Harry C. Dietz - Publications

Johns Hopkins University, Baltimore, MD 
Molecular Biology, Genetics, Cell Biology

126 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2016 Guerrerio AL, Frischmeyer-Guerrerio PA, Huang C, Wu Y, Haritunians T, McGovern DP, MacCarrick GL, Brant SR, Dietz HC. Increased Prevalence of Inflammatory Bowel Disease in Patients with Mutations in Genes Encoding the Receptor Subunits for TGFβ. Inflammatory Bowel Diseases. PMID 27508510 DOI: 10.1097/MIB.0000000000000872  0.36
2016 Weinsaft JW, Devereux RB, Preiss LR, Feher A, Roman MJ, Basson CT, Geevarghese A, Ravekes W, Dietz HC, Holmes K, Habashi J, Pyeritz RE, Bavaria J, Milewski K, LeMaire SA, et al. Aortic Dissection in Patients With Genetically Mediated Aneurysms: Incidence and Predictors in the GenTAC Registry. Journal of the American College of Cardiology. 67: 2744-54. PMID 27282895 DOI: 10.1016/j.jacc.2016.03.570  0.36
2015 Bennett CL, Aziz H, Sparks E, Shah T, Yoder M, MacCarrick G, Dietz HC. Massive hemoptysis in Loeys-Dietz syndrome. American Journal of Medical Genetics. Part A. PMID 26614122 DOI: 10.1002/ajmg.a.37487  0.36
2015 Levine RA, Hagége AA, Judge DP, Padala M, Dal-Bianco JP, Aikawa E, Beaudoin J, Bischoff J, Bouatia-Naji N, Bruneval P, Butcher JT, Carpentier A, Chaput M, Chester AH, Clusel C, ... ... Dietz HC, et al. Mitral valve disease-morphology and mechanisms. Nature Reviews. Cardiology. PMID 26483167 DOI: 10.1038/nrcardio.2015.161  0.36
2015 Dewan AK, Tomlinson RE, Mitchell S, Goh BC, Yung RM, Kumar S, Tan EW, Faugere MC, Dietz HC, Clemens TL, Sponseller PD. Dysregulated TGF-β signaling alters bone microstructure in a mouse model of Loeys-Dietz syndrome. Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society. 33: 1447-54. PMID 26173585 DOI: 10.1002/jor.22920  0.36
2015 Pitcher A, Emberson J, Lacro RV, Sleeper LA, Stylianou M, Mahony L, Pearson GD, Groenink M, Mulder BJ, Zwinderman AH, De Backer J, De Paepe AM, Arbustini E, Erdem G, Jin XY, ... ... Dietz HC, et al. Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialists' Collaboration. American Heart Journal. 169: 605-12. PMID 25965707 DOI: 10.1016/j.ahj.2015.01.011  0.36
2015 Teixido-Tura G, Almeida AL, Choi EY, Gjesdal O, Jacobs DR, Dietz HC, Liu K, Sidney S, Lewis CE, Garcia-Dorado D, Evangelista A, Gidding S, Lima JA. Determinants of Aortic Root Dilatation and Reference Values Among Young Adults Over a 20-Year Period: Coronary Artery Risk Development in Young Adults Study. Hypertension. 66: 23-9. PMID 25941347 DOI: 10.1161/HYPERTENSIONAHA.115.05156  0.36
2015 Fuhrhop SK, McElroy MJ, Dietz HC, MacCarrick GL, Sponseller PD. High prevalence of cervical deformity and instability requires surveillance in Loeys-Dietz syndrome. The Journal of Bone and Joint Surgery. American Volume. 97: 411-9. PMID 25740032 DOI: 10.2106/JBJS.N.00680  0.36
2015 Goldstein SA, Evangelista A, Abbara S, Arai A, Asch FM, Badano LP, Bolen MA, Connolly HM, Cuéllar-Calàbria H, Czerny M, Devereux RB, Erbel RA, Fattori R, Isselbacher EM, Lindsay JM, ... ... Dietz H, et al. Multimodality imaging of diseases of the thoracic aorta in adults: from the American Society of Echocardiography and the European Association of Cardiovascular Imaging: endorsed by the Society of Cardiovascular Computed Tomography and Society for Cardiovascular Magnetic Resonance. Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography. 28: 119-82. PMID 25623219 DOI: 10.1016/j.echo.2014.11.015  0.36
