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A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.
Am J Med Genet A. 2017 May;173(5):1257-1263. doi: 10.1002/ajmg.a.38153. Epub 2017 Mar 21.
Am J Med Genet A. 2017.
PMID: 28322503
Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.
Gariballa N, Ali BR.
Gariballa N, et al.
Front Mol Biosci. 2020 Oct 29;7:575608. doi: 10.3389/fmolb.2020.575608. eCollection 2020.
Front Mol Biosci. 2020.
PMID: 33195419
Free PMC article.
Review.
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Endoglin Wild Type and Variants Associated With Hereditary Hemorrhagic Telangiectasia Type 1 Undergo Distinct Cellular Degradation Pathways.
Gariballa N, Kizhakkedath P, Akawi N, John A, Ali BR.
Gariballa N, et al.
Front Mol Biosci. 2022 Feb 25;9:828199. doi: 10.3389/fmolb.2022.828199. eCollection 2022.
Front Mol Biosci. 2022.
PMID: 35281255
Free PMC article.
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Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele.
Gariballa N, Badawi S, Ali BR.
Gariballa N, et al.
Traffic. 2024 Jan;25(1):e12928. doi: 10.1111/tra.12928.
Traffic. 2024.
PMID: 38272447
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