Imperial College London

Professor Martin Wilkins

Faculty of MedicineDepartment of Medicine

Head of the Department of Medicine
 
 
 
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Contact

 

+44 (0)20 3313 2049m.wilkins

 
 
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Location

 

NIHR / Wellcome Trust Clinical Research FacilityICTEM buildingHammersmith Campus

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Summary

 

Publications

Publication Type
Year
to

179 results found

Dawes TJW, de Marvao A, Shi W, Fletcher T, Watson GMJ, Wharton J, Rhodes CJ, Howard LSGE, Gibbs JSR, Rueckert D, Cook SA, Wilkins MR, O'Regan DPet al., 2017, Machine Learning of Three-dimensional Right Ventricular Motion Enables Outcome Prediction in Pulmonary Hypertension: A Cardiac MR Imaging Study, RADIOLOGY, Vol: 283, Pages: 381-390, ISSN: 0033-8419

JOURNAL ARTICLE

Duluc L, Ahmetaj-Shala B, Mitchell J, Abdul-Salam VB, Mahomed AS, Aldabbous L, Oliver E, Iannone L, Dubois OD, Storck EM, Tate EW, Zhao L, Wilkins MR, Wojciak-Stothard Bet al., 2017, Tipifarnib prevents development of hypoxia-induced pulmonary hypertension, CARDIOVASCULAR RESEARCH, Vol: 113, Pages: 276-287, ISSN: 0008-6363

JOURNAL ARTICLE

Ghataorhe P, Rhodes CJ, Harbaum L, Attard M, Wharton J, Wilkins MRet al., 2017, Pulmonary arterial hypertension - progress in understanding the disease and prioritizing strategies for drug development, JOURNAL OF INTERNAL MEDICINE, Vol: 282, Pages: 129-141, ISSN: 0954-6820

JOURNAL ARTICLE

Ghofrani H-A, Humbert M, Langleben D, Schermuly R, Stasch J-P, Wilkins MR, Klinger JRet al., 2017, Riociguat: Mode of Action and Clinical Development in Pulmonary Hypertension, CHEST, Vol: 151, Pages: 468-480, ISSN: 0012-3692

JOURNAL ARTICLE

Hadinnapola C, Bleda M, Haimel M, Screaton N, Swift AJ, Dorfmüller P, Preston SD, Southwood M, Hernandez-Sanchez J, Martin J, Treacy C, Yates K, Bogaard H, Church C, Coghlan G, Condliffe R, Corris PA, Gibbs SR, Girerd B, Holden S, Humbert M, Kiely DG, Lawrie A, Machado RD, MacKenzie Ross R, Moledina S, Montani D, Newnham M, Peacock AJ, Pepke-Zaba J, Rayner-Matthews PJ, Shamardina O, Soubrier F, Southgate L, Suntharalingam J, Toshner MR, Trembath RC, Vonk Noordegraaf A, Wilkins MR, Wort SJ, Wharton J, Gräf S, Morrell NW, NIHR BioResource - Rare Diseases Consortium & UK National Cohort Study of Idiopathic and Heritable PAHet al., 2017, Phenotypic Characterisation of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically with Pulmonary Arterial Hypertension., Circulation

Background -Pulmonary arterial hypertension (PAH) is a rare disease with an emerging genetic basis. Heterozygous mutations in the gene encoding the bone morphogenetic protein receptor type 2 (BMPR2) are the commonest genetic cause of PAH, whereas biallelic mutations in the eukaryotic translation initiation factor 2 alpha kinase 4 gene (EIF2AK4) are described in pulmonary veno-occlusive disease and pulmonary capillary haemangiomatosis (PVOD/PCH). Here, we determined the frequency of these mutations and define the genotype-phenotype characteristics in a large cohort of patients diagnosed clinically with PAH. Methods -Whole genome sequencing was performed on DNA from patients with idiopathic and heritable PAH, as well as PVOD/PCH recruited to the NIHR BioResource - Rare Diseases Study. Heterozygous variants in BMPR2 and biallelic EIF2AK4 variants with a minor allele frequency of < 1:10,000 in control data sets and predicted to be deleterious (by CADD, PolyPhen-2 and SIFT predictions) were identified as potentially causal. Phenotype data from the time of diagnosis were also captured. Results -Eight hundred and sixty-four patients with idiopathic or heritable PAH and 16 with PVOD/PCH were recruited. Mutations in BMPR2 were identified in 130 patients (14.8%). Biallelic mutations in EIF2AK4 were identified in 5 patients with a clinical diagnosis of PVOD/PCH. Furthermore, 9 patients with a clinical diagnosis of PAH carried biallelic EIF2AK4 mutations. These patients had a reduced transfer coefficient for carbon monoxide (KCO: 33 [IQR: 30 - 35] % predicted) and younger age at diagnosis (29 [23 - 38] years) as well as more interlobular septal thickening and mediastinal lymphadenopathy on computed tomography of the chest, compared to PAH patients without EIF2AK4 mutations. However, radiological assessment alone could not accurately identify biallelic EIF2AK4 mutation carriers. PAH patients with biallelic EIF2AK4 mutations had a shorter survival. Conclusions -Biallelic EIF2A

