Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: ACVRL1: 1460A>C; Lys487Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: K487T

PubMed Link: 34400635

Variant Present in the following documents:

• Main text
• 41467_2021_Article_25248.pdf
• 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: K487T

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Human Mutation

Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E

Publication Date: 2015-12

Variant appearance in text: ACVRL1: K487T

PubMed Link: 26387786

Variant Present in the following documents:

• Main text

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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: K487T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Chaperones as thermodynamic sensors of drug-target interactions reveal kinase inhibitor specificities in living cells.

Nature Biotechnology

Taipale, Mikko M; Krykbaeva, Irina I; Whitesell, Luke L; Santagata, Sandro S; Zhang, Jianming J; Liu, Qingsong Q; Gray, Nathanael S NS; Lindquist, Susan S

Publication Date: 2013-07

Variant appearance in text: ACVRL1: K487T

PubMed Link: 23811600

Variant Present in the following documents:

• NIHMS484224-supplement-2.xlsx, sheet 2

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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: K487T

PubMed Link: 16690726

Variant Present in the following documents:

• Main text

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Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway.

Clinical Medicine & Research

Fernández-L, Africa A; Sanz-Rodriguez, Francisco F; Blanco, Francisco J FJ; Bernabéu, Carmelo C; Botella, Luisa M LM

Publication Date: 2006-03

Variant appearance in text: HHT: K487T

PubMed Link: 16595794

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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