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The Molecular Genetics and Cellular Mechanisms Underlying Pulmonary Arterial Hypertension.
Published in:
Scientifica, 2012, p. 1, doi. 10.6064/2012/106576
By:
- Machado, Rajiv D.
Publication type:
Article
Selective enhancement of endothelial BMPR-II with BMP9 reverses pulmonary arterial hypertension.
Published in:
Nature Medicine, 2015, v. 21, n. 7, p. 777, doi. 10.1038/nm.3877
By:
- Long, Lu;
- Ormiston, Mark L;
- Yang, Xudong;
- Southwood, Mark;
- Gräf, Stefan;
- Machado, Rajiv D;
- Mueller, Matthias;
- Kinzel, Bernd;
- Yung, Lai Ming;
- Wilkinson, Janine M;
- Moore, Stephen D;
- Drake, Kylie M;
- Aldred, Micheala A;
- Yu, Paul B;
- Upton, Paul D;
- Morrell, Nicholas W
Publication type:
Article
Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension.
Published in:
Nature Genetics, 2000, v. 26, n. 1, p. 81, doi. 10.1038/79226
By:
- Lane, Kirk B.;
- Machado, Rajiv D.;
- Pauciulo, Michael W.;
- Thomson, Jennifer R.;
- Phillips III, John A.;
- Loyd, James E.;
- Nichols, William C.;
- Trembath, Richard C.
Publication type:
Article
Characterization of Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.
Published in:
2020
By:
- Hodgson, Joshua;
- Swietlik, Emilia M.;
- Salmon, Richard M.;
- Hadinnapola, Charaka;
- Nikolic, Ivana;
- Wharton, John;
- Jingxu Guo;
- Liley, James;
- Haimel, Matthias;
- Bleda, Marta;
- Southgate, Laura;
- Machado, Rajiv D.;
- Martin, Jennifer M.;
- Treacy, Carmen M.;
- Yates, Katherine;
- Daugherty, Louise C.;
- Shamardina, Olga;
- Whitehorn, Deborah;
- Holden, Simon;
- Bogaard, Harm J.
Publication type:
journal article
Assessment of a pulmonary origin for blood outgrowth endothelial cells by examination of identical twins harboring a BMPR2 mutation.
Published in:
2013
By:
- Ormiston, Mark L;
- Southgate, Laura;
- Treacy, Carmen;
- Pepke-Zaba, Joanna;
- Trembath, Richard C;
- Machado, Rajiv D;
- Morrell, Nicholas W
Publication type:
Letter
Assessment of a Pulmonary Origin for Blood Outgrowth Endothelial Cells by Examination of Identical Twins Harboring a BMPR2 Mutation.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2013, v. 188, n. 2, p. 258, doi. 10.1164/rccm.201301-0078le
By:
- ORMISTON, MARK L.;
- SOUTHGATE, LAURA;
- TREACY, CARMEN;
- PEPKE-ZABA, JOANNA;
- TREMBATH, RICHARD C.;
- MACHADO, RAJIV D.;
- MORRELL, NICHOLAS W.
Publication type:
Article
Genetic Association of the Serotonin Transporter in Pulmonary Arterial Hypertension.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2006, v. 173, n. 7, p. 793, doi. 10.1164/rccm.200509-1365OC
By:
- Machado, Rajiv D.;
- Koehler, Rolf;
- Glissmeyer, Eric;
- Veal, Colin;
- Suntharalingam, Jay;
- Miryoung Kim;
- Carlquist, John;
- Town, Margaret;
- Elliott, C. Gregory;
- Hoeper, Marius;
- Fijalkowska, Anna;
- Kurzyna, Marcin;
- Thomson, Jennifer R.;
- Gibbs, Simon R.;
- Wilkins, Martin R.;
- Seeger, Werner;
- Morrell, Nicholas W.;
- Gruenig, Ekkehard;
- Trembath, Richard C.;
- Janssen, Bart
Publication type:
Article
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Published in:
Human Mutation, 2015, v. 36, n. 12, p. 1113, doi. 10.1002/humu.22904
By:
- Machado, Rajiv D.;
- Southgate, Laura;
- Eichstaedt, Christina A.;
- Aldred, Micheala A.;
- Austin, Eric D.;
- Best, D. Hunter;
- Chung, Wendy K.;
- Benjamin, Nicola;
- Elliott, C. Gregory;
- Eyries, Mélanie;
- Fischer, Christine;
- Gräf, Stefan;
- Hinderhofer, Katrin;
- Humbert, Marc;
- Keiles, Steven B.;
- Loyd, James E.;
- Morrell, Nicholas W.;
- Newman, John H.;
- Soubrier, Florent;
- Trembath, Richard C.
Publication type:
Article
Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development.
Published in:
Human Mutation, 2011, v. 32, n. 2, p. 231, doi. 10.1002/humu.21413
By:
- Denais, Celine;
- Dent, Carolyn L.;
- Southgate, Laura;
- Hoyle, Jacqueline;
- Dafou, Dimitra;
- Trembath, Richard C.;
- Machado, Rajiv D.
Publication type:
Article
Mutations of the TGF-β type II receptor BMPR2 in pulmonary arterial hypertension.
Published in:
2006
By:
- Machado, Rajiv D.;
- Aldred, Micheala A.;
- James, Victoria;
- Harrison, Rachel E.;
- Patel, Bhakti;
- Schwalbe, Edward C.;
- Gruenig, Ekkehard;
- Janssen, Bart;
- Koehler, Rolf;
- Seeger, Werner;
- Eickelberg, Oliver;
- Olschewski, Horst;
- Gregory Elliott, C.;
- Glissmeyer, Eric;
- Carlquist, John;
- Kim, Miryoung;
- Torbicki, Adam;
- Fijalkowska, Anna;
- Szewczyk, Grzegorz;
- Parma, Jasmine
Publication type:
Other
Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension.
Published in:
Human Molecular Genetics, 2003, v. 12, n. 24, p. 3277, doi. 10.1093/hmg/ddg365
By:
- Machado, Rajiv D.;
- Rudarakanchana, Nung;
- Atkinson, Carl;
- Flanagan, Julia A.;
- Harrison, Rachel;
- Morrell, Nicholas W.;
- Trembath, Richard C.
Publication type:
Article
Pulmonary Arterial Hypertension: A Deeper Evaluation of Genetic Risk in the -Omics Era.
Published in:
Genes, 2021, v. 12, n. 11, p. 1798, doi. 10.3390/genes12111798
By:
- Machado, Rajiv D.;
- Southgate, Laura
Publication type:
Article
Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension.
Published in:
Genes, 2020, v. 11, n. 11, p. 1328, doi. 10.3390/genes11111328
By:
- Gelinas, Simone M.;
- Benson, Clare E.;
- Khan, Mohammed A.;
- Berger, Rolf M. F.;
- Trembath, Richard C.;
- Machado, Rajiv D.;
- Southgate, Laura
Publication type:
Article

Found: 13