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1. Variants in the NOTCH1 gene in patients with aortic
Description: 4851 - Gene ResultNOTCH1 notch receptor 1 [ (human)]
2. NOTCH1 gene: MedlinePlus Genetics
Description: NOTCH1 gene mutations associated with this condition are acquired during a person's lifetime and are found only in tumor cells; these changes are known as somatic mutations. Mutations in the NOTCH1 gene may reduce or eliminate production of functional Notch1 protein or lead to production of a protein that is unable to participate in cell signaling. Without the tumor suppressor function of the Notch1 …
3. Variants in the NOTCH1 gene in patients with aortic
Description: Variants in the NOTCH1 gene in patients with aortic coarctation. In more than half of the cases, coarctation was combined with bicuspid aortic valve, and in approximately half of the cases, it was combined with hypoplasia of the aortic arch or descending aorta. Familial history of congenital heart disease was observed in 34.3% of the cases.
4. List of variants in gene NOTCH1 - ClinVar Miner
Description: 1656 rows · List of variants in gene NOTCH1. List of variants in gene. NOTCH1. NM_017617. 5 …
5. 4851 - Gene ResultNOTCH1 notch receptor 1 [ (human)]
Description: Oct 09, 2021 · two novel de novo mutations in NOTCH1, 23 rare patients inherited gene variants in NOTCH1; Higher levels of Notch1 protein, intracellular domain and mRNA implicate pathway involvement in thoracic aortic aneurysm and dissection. Notch1 modulates oxidative stress induced cell death through suppression of apoptosis signal-regulating kinase 1.
6. NOTCH1 Gene - GeneCards | NOTC1 Protein | NOTC1 Antibody
Description: CIViC Summary for NOTCH1 Gene. NOTCH1 is one of four known genes encoding the NOTCH family of proteins, a group of receptors involved in the Notch signaling pathway. NOTCH proteins are characterized by N-terminal EGF-like repeats followed by LNR domains which form a complex with ligands to prevent signaling.
7. NOTCH1 Protein Variant (Concept Id: C5238232)
Description: NOTCH1 Protein Variant (Concept Id: C5238232) A variation in the amino acid sequence for the neurogenic locus notch homolog protein 1 protein. NOTCH1 Protein Variant. MedGen UID:
8. List of variants in gene NOTCH1 reported as pathogenic
Description: 47 rows · List of variants in gene. NOTCH1. reported as pathogenic. Show significances as they were …
9. Are there mutations in the Notch1 Notch receptor 1 gene?
Description: Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] NOTCH1 notch receptor 1  Gene ID: 4851 Summary This gene encodes a member of the NOTCH family of proteins.
10. How to test for NOTCH1 mutations in plasma?
Description: NOTCH1 Mutation Analysis. Bi-directional sequencing of exons 26, 27, and 34 is performed for detection of sequence variant mutations. Testing can be performed on plasma when adequate leukemic cells are not available. NOTCH1 mutations are common in T-ALL, CLL, and mantle cell lymphoma.