP ...
VITELLI F   +5 more
openaire   +3 more sources

DiGeorge syndrome gene tbx1 functions through wnt11r to regulate heart morphology and function [PDF]

open access: yes, 2013
DiGeorge syndrome (DGS) is the most common microdeletion syndrome, and is characterized by congenital cardiac, craniofacial and immune system abnormalities. The cardiac defects in DGS patients include conotruncal and ventricular septal defects.
Choudhry, Priya, Trede, Nikolaus S.
core   +1 more source

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