2015 Schepers D, Doyle AJ, Oswald G, Sparks E, Myers L, Willems PJ, Mansour S, Simpson MA, Frysira H, Maat-Kievit A, Van Minkelen R, Hoogeboom JM, Mortier GR, Titheradge H, Brueton L, ... ... Dietz HC, et al. The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. European Journal of Human Genetics : Ejhg. 23: 224-8. PMID 24736733 DOI: 10.1038/ejhg.2014.61  0.36
2014 Lacro RV, Dietz HC, Sleeper LA, Yetman AT, Bradley TJ, Colan SD, Pearson GD, Selamet Tierney ES, Levine JC, Atz AM, Benson DW, Braverman AC, Chen S, De Backer J, Gelb BD, et al. Atenolol versus losartan in children and young adults with Marfan's syndrome. The New England Journal of Medicine. 371: 2061-71. PMID 25405392 DOI: 10.1056/NEJMoa1404731  0.36
2014 Chetaille P, Preuss C, Burkhard S, Côté JM, Houde C, Castilloux J, Piché J, Gosset N, Leclerc S, Wünnemann F, Thibeault M, Gagnon C, Galli A, Tuck E, Hickson GR, ... ... Dietz HC, et al. Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. Nature Genetics. 46: 1245-9. PMID 25282101 DOI: 10.1038/ng.3113  0.36
2014 Bjornsson HT, Benjamin JS, Zhang L, Weissman J, Gerber EE, Chen YC, Vaurio RG, Potter MC, Hansen KD, Dietz HC. Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome. Science Translational Medicine. 6: 256ra135. PMID 25273096 DOI: 10.1126/scitranslmed.3009278  0.36
2014 Lindsay ME, Dietz HC. The genetic basis of aortic aneurysm. Cold Spring Harbor Perspectives in Medicine. 4: a015909. PMID 25183854 DOI: 10.1101/cshperspect.a015909  0.36
2014 Chu LC, Johnson PT, Dietz HC, Fishman EK. CT angiographic evaluation of genetic vascular disease: role in detection, staging, and management of complex vascular pathologic conditions. Ajr. American Journal of Roentgenology. 202: 1120-9. PMID 24758669 DOI: 10.2214/AJR.13.11485  0.36
2014 Ganesh SK, Morissette R, Xu Z, Schoenhoff F, Griswold BF, Yang J, Tong L, Yang ML, Hunker K, Sloper L, Kuo S, Raza R, Milewicz DM, Francomano CA, Dietz HC, et al. Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF-β expression and connective tissue features Faseb Journal. 28: 3313-3324. PMID 24732132 DOI: 10.1096/fj.14-251207  0.36
2014 Coselli JS, Volguina IV, LeMaire SA, Sundt TM, Connolly HM, Stephens EH, Schaff HV, Milewicz DM, Vricella LA, Dietz HC, Minard CG, Miller DC. Early and 1-year outcomes of aortic root surgery in patients with Marfan syndrome: a prospective, multicenter, comparative study. The Journal of Thoracic and Cardiovascular Surgery. 147: 1758-66, 1767.e1-4. PMID 24655904 DOI: 10.1016/j.jtcvs.2014.02.021  0.36
2014 Renard M, Trachet B, Casteleyn C, Campens L, Cornillie P, Callewaert B, Deleye S, Vandeghinste B, Van Heijningen PM, Dietz H, De Vos F, Essers J, Staelens S, Segers P, Loeys B, et al. Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model Plos One. 9. PMID 24587008 DOI: 10.1371/journal.pone.0089749  0.36
2014 Li W, Li Q, Jiao Y, Qin L, Ali R, Zhou J, Ferruzzi J, Kim RW, Geirsson A, Dietz HC, Offermanns S, Humphrey JD, Tellides G. Tgfbr2 disruption in postnatal smooth muscle impairs aortic wall homeostasis. The Journal of Clinical Investigation. 124: 755-67. PMID 24401272 DOI: 10.1172/JCI69942  0.36