JOURNAL ARTICLE

Rhodes CJ, Ghataorhe P, Wharton J, Rue-Albrecht KC, Hadinnapola C, Watson G, Bleda M, Haimel M, Coghlan G, Corris PA, Howard LS, Kiely DG, Peacock AJ, Pepke-Zaba J, Toshner MR, Wort SJ, Gibbs JSR, Lawrie A, Graf S, Morrell NW, Wilkins MRet al., 2017, Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension, CIRCULATION, Vol: 135, Pages: 460-+, ISSN: 0009-7322

JOURNAL ARTICLE

Rhodes CJ, Wharton J, Ghataorhe P, Watson G, Girerd B, Howard LS, Gibbs JSR, Condliffe R, Elliot CA, Kiely DG, Simonneau G, Montani D, Sitbon O, Gall H, Schermuly RT, Ghofrani HA, Lawrie A, Humbert M, Wilkins MRet al., 2017, Plasma proteome analysis in patients with pulmonary arterial hypertension: an observational cohort study, LANCET RESPIRATORY MEDICINE, Vol: 5, Pages: 717-726, ISSN: 2213-2600

JOURNAL ARTICLE

Aldabbous L, Abdul-Salam V, McKinnon T, Duluc L, Pepke-Zaba J, Southwood M, Ainscough AJ, Hadinnapola C, Wilkins MR, Toshner M, Wojciak-Stothard Bet al., 2016, Neutrophil Extracellular Traps Promote Angiogenesis: Evidence From Vascular Pathology in Pulmonary Hypertension, ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, Vol: 36, Pages: 2078-2087, ISSN: 1079-5642

JOURNAL ARTICLE

Ashek A, Dubois O, Wilkins M, Zhao Let al., 2016, Kinetic Analysis Of 3 '-Deoxy-3 '-[18f]-Fluorothymidine (flt) Positron Emission Tomography (pet) In Monocrotaline-Induced Pulmonary Hypertension Rat, International Conference of the American-Thoracic-Society (ATS), Publisher: AMER THORACIC SOC, ISSN: 1073-449X

CONFERENCE PAPER

Dawes T, de Marvao A, Shi W, Fletcher T, Watson G, Wharton J, Rhodes C, Howard L, Gibbs S, Rueckert D, Cook S, Wilkins M, O'Regan Det al., 2016, Use of artificial intelligence to predict survival in pulmonary hypertension, Spring Meeting on Clinician Scientists in Training, Publisher: ELSEVIER SCIENCE INC, Pages: 35-35, ISSN: 0140-6736

CONFERENCE PAPER

Ghataorhe P, Rhodes C, Wharton J, Horneffer-van der Sluis V, Jimenez B, Lewis M, Pearce J, Kyriakides M, Watson G, Howard LS, Gibbs S, Gall H, Ghofrani H, Schermuly RT, Takats Z, Wilson I, Nicholson J, Wilkins Met al., 2016, Metabonomic Phenotype Analysis In Patients With Pulmonary Hypertension, International Conference of the American-Thoracic-Society (ATS), Publisher: AMER THORACIC SOC, ISSN: 1073-449X

