Publications:

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Endoglin Wild Type and Variants Associated With Hereditary Hemorrhagic Telangiectasia Type 1 Undergo Distinct Cellular Degradation Pathways.

Frontiers In Molecular Biosciences

Gariballa, Nesrin N; Kizhakkedath, Praseetha P; Akawi, Nadia N; John, Anne A; Ali, Bassam R BR

Publication Date: 2022

Variant appearance in text: ENG: C53R

PubMed Link: 35281255

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Autologous correction in patient induced pluripotent stem cell-endothelial cells to identify a novel pathogenic mutation of hereditary hemorrhagic telangiectasia.

Pulmonary Circulation

Zhou, Fang F; Zhao, Xiuli X; Liu, Xiu X; Liu, Yanyan Y; Ma, Feng F; Liu, Bao B; Yang, Jun J

Publication Date: 2020

Variant appearance in text: ENG: C53R

PubMed Link: 33282178

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• 10.1177_2045894019885357.pdf

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Structural Basis of the Human Endoglin-BMP9 Interaction: Insights into BMP Signaling and HHT1.

Cell Reports

Saito, Takako T; Bokhove, Marcel M; Croci, Romina R; Zamora-Caballero, Sara S; Han, Ling L; Letarte, Michelle M; de Sanctis, Daniele D; Jovine, Luca L

Publication Date: 2017-05-30

Variant appearance in text: ENG: C53R

PubMed Link: 28564608

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• mmc2.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HHT1: C53R

PubMed Link: 26659599

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• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ENG: C53R

PubMed Link: 26206375

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• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia.

Molecular Syndromology

Govani, F S FS; Giess, A A; Mollet, I G IG; Begbie, M E ME; Jones, M D MD; Game, L L; Shovlin, C L CL

Publication Date: 2013-04

Variant appearance in text: ENG: Cys53Arg

PubMed Link: 23801935

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Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.

Plos One

Ali, Bassam R BR; Ben-Rebeh, Imen I; John, Anne A; Akawi, Nadia A NA; Milhem, Reham M RM; Al-Shehhi, Nouf A NA; Al-Ameri, Mouza M MM; Al-Shamisi, Shamma A SA; Al-Gazali, Lihadh L

Publication Date: 2011

Variant appearance in text: ENG: C53R

PubMed Link: 22022569

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• pone.0026206.pdf

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Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

Journal Of Medical Genetics

Prigoda, N L NL; Savas, S S; Abdalla, S A SA; Piovesan, B B; Rushlow, D D; Vandezande, K K; Zhang, E E; Ozcelik, H H; Gallie, B L BL; Letarte, M M

Publication Date: 2006-09

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PubMed Link: 16690726

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Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics

Abdalla, S A SA; Letarte, M M

Publication Date: 2006-02

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PubMed Link: 15879500

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