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: BMPR2: 354T>G; Cys118Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The Role of Bone Morphogenetic Protein Receptor Type 2 (BMPR2) and the Prospects of Utilizing Induced Pluripotent Stem Cells (iPSCs) in Pulmonary Arterial Hypertension Disease Modeling.

Cells

Devendran, Anichavezhi A; Kar, Sumanta S; Bailey, Rasheed R; Trivieri, Maria Giovanna MG

Publication Date: 2022-11-29

Variant appearance in text: BMPR2: C118W

PubMed Link: 36497082

Variant Present in the following documents:

• Main text
• cells-11-03823.pdf

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An organ-on-chip model of pulmonary arterial hypertension identifies a BMPR2-SOX17-prostacyclin signalling axis.

Communications Biology

Ainscough, Alexander J AJ; Smith, Timothy J TJ; Haensel, Maike M; Rhodes, Christopher J CJ; Fellows, Adam A; Whitwell, Harry J HJ; Vasilaki, Eleni E; Gray, Kelly K; Freeman, Adrian A; Howard, Luke S LS; Wharton, John J; Dunmore, Benjamin B; Upton, Paul D PD; Wilkins, Martin R MR; Edel, Joshua B JB; Wojciak-Stothard, Beata B

Publication Date: 2022-11-07

Variant appearance in text: BMPR2: C118W

PubMed Link: 36344664

Variant Present in the following documents:

• Main text
• 42003_2022_Article_4169.pdf

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Molecular and Genetic Profiling for Precision Medicines in Pulmonary Arterial Hypertension.

Cells

Fazal, Shahood S; Bisserier, Malik M; Hadri, Lahouaria L

Publication Date: 2021-03-13

Variant appearance in text: BMPR2: C118W

PubMed Link: 33805595

Variant Present in the following documents:

• Main text
• cells-10-00638.pdf

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Approaches to treat pulmonary arterial hypertension by targeting BMPR2: from cell membrane to nucleus.

Cardiovascular Research

Dunmore, Benjamin J BJ; Jones, Rowena J RJ; Toshner, Mark R MR; Upton, Paul D PD; Morrell, Nicholas W NW

Publication Date: 2021-09-28

Variant appearance in text: BMPR2: C118W

PubMed Link: 33399862

Variant Present in the following documents:

• Main text

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Novel Advances in Modifying BMPR2 Signaling in PAH.

Genes

Dannewitz Prosseda, Svenja S; Ali, Md Khadem MK; Spiekerkoetter, Edda E

Publication Date: 2020-12-23

Variant appearance in text: BMPR2: C118W

PubMed Link: 33374819

Variant Present in the following documents:

• Main text

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Repurposing of medications for pulmonary arterial hypertension.

Pulmonary Circulation

Toshner, Mark M; Spiekerkoetter, Edda E; Bogaard, Harm H; Hansmann, Georg G; Nikkho, Sylvia S; Prins, Kurt W KW

Publication Date: 2020

Variant appearance in text: BMPR2: C118W

PubMed Link: 33282182

Variant Present in the following documents:

• Main text
• 10.1177_2045894020941494.pdf

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Impulse Dispersion of Aerosols during Singing and Speaking: A Potential COVID-19 Transmission Pathway.

American Journal Of Respiratory And Critical Care Medicine

Echternach, Matthias M; Gantner, Sophia S; Peters, Gregor G; Westphalen, Caroline C; Benthaus, Tobias T; Jakubaß, Bernhard B; Kuranova, Liudmila L; Döllinger, Michael M; Kniesburges, Stefan S

Publication Date: 2020-12-01

Variant appearance in text: BMPR2: Cys118Trp

PubMed Link: 33064957

Variant Present in the following documents:

• rccm.202009-3438LE.pdf

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: BMPR2: C118W

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Targeting translational read-through of premature termination mutations in BMPR2 with PTC124 for pulmonary arterial hypertension.

