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Research
  1. Queen Mary University of London
  2. Research
  3. Publications

Publications: DR Jose Aragon-Martin

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Chipeta C, Aragon-Martin J, Chandra A ( 2024 ) . Zonulopathies as Genetic Disorders of the Extracellular Matrix . Genes vol. 15 , ( 12 )
Iskandar Z, Dodd M, Huang J, Chin CWL, Stuart G, Caputo M, Clayton T, Child A et al. ( 2023 ) . Exaggerated elastin turnover in young individuals with Marfan syndrome: new insights from the AIMS trial . European Heart Journal Open vol. 3 , ( 5 )
Davaapil H, McNamara M, Granata A, Macrae RGC, Hirano M, Fitzek M, Aragon-Martin JA, Child A et al. ( 2023 ) . A phenotypic screen of Marfan syndrome iPSC-derived vascular smooth muscle cells uncovers GSK3β as a new target . Stem Cell Reports vol. 18 , ( 2 ) 555 - 569 .
Wan YBA, Simpson M, Dulfer E, Osborn DPS, Kerstjens-Frederikse WS, Vos YJ, Pinard A, Regalado E et al. ( 2022 ) . Variants in LMOD1 predispose to inherited Familial Thoracic Aortic Aneurysm and Dissection (FTAAD) . Genomic and Molecular Cardiology vol. 2 , ( 1 )
Salmasi MY, Morris-Rosendahl D, Jarral OA, Rosendahl U, Asimakopoulos G, Raja S, Aragon-Martin JA, Child A et al. ( 2022 ) . Determining the genetic contribution in patients with non-syndromic ascending thoracic aortic aneurysms: Correlation with findings from computational pathology . International Journal of Cardiology vol. 366 , 1 - 9 .
Akram H, Aragon-Martin JA, Chandra A ( 2021 ) . Marfan syndrome and the eye clinic: from diagnosis to management . Therapeutic Advances in Rare Disease vol. 2 ,
Mathieu H, Spataru A, Aragon-Martin JA, Child A, Barchi S, Fortin C, Parent S, Moldovan F ( 2021 ) . Prevalence of POC5 Coding Variants in French-Canadian and British AIS Cohort . Genes vol. 12 , ( 7 )
Mathieu H, Patten SA, Aragon-Martin JA, Ocaka L, Simpson M, Child A, Moldovan F ( 2021 ) . Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family . Scientific Reports vol. 11 , ( 1 )
Mullen M, Jin XY, Child A, Stuart AG, Dodd M, Aragon-Martin JA, Gaze D, Kiotsekoglou A et al. ( 2019 ) . Irbesartan in Marfan syndrome (AIMS): a double-blind, placebo-controlled randomised trial . The Lancet vol. 394 , ( 10216 ) 2263 - 2270 .
Aragon-Martin JA, Child AH ( 2016 ) . Marfan Syndrome (MFS): Inherited Microfibrillar Disorder Caused by Mutations in the Fibrillin-1 Gene . Diagnosis and Management of Marfan Syndrome , Springer Nature
Isekame Y, Gati S, Aragon-Martin JA, Bastiaenen R, Kondapally Seshasai SR, Child A ( 2016 ) . Cardiovascular Management of Adults with Marfan Syndrome . European Cardiology Review vol. 11 , ( 2 ) 102 - 110 .
Child AH, Aragon-Martin JA, Sage K ( 2016 ) . Genetic testing in Marfan syndrome . British Journal of Hospital Medicine vol. 77 , ( 1 ) 38 - 41 .
Chandra A, Patel D, Aragon‐Martin JA, Pinard A, Collod‐Béroud G, Comeglio P, Boileau C, Faivre L et al. ( 2014 ) . The revised ghent nosology; reclassifying isolated ectopia lentis . Clinical Genetics vol. 87 , ( 3 ) 284 - 287 .
Chandra A, D'Cruz L, Aragon-Martin JA, Charteris DG, Limb GA, Child AH, Arno G ( 2012 ) . Focus on Molecules: ADAMTSL4 . vol. 104 , pp. 95 - 96 . Elsevier
Chandra A, Aragon-Martin JA, Sharif S, Parulekar M, Child A, Arno G ( 2012 ) . Craniosynostosis with Ectopia Lentis and a Homozygous 20-base Deletion in ADAMTSL4 . Ophthalmic Genetics vol. 34 , ( 1-2 ) 78 - 82 .
Chandra A, Aragon-Martin JA, Hughes K, Gati S, Reddy MA, Deshpande C, Cormack G, Child AH et al. ( 2012 ) . A Genotype-Phenotype Comparison of ADAMTSL4 and FBN1 in Isolated Ectopia LentisADAMTSL4 and FBN1 in Isolated Ectopia Lentis . Investigative Ophthalmology & Visual Science vol. 53 , ( 8 ) 4889 - 4896 .
Chandra A, Aragon Martin JA, Child AH, Arno G, Charteris DG ( 2011 ) . Alternative diagnoses with ectopia lentis . Eye vol. 26 , ( 3 ) 481 - 481 .
Aragon‐Martin JA, Ahnood D, Charteris DG, Saggar A, Nischal KK, Comeglio P, Chandra A, Child AH et al. ( 2010 ) . Role of ADAMTSL4 mutations in FBN1 mutation‐negative ectopia lentis patients . Human Mutation vol. 31 , ( 8 ) e1622 - e1631 .
Aragon-Martin JA, Ritch R, Liebmann J, O’Brien C, Blaaow K, Mercieca F, Spiteri A, Cobb CJ et al. ( 2008 ) . Evaluation of LOXL1 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma . Molecular Vision vol. 14 , 533 - 541 .
Comeglio P, Johnson P, Arno G, Brice G, Evans A, Aragon‐Martin J, da Silva FP, Kiotsekoglou A et al. ( 2007 ) . The importance of mutation detection in Marfan syndrome and Marfan‐related disorders: report of 193 FBN1 mutations . Human Mutation vol. 28 , ( 9 ) 928 - 928 .
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