Publications:

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Structural basis for ALK2/BMPR2 receptor complex signaling through kinase domain oligomerization.

Nature Communications

Agnew, Christopher C; Ayaz, Pelin P; Kashima, Risa R; Loving, Hanna S HS; Ghatpande, Prajakta P; Kung, Jennifer E JE; Underbakke, Eric S ES; Shan, Yibing Y; Shaw, David E DE; Hata, Akiko A; Jura, Natalia N

Publication Date: 2021-08-16

Variant appearance in text: HHT: R479L

PubMed Link: 34400635

Variant Present in the following documents:

• 41467_2021_25248_MOESM1_ESM.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: HHT2: R479L

PubMed Link: 26659599

Variant Present in the following documents:

• 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: ACVRL1: R479L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: ACVRL1: R479L

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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Functional analysis of saxophone, the Drosophila gene encoding the BMP type I receptor ortholog of human ALK1/ACVRL1 and ACVR1/ALK2.

Genetics

Twombly, Vern V; Bangi, Erdem E; Le, Viet V; Malnic, Bettina B; Singer, Matthew A MA; Wharton, Kristi A KA

Publication Date: 2009-10

Variant appearance in text: HHT2: R479L

PubMed Link: 19620392

Variant Present in the following documents:

• Main text

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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: ACVRL1: R479L

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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