Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR1
Variant:p.A230T
Back to variants list

TGFBR1

NM_004612.4:p.A230T

Associated Papers

Harnessing iPSCs, 3D organoids, and multiomics to model rare vascular diseases: Emerging new approach methodologies.

Liu L et al.

Vascular Medicine (london, England), 2026

Engineered vascular grafts lend unique insight to pathophysiology of aortic aneurysms.

Naegeli KM et al.

Cell Stem Cell, 2024

Bioengineered vascular grafts with a pathogenic TGFBR1 variant model aneurysm formation in vivo and reveal underlying collagen defects.

Yang Y et al.

Science Translational Medicine, 2024

Understanding genomic medicine for thoracic aortic disease through the lens of induced pluripotent stem cells.

Singh AA et al.

Frontiers in Cardiovascular Medicine, 2024

The endometrial cancer A230V-ALK5 (TGFBR1) mutant attenuates TGF-β signaling and exhibits reduced in vitro sensitivity to ALK5 inhibitors.

Yu EJ et al.

Plos One, 2024

hiPSC Modeling of Lineage-Specific Smooth Muscle Cell Defects Caused by TGFBR1A230T Variant, and Its Therapeutic Implications for Loeys-Dietz Syndrome.

Zhou D et al.

Circulation, 2021

Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.

Mattassi R et al.

Journal of Vascular Surgery, 2018

Novel inactivating mutations of transforming growth factor-beta type I receptor gene in head-and-neck cancer metastases.

Chen T et al.

International Journal of Cancer, 2001

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."