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1. Sequencing of NOTCH1 gene in an Italian population with ...
Description: NOTCH1 is a proven candidate gene and its mutations have been found in familial and sporadic cases of BAV. Methods: 66 BAV patients from the GISSI VAR study were genotyped for the NOTCH1 gene.
2. Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 ...
Description: In a recent report, mutations in NOTCH1 a signaling and transcriptional regulator have been shown to cause BAV in two families. This study provides data on systematic sequencing i … The bicuspid aortic valve (BAV) …
3. Notch Signaling in Aortic Valve Development and Disease
Description: BAV results in significant morbidity usually during adulthood due to its association with aortic valve calcification and ascending aortic aneurysms. Mutations in the signaling and transcriptional regulator, NOTCH1, are a cause of bicuspid aortic valve in non-syndromic autosomal dominant human pedigrees. The Notch …
4. Novel NOTCH1 mutations in patients with bicuspid aortic ...
Description: Aug 01, 2007 · NOTCH1 is a plausible candidate gene for BAV and TAA. Located at 9q34.3, NOTCH1 encodes for a transmembrane protein that functions as a transcriptional cofactor to activate the Notch signaling pathway, a signaling pathway found in developmental pathways of many organ systems including the human cardiovascular system.21, 22 Specifically, NOTCH1 …
5. What are the effects of mutations in the NOTCH1 gene?
Description: Mutations in the NOTCH1 gene can impair normal heart development before birth, causing abnormalities of the heart and related structures. One such abnormality occurs in the valve that connects the aorta to the heart (the aortic valve).
6. What is the role of Notch1 in cell division?
Description: Notch1 signaling helps determine the specialization of cells into certain cell types that perform particular functions in the body (cell fate determination). It also plays a role in cell growth and division (proliferation), maturation (differentiation), and self-destruction (apoptosis).
7. Is the NOTCH1 gene an oncogene or a tumor suppressor?
Description: The protein produced from the NOTCH1 gene has such diverse functions that the gene is considered both an oncogene and a tumor suppressor. Oncogenes typically promote cell proliferation or survival, and when mutated, they have the potential to cause normal cells to become cancerous.
8. How are ligands attached to the Notch1 receptor?
Description: Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Attachment of a ligand to the Notch1 receptor sends signals that are important for normal development of many tissues throughout the body, both before birth and after.