Pulmonary Circulation

Long, Lu L; Yang, Xudong X; Southwood, Mark M; Moore, Stephen S; Crosby, Alexi A; Upton, Paul D PD; Dunmore, Benjamin J BJ; Morrell, Nicholas W NW

Publication Date: 2020

Variant appearance in text: BMPR2: C118W

PubMed Link: 32733669

Variant Present in the following documents:

• Main text
• 10.1177_2045894020935783.pdf

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Targeting BMPR2 Trafficking with Chaperones: An Important Step toward Precision Medicine in Pulmonary Arterial Hypertension.

American Journal Of Respiratory Cell And Molecular Biology

Andruska, Adam A; Ali, Mohammed Khadem MK; Spiekerkoetter, Edda E

Publication Date: 2020-08

Variant appearance in text: BMPR2: C118W

PubMed Link: 32339467

Variant Present in the following documents:

• Main text
• rcmb.2020-0130ED.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: BMPR2: C118W

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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The Application of Induced Pluripotent Stem Cells in Pathogenesis Study and Gene Therapy for Vascular Disorders: Current Progress and Future Challenges.

Stem Cells International

Peng, Guang-Yin GY; Lin, Yang Y; Li, Jing-Jing JJ; Wang, Ying Y; Huang, Hao-Yue HY; Shen, Zhen-Ya ZY

Publication Date: 2019

Variant appearance in text: BMPR2: C118W

PubMed Link: 31281393

Variant Present in the following documents:

• Main text
• SCI2019-9613258.pdf

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Pharmacoperones as Novel Therapeutics for Diverse Protein Conformational Diseases.

Physiological Reviews

Tao, Ya-Xiong YX; Conn, P Michael PM

Publication Date: 2018-04-01

Variant appearance in text: BMPR-II: C118W

PubMed Link: 29442594

Variant Present in the following documents:

• Main text

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Shared gene expression patterns in mesenchymal progenitors derived from lung and epidermis in pulmonary arterial hypertension: identifying key pathways in pulmonary vascular disease.

Pulmonary Circulation

Gaskill, Christa C; Marriott, Shennea S; Pratap, Sidd S; Menon, Swapna S; Hedges, Lora K LK; Fessel, Joshua P JP; Kropski, Jonathan A JA; Ames, DeWayne D; Wheeler, Lisa L; Loyd, James E JE; Hemnes, Anna R AR; Roop, Dennis R DR; Klemm, Dwight J DJ; Austin, Eric D ED; Majka, Susan M SM

Publication Date: 2016-12

Variant appearance in text: BMPR2: 354T>G; C118W

PubMed Link: 28090290

Variant Present in the following documents:

• Main text

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MxA Is a Novel Regulator of Endosome-Associated Transcriptional Signaling by Bone Morphogenetic Proteins 4 and 9 (BMP4 and BMP9).

Plos One

Yuan, Huijuan H; Sehgal, Pravin B PB

Publication Date: 2016

Variant appearance in text: BMPR2: Cys118Trp

PubMed Link: 27875556

Variant Present in the following documents:

• Main text
• pone.0166382.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: PPH1: C118W

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: BMPR2: 354T>G

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: BMPR2: C118W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Identification of a common Wnt-associated genetic signature across multiple cell types in pulmonary arterial hypertension.

American Journal Of Physiology. Cell Physiology

West, James D JD; Austin, Eric D ED; Gaskill, Christa C; Marriott, Shennea S; Baskir, Rubin R; Bilousova, Ganna G; Jean, Jyh-Chang JC; Hemnes, Anna R AR; Menon, Swapna S; Bloodworth, Nathaniel C NC; Fessel, Joshua P JP; Kropski, Johnathan A JA; Irwin, David D; Ware, Lorraine B LB; Wheeler, Lisa L; Hong, Charles C CC; Meyrick, Barbara B; Loyd, James E JE; Bowman, Aaron B AB; Ess, Kevin C KC; Klemm, Dwight J DJ; Young, Pampee P PP; Merryman, W David WD; Kotton, Darrell D; Majka, Susan M SM

Publication Date: 2014-09-01

Variant appearance in text: BMPR2: 354T>G

PubMed Link: 24871858

Variant Present in the following documents:

• Main text

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Subcellular mechanisms in pulmonary arterial hypertension: combinatorial modalities that inhibit anterograde trafficking and cause bone morphogenetic protein receptor type 2 mislocalization.