2014 Gallo EM, Loch DC, Habashi JP, Calderon JF, Chen Y, Bedja D, van Erp C, Gerber EE, Parker SJ, Sauls K, Judge DP, Cooke SK, Lindsay ME, Rouf R, Myers L, ... ... Dietz HC, et al. Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. The Journal of Clinical Investigation. 124: 448-60. PMID 24355923 DOI: 10.1172/JCI69666  0.36
2014 Liu D, Wang CJ, Judge DP, Halushka MK, Ni J, Habashi JP, Moslehi J, Bedja D, Gabrielson KL, Xu H, Qian F, Huso D, Dietz HC, Germino GG, Watnick T. A Pkd1-Fbn1 genetic interaction implicates TGF-β signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease. Journal of the American Society of Nephrology : Jasn. 25: 81-91. PMID 24071006 DOI: 10.1681/ASN.2012050486  0.36
2014 Nistala H, Lee-Arteaga S, Carta L, Cook JR, Smaldone S, Siciliano G, Rifkin AN, Dietz HC, Rifkin DB, Ramirez F. Differential effects of alendronate and losartan therapy on osteopenia and aortic aneurysm in mice with severe Marfan syndrome [Human Molecular Genetics (2010) 19,24, 4790-4798] DOI: 10.1093/hmg/ddq409 Human Molecular Genetics. 23: 6137. DOI: 10.1093/hmg/ddu452  0.36
2013 Gerber EE, Gallo EM, Fontana SC, Davis EC, Wigley FM, Huso DL, Dietz HC. Integrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma. Nature. 503: 126-30. PMID 24107997 DOI: 10.1038/nature12614  0.36
2013 Tan EW, Offoha RU, Oswald GL, Skolasky RL, Dewan AK, Zhen G, Shapiro JR, Dietz HC, Cao X, Sponseller PD. Increased fracture risk and low bone mineral density in patients with loeys-dietz syndrome. American Journal of Medical Genetics. Part A. 161: 1910-4. PMID 23825031 DOI: 10.1002/ajmg.a.36029  0.36
2013 Kane MS, Lindsay ME, Judge DP, Barrowman J, Ap Rhys C, Simonson L, Dietz HC, Michaelis S. LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset. American Journal of Medical Genetics. Part A. 161: 1599-611. PMID 23666920 DOI: 10.1002/ajmg.a.35971  0.36
2013 Lacro RV, Guey LT, Dietz HC, Pearson GD, Yetman AT, Gelb BD, Loeys BL, Benson DW, Bradley TJ, De Backer J, Forbus GA, Klein GL, Lai WW, Levine JC, Lewin MB, et al. Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy. American Heart Journal. 165: 828-835.e3. PMID 23622922 DOI: 10.1016/j.ahj.2013.02.019  0.36
2013 Kent KC, Crenshaw ML, Goh DL, Dietz HC. Genotype-phenotype correlation in patients with bicuspid aortic valve and aneurysm. The Journal of Thoracic and Cardiovascular Surgery. 146: 158-165.e1. PMID 23102684 DOI: 10.1016/j.jtcvs.2012.09.060  0.36
2013 Nagy CD, Alejo DE, Corretti MC, Ravekes WJ, Crosson JE, Spevak PJ, Ringel R, Carson KA, Khalil S, Dietz HC, Cameron DE, Vricella LA, Traill TA, Holmes KW. Tetralogy of Fallot and aortic root dilation: a long-term outlook. Pediatric Cardiology. 34: 809-16. PMID 23080541 DOI: 10.1007/s00246-012-0537-8  0.36
2013 Renard M, Callewaert B, Baetens M, Campens L, MacDermot K, Fryns JP, Bonduelle M, Dietz HC, Gaspar IM, Cavaco D, Stattin EL, Schrander-Stumpel C, Coucke P, Loeys B, De Paepe A, et al. Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD International Journal of Cardiology. 165: 314-321. PMID 21937134 DOI: 10.1016/j.ijcard.2011.08.079  0.36
2012 Doyle AJ, Doyle JJ, Bessling SL, Maragh S, Lindsay ME, Schepers D, Gillis E, Mortier G, Homfray T, Sauls K, Norris RA, Huso ND, Leahy D, Mohr DW, Caulfield MJ, ... ... Dietz HC, et al. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nature Genetics. 44: 1249-54. PMID 23023332 DOI: 10.1038/ng.2421  0.36