CONFERENCE PAPER

Hadinnapola C, Haimel M, Bleda M, Bogaard H, Coghlan G, Corris P, Gibbs S, Kiely D, Lawrie A, Peacock A, Pepke-Zaba J, Southgate L, Toshner M, Trembath R, Noordegraaf AV, Wharton J, Wilkins M, Wort SJ, Graf S, Morrell NMet al., 2016, GENOTYPE-PHENOTYPE ASSOCIATIONS IN PULMONARY ARTERIAL HYPERTENSION CAUSED BY BMPR2 AND EIF2AK4 VARIANTS, Publisher: BMJ PUBLISHING GROUP, Pages: A63-A64, ISSN: 0040-6376

CONFERENCE PAPER

Lythgoe MP, Rhodes CJ, Ghataorhe P, Attard M, Wharton J, Wilkins MRet al., 2016, Why drugs fail in clinical trials in pulmonary arterial hypertension, and strategies to succeed in the future, PHARMACOLOGY & THERAPEUTICS, Vol: 164, Pages: 195-203, ISSN: 0163-7258

JOURNAL ARTICLE

Rhodes C, Wharton J, Ghataorhe P, Watson G, Girerd B, Howard LS, Gibbs S, Condliffe R, Elliot CA, Kiely D, Simonneau G, Montani D, Sitbon O, Gall H, Schermuly RT, Ghofrani H, Lawrie A, Humbert M, Wilkins Met al., 2016, Plasma Proteome Analysis In Idiopathic Pulmonary Arterial Hypertension Identifies A Panel Of Prognostic Proteins, International Conference of the American-Thoracic-Society (ATS), Publisher: AMER THORACIC SOC, ISSN: 1073-449X

CONFERENCE PAPER

Wilkins MR, Morrell NW, 2016, Prof. Almaz A. Aldashev (1953-2016) IN MEMORIAM, EUROPEAN RESPIRATORY JOURNAL, Vol: 48, Pages: 990-991, ISSN: 0903-1936

JOURNAL ARTICLE

Cotroneo E, Ashek A, Wang L, Wharton J, Dubois O, Bozorgi S, Busbridge M, Alavian KN, Wilkins MR, Zhao Let al., 2015, Iron Homeostasis and Pulmonary Hypertension Iron Deficiency Leads to Pulmonary Vascular Remodeling in the Rat, CIRCULATION RESEARCH, Vol: 116, Pages: 1680-1690, ISSN: 0009-7330

JOURNAL ARTICLE

D'Armini AM, Ghofrani H-A, Kim NH, Mayer E, Morsolini M, Pulido-Zamudio T, Simonneau G, Wilkins MR, Curram J, Davie N, Hoeper MMet al., 2015, Use of responder threshold criteria to evaluate the response to treatment in the phase III CHEST-1 study, JOURNAL OF HEART AND LUNG TRANSPLANTATION, Vol: 34, Pages: 348-355, ISSN: 1053-2498

JOURNAL ARTICLE

Dawes T, De Marvao A, Shi W, Rueckert D, Watson G, Howard L, Gibbs S, Cook S, Wilkins M, O'Regan Det al., 2015, Prognostic value of right heart adaptation to pulmonary arterial hypertension: a prospective cohort study, Congress of the European-Society-of-Cardiology (ESC), Publisher: OXFORD UNIV PRESS, Pages: 708-709, ISSN: 0195-668X

CONFERENCE PAPER

Ruiter G, Manders E, Happe CM, Schalij I, Groepenhoff H, Howard LS, Wilkins MR, Bogaard HJ, Westerhof N, van der Laarse WJ, de Man FS, Vonk-Noordegraaf Aet al., 2015, Intravenous iron therapy in patients with idiopathic pulmonary arterial hypertension and iron deficiency, PULMONARY CIRCULATION, Vol: 5, Pages: 466-472, ISSN: 2045-8932

JOURNAL ARTICLE

Simonneau G, D'Armini AM, Ghofrani H-A, Grimminger F, Hoeper MM, Jansa P, Kim NH, Wang C, Wilkins MR, Fritsch A, Davie N, Colorado P, Mayer Eet al., 2015, Riociguat for the treatment of chronic thromboembolic pulmonary hypertension: a long-term extension study (CHEST-2), EUROPEAN RESPIRATORY JOURNAL, Vol: 45, Pages: 1293-1302, ISSN: 0903-1936