Pulmonary Circulation

Yang, Yang-Ming YM; Lane, Kirk B KB; Sehgal, Pravin B PB

Publication Date: 2013-09

Variant appearance in text: BMPR2: Cys118Trp

PubMed Link: 24618539

Variant Present in the following documents:

• Main text

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Constitutively active ALK2 receptor mutants require type II receptor cooperation.

Molecular And Cellular Biology

Bagarova, Jana J; Vonner, Ashley J AJ; Armstrong, Kelli A KA; Börgermann, Jan J; Lai, Carol S C CS; Deng, Donna Y DY; Beppu, Hideyuki H; Alfano, Ivan I; Filippakopoulos, Panagis P; Morrell, Nicholas W NW; Bullock, Alex N AN; Knaus, Petra P; Mishina, Yuji Y; Yu, Paul B PB

Publication Date: 2013-06

Variant appearance in text: BMPR2: C118W

PubMed Link: 23572558

Variant Present in the following documents:

• Main text

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BMPR1A mutations in juvenile polyposis affect cellular localization.

The Journal Of Surgical Research

Howe, James R JR; Dahdaleh, Fadi S FS; Carr, Jennifer C JC; Wang, Donghong D; Sherman, Scott K SK; Howe, James R JR

Publication Date: 2013-10

Variant appearance in text: BMPR2: C118W

PubMed Link: 23433720

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• Main text

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A potential role for insulin resistance in experimental pulmonary hypertension.

The European Respiratory Journal

West, James J; Niswender, Kevin D KD; Johnson, Jennifer A JA; Pugh, Meredith E ME; Gleaves, Linda L; Fessel, Joshua P JP; Hemnes, Anna R AR

Publication Date: 2013-04

Variant appearance in text: BMPR2: C118W

PubMed Link: 22936709

Variant Present in the following documents:

• Main text

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Cytoskeletal defects in Bmpr2-associated pulmonary arterial hypertension.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Johnson, Jennifer A JA; Hemnes, Anna R AR; Perrien, Daniel S DS; Schuster, Manfred M; Robinson, Linda J LJ; Gladson, Santhi S; Loibner, Hans H; Bai, Susan S; Blackwell, Tom R TR; Tada, Yuji Y; Harral, Julie W JW; Talati, Megha M; Lane, Kirk B KB; Fagan, Karen A KA; West, James J

Publication Date: 2012-03-01

Variant appearance in text: BMPR2: C118W

PubMed Link: 22180660

Variant Present in the following documents:

• Main text

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Oxidative injury is a common consequence of BMPR2 mutations.

Pulmonary Circulation

Lane, Kirk L KL; Talati, Megha M; Austin, Eric E; Hemnes, Anna R AR; Johnson, Jennifer A JA; Fessel, Joshua P JP; Blackwell, Tom T; Mernaugh, Ray L RL; Robinson, Linda L; Fike, Candice C; Roberts, L Jackson LJ; West, James J

Publication Date: 2011

Variant appearance in text: BMPR2: C118W

PubMed Link: 21904662

Variant Present in the following documents:

• Main text
• PC-1-72.pdf

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Proteomics of transformed lymphocytes from a family with familial pulmonary arterial hypertension.

American Journal Of Respiratory And Critical Care Medicine

Meyrick, Barbara O BO; Friedman, David B DB; Billheimer, D Dean DD; Cogan, Joy D JD; Prince, Melissa A MA; Phillips, John A JA; Loyd, James E JE

Publication Date: 2008-01-01

Variant appearance in text: BMPR2: C118W

PubMed Link: 17932379

Variant Present in the following documents:

• Main text

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