2012 Gould RA, Sinha R, Aziz H, Rouf R, Dietz HC, Judge DP, Butcher J. Multi-scale biomechanical remodeling in aging and genetic mutant murine mitral valve leaflets: insights into Marfan syndrome. Plos One. 7: e44639. PMID 22984535 DOI: 10.1371/journal.pone.0044639  0.36
2012 Li Y, Foss CA, Summerfield DD, Doyle JJ, Torok CM, Dietz HC, Pomper MG, Yu SM. Targeting collagen strands by photo-triggered triple-helix hybridization. Proceedings of the National Academy of Sciences of the United States of America. 109: 14767-72. PMID 22927373 DOI: 10.1073/pnas.1209721109  0.36
2012 Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJ, Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM, ... ... Dietz HC, et al. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nature Genetics. 44: 922-7. PMID 22772368 DOI: 10.1038/ng.2349  0.36
2012 Doyle JJ, Gerber EE, Dietz HC. Matrix-dependent perturbation of TGFβ signaling and disease Febs Letters. 586: 2003-2015. PMID 22641039 DOI: 10.1016/j.febslet.2012.05.027  0.36
2012 Wei H, Bedja D, Koitabashi N, Xing D, Chen J, Fox-Talbot K, Rouf R, Chen S, Steenbergen C, Harmon JW, Dietz HC, Gabrielson KL, Kass DA, Semenza GL. Endothelial expression of hypoxia-inducible factor 1 protects the murine heart and aorta from pressure overload by suppression of TGF-β signaling. Proceedings of the National Academy of Sciences of the United States of America. 109: E841-50. PMID 22403061 DOI: 10.1073/pnas.1202081109  0.36
2012 Chu LC, Johnson PT, Dietz HC, Brooke BS, Arnaoutakis GJ, Black JH, Fishman EK. Vascular complications of Ehlers-Danlos syndrome: CT findings. Ajr. American Journal of Roentgenology. 198: 482-7. PMID 22268198 DOI: 10.2214/AJR.11.6603  0.36
2012 Podowski M, Calvi C, Metzger S, Misono K, Poonyagariyagorn H, Lopez-Mercado A, Ku T, Lauer T, McGrath-Morrow S, Berger A, Cheadle C, Tuder R, Dietz HC, Mitzner W, Wise R, et al. Angiotensin receptor blockade attenuates cigarette smoke-induced lung injury and rescues lung architecture in mice. The Journal of Clinical Investigation. 122: 229-40. PMID 22182843 DOI: 10.1172/JCI46215  0.36
2012 Haskett D, Doyle JJ, Gard C, Chen H, Ball C, Estabrook MA, Encinas AC, Dietz HC, Utzinger U, Vande Geest JP, Azhar M. Altered tissue behavior of a non-aneurysmal descending thoracic aorta in the mouse model of Marfan syndrome. Cell and Tissue Research. 347: 267-77. PMID 22105919 DOI: 10.1007/s00441-011-1270-y  0.36
2012 Song HK, Kindem M, Bavaria JE, Dietz HC, Milewicz DM, Devereux RB, Eagle KA, Maslen CL, Kroner BL, Pyeritz RE, Holmes KW, Weinsaft JW, Menashe V, Ravekes W, LeMaire SA, et al. Long-term implications of emergency versus elective proximal aortic surgery in patients with Marfan syndrome in the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Consortium Registry. The Journal of Thoracic and Cardiovascular Surgery. 143: 282-6. PMID 22104675 DOI: 10.1016/j.jtcvs.2011.10.024  0.36
2012 Cohn RD, Dietz HC. Molecular pathogenesis of skeletal muscle abnormalities in marfan syndrome Muscle. 2: 995-1001. DOI: 10.1016/B978-0-12-381510-1.00071-5  0.36
2011 Kroner BL, Tolunay HE, Basson CT, Pyeritz RE, Holmes KW, Maslen CL, Milewicz DM, LeMaire SA, Hendershot T, Desvigne-Nickens P, Devereux RB, Dietz HC, Song HK, Ringer D, Mitchell M, et al. The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC): results from phase I and scientific opportunities in phase II. American Heart Journal. 162: 627-632.e1. PMID 21982653 DOI: 10.1016/j.ahj.2011.07.002  0.36