JOURNAL ARTICLE

Wilkins MR, Ghofrani H-A, Weissmann N, Aldashev A, Zhao Let al., 2015, Pathophysiology and Treatment of High-Altitude Pulmonary Vascular Disease, CIRCULATION, Vol: 131, Pages: 582-590, ISSN: 0009-7322

JOURNAL ARTICLE

Zhao L, Oliver E, Maratou K, Atanur SS, Dubois OD, Cotroneo E, Chen C-N, Wang L, Arce C, Chabosseau PL, Ponsa-Cobas J, Frid MG, Moyon B, Webster Z, Aldashev A, Ferrer J, Rutter GA, Stenmark KR, Aitman TJ, Wilkins MRet al., 2015, The zinc transporter ZIP12 regulates the pulmonary vascular response to chronic hypoxia, NATURE, Vol: 524, Pages: 356-U229, ISSN: 0028-0836

JOURNAL ARTICLE

Cotroneo E, Ashek A, Wharton J, Dubois O, Bozorgi S, Busbridge M, Wilkins M, Zhao Let al., 2014, Pulmonary Vascular Remodelling In The Chronic Iron-Deficient Rat, AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, Vol: 189, ISSN: 1073-449X

JOURNAL ARTICLE

Hoeper M, Kim NH, Mayer E, Pulido T, Wilkins MR, Simonneau G, Torbicki A, Wang C, Davie N, Fritsch A, Ghofrani H-Aet al., 2014, Effects Of Riociguat In Patients With Inoperable Chronic Thromboembolic Pulmonary Hypertension (cteph) Vs Persistent/recurrent Pulmonary Hypertension (ph) After Pulmonary Endarterectomy (pea): 1-Year Results From The Chest-2 Study, AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, Vol: 189, ISSN: 1073-449X

JOURNAL ARTICLE

Wilkins MR, 2014, Pulmonary hypertension: the value of experimental medicine in new drug development, PULMONARY CIRCULATION, Vol: 4, Pages: 149-150, ISSN: 2045-8932

JOURNAL ARTICLE

Wilkins MR, Aldashev AA, Wharton J, Rhodes CJ, Vandrovcova J, Kasperaviciute D, Bhosle SG, Mueller M, Geschka S, Rison S, Kojonazarov B, Morrell NW, Neidhardt I, Surmeli NB, Aitman TJ, Stasch J-P, Behrends S, Marletta MAet al., 2014, alpha 1-A680T Variant in GUCY1A3 as a Candidate Conferring Protection From Pulmonary Hypertension Among Kyrgyz Highlanders, CIRCULATION-CARDIOVASCULAR GENETICS, Vol: 7, Pages: 920-U505, ISSN: 1942-325X

JOURNAL ARTICLE

Wojciak-Stothard B, Abdul-Salam VB, Lao KH, Tsang H, Irwin DC, Lisk C, Loomis Z, Stenmark KR, Edwards JC, Yuspa SH, Howard LS, Edwards RJ, Rhodes CJ, Gibbs JSR, Wharton J, Zhao L, Wilkins MRet al., 2014, Aberrant Chloride Intracellular Channel 4 Expression Contributes to Endothelial Dysfunction in Pulmonary Arterial Hypertension, CIRCULATION, Vol: 129, Pages: 1770-1780, ISSN: 0009-7322

JOURNAL ARTICLE

Ghofrani H-A, D'Armini AM, Grimminger F, Hoeper MM, Jansa P, Kim NH, Mayer E, Simonneau G, Wilkins MR, Fritsch A, Neuser D, Weimann G, Wang Cet al., 2013, Riociguat for the Treatment of Chronic Thromboembolic Pulmonary Hypertension, NEW ENGLAND JOURNAL OF MEDICINE, Vol: 369, Pages: 319-329, ISSN: 0028-4793

JOURNAL ARTICLE

Grieve AP, Chow S-C, Curram J, Dawe S, Harnisch LO, Henig NR, Hung HMJ, Ivy DD, Kawut SM, Rahbar MH, Xiao S, Wilkins MRet al., 2013, Advancing clinical trial design in pulmonary hypertension, PULMONARY CIRCULATION, Vol: 3, Pages: 217-225, ISSN: 2045-8932

JOURNAL ARTICLE

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