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: HHT1: V125D

PubMed Link: 35281255

Variant Present in the following documents:

• Main text
• fmolb-09-828199.pdf

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Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.

Bmc Medical Genomics

Kitayama, Kana K; Ishiguro, Tomoya T; Komiyama, Masaki M; Morisaki, Takayuki T; Morisaki, Hiroko H; Minase, Gaku G; Hamanaka, Kohei K; Miyatake, Satoko S; Matsumoto, Naomichi N; Kato, Masaru M; Takahashi, Toru T; Yorifuji, Tohru T

Publication Date: 2021-12-06

Variant appearance in text: ENG: V125D

PubMed Link: 34872578

Variant Present in the following documents:

• 12920_2021_1139_MOESM1_ESM.xlsx, sheet 1

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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: V125D

PubMed Link: 28564608

Variant Present in the following documents:

• Main text
• mmc2.pdf

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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: V125D

PubMed Link: 22022569

Variant Present in the following documents:

• Main text
• 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

Variant appearance in text: ENG: V125D

PubMed Link: 16690726

Variant Present in the following documents:

• Main text

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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

Variant appearance in text:

PubMed Link: 15879500

Variant Present in the following documents:

• Main text

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