2011 McLoughlin D, McGuinness J, Byrne J, Terzo E, Huuskonen V, McAllister H, Black A, Kearney S, Kay E, Hill AD, Dietz HC, Redmond JM. Pravastatin reduces Marfan aortic dilation. Circulation. 124: S168-73. PMID 21911808 DOI: 10.1161/CIRCULATIONAHA.110.012187  0.36
2011 Judge DP, Rouf R, Habashi J, Dietz HC. Mitral valve disease in Marfan syndrome and related disorders. Journal of Cardiovascular Translational Research. 4: 741-7. PMID 21866385 DOI: 10.1007/s12265-011-9314-y  0.36
2011 Patel ND, Arnaoutakis GJ, George TJ, Allen JG, Alejo DE, Dietz HC, Cameron DE, Vricella LA. Valve-sparing aortic root replacement in Loeys-Dietz syndrome. The Annals of Thoracic Surgery. 92: 556-60; discussion 5. PMID 21801912 DOI: 10.1016/j.athoracsur.2011.04.003  0.36
2011 Lindsay ME, Dietz HC. Lessons on the pathogenesis of aneurysm from heritable conditions. Nature. 473: 308-16. PMID 21593863 DOI: 10.1038/nature10145  0.36
2011 Habashi JP, Doyle JJ, Holm TM, Aziz H, Schoenhoff F, Bedja D, Chen Y, Modiri AN, Judge DP, Dietz HC. Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism. Science (New York, N.Y.). 332: 361-5. PMID 21493863 DOI: 10.1126/science.1192152  0.36
2011 Holm TM, Habashi JP, Doyle JJ, Bedja D, Chen Y, van Erp C, Lindsay ME, Kim D, Schoenhoff F, Cohn RD, Loeys BL, Thomas CJ, Patnaik S, Marugan JJ, Judge DP, ... Dietz HC, et al. Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice. Science (New York, N.Y.). 332: 358-61. PMID 21493862 DOI: 10.1126/science.1192149  0.36
2011 Patel ND, Arnaoutakis GJ, George TJ, Allen JG, Alejo DE, Dietz HC, Cameron DE, Vricella LA. Valve-sparing aortic root replacement in children: intermediate-term results. Interactive Cardiovascular and Thoracic Surgery. 12: 415-9, discussion 41. PMID 21118834 DOI: 10.1510/icvts.2010.255596  0.36
2010 Nistala H, Lee-Arteaga S, Carta L, Cook JR, Smaldone S, Siciliano G, Rifkin AN, Dietz HC, Rifkin DB, Ramirez F. Differential effects of alendronate and losartan therapy on osteopenia and aortic aneurysm in mice with severe Marfan syndrome. Human Molecular Genetics. 19: 4790-8. PMID 20871099 DOI: 10.1093/hmg/ddq409  0.36
2010 Cooper TK, Zhong Q, Krawczyk M, Tae HJ, Müller GA, Schubert R, Myers LA, Dietz HC, Talan MI, Briest W. The haploinsufficient Col3a1 mouse as a model for vascular Ehlers-Danlos syndrome. Veterinary Pathology. 47: 1028-39. PMID 20587693 DOI: 10.1177/0300985810374842  0.36
2010 Charbonneau NL, Jordan CD, Keene DR, Lee-Arteaga S, Dietz HC, Rifkin DB, Ramirez F, Sakai LY. Microfibril structure masks fibrillin-2 in postnatal tissues. The Journal of Biological Chemistry. 285: 20242-51. PMID 20404337 DOI: 10.1074/jbc.M109.087031  0.36
2010 Renard M, Holm T, Veith R, Callewaert BL, Adès LC, Baspinar O, Pickart A, Dasouki M, Hoyer J, Rauch A, Trapane P, Earing MG, Coucke PJ, Sakai LY, Dietz HC, et al. Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. European Journal of Human Genetics : Ejhg. 18: 895-901. PMID 20389311 DOI: 10.1038/ejhg.2010.45  0.36
2010 Loeys BL, Gerber EE, Riegert-Johnson D, Iqbal S, Whiteman P, McConnell V, Chillakuri CR, Macaya D, Coucke PJ, De Paepe A, Judge DP, Wigley F, Davis EC, Mardon HJ, Handford P, ... ... Dietz HC, et al. Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Science Translational Medicine. 2: 23ra20. PMID 20375004 DOI: 10.1126/scitranslmed.3000488  0.36
2010 Matt P, Huso DL, Habashi J, Holm T, Doyle J, Schoenhoff F, Liu G, Black J, Van Eyk JE, Dietz HC. Murine model of surgically induced acute aortic dissection type A. The Journal of Thoracic and Cardiovascular Surgery. 139: 1041-7. PMID 19910001 DOI: 10.1016/j.jtcvs.2009.08.039  0.36
2009 Patnaik S, Dietz HC, Zheng W, Austin C, Marugan JJ. Multi-gram scale synthesis of FR180204. The Journal of Organic Chemistry. 74: 8870-3. PMID 19852504 DOI: 10.1021/jo901835m  0.36
2009 Matt P, Schoenhoff F, Habashi J, Holm T, Van Erp C, Loch D, Carlson OD, Griswold BF, Fu Q, De Backer J, Loeys B, Huso DL, McDonnell NB, Van Eyk JE, Dietz HC, et al. Circulating transforming growth factor-beta in Marfan syndrome. Circulation. 120: 526-32. PMID 19635970 DOI: 10.1161/CIRCULATIONAHA.108.841981  0.36
2009 Dang Y, Low WK, Xu J, Gehring NH, Dietz HC, Romo D, Liu JO. Inhibition of nonsense-mediated mRNA decay by the natural product pateamine A through eukaryotic initiation factor 4AIII. The Journal of Biological Chemistry. 284: 23613-21. PMID 19570977 DOI: 10.1074/jbc.M109.009985  0.36
2009 Ramirez F, Dietz HC. Extracellular microfibrils in vertebrate development and disease processes. The Journal of Biological Chemistry. 284: 14677-81. PMID 19188363 DOI: 10.1074/jbc.R900004200  0.36
2009 Carta L, Smaldone S, Zilberberg L, Loch D, Dietz HC, Rifkin DB, Ramirez F. p38 MAPK is an early determinant of promiscuous Smad2/3 signaling in the aortas of fibrillin-1 (Fbn1)-null mice. The Journal of Biological Chemistry. 284: 5630-6. PMID 19109253 DOI: 10.1074/jbc.M806962200  0.36
2009 Dabovic B, Chen Y, Choi J, Vassallo M, Dietz HC, Ramirez F, von Melchner H, Davis EC, Rifkin DB. Dual functions for LTBP in lung development: LTBP-4 independently modulates elastogenesis and TGF-beta activity. Journal of Cellular Physiology. 219: 14-22. PMID 19016471 DOI: 10.1002/jcp.21643  0.36
2009 Maleszewski JJ, Miller DV, Lu J, Dietz HC, Halushka MK. Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS). The American Journal of Surgical Pathology. 33: 194-201. PMID 18852674 DOI: 10.1097/PAS.0b013e31817f3661  0.36
2008 Pearson GD, Devereux R, Loeys B, Maslen C, Milewicz D, Pyeritz R, Ramirez F, Rifkin D, Sakai L, Svensson L, Wessels A, Van Eyk J, Dietz HC. Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders. Circulation. 118: 785-91. PMID 18695204 DOI: 10.1161/CIRCULATIONAHA.108.783753  0.36
2008 Garringer HJ, Malekpour M, Esteghamat F, Mortazavi SM, Davis SI, Farrow EG, Yu X, Arking DE, Dietz HC, White KE. Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis. American Journal of Physiology. Endocrinology and Metabolism. 295: E929-37. PMID 18682534 DOI: 10.1152/ajpendo.90456.2008  0.36
2008 Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC. Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. The New England Journal of Medicine. 358: 2787-95. PMID 18579813 DOI: 10.1056/NEJMoa0706585  0.36
2008 Phillips JA, Poling JS, Phillips CA, Stanton KC, Austin ED, Cogan JD, Wheeler L, Yu C, Newman JH, Dietz HC, Loyd JE. Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 10: 359-65. PMID 18496036 DOI: 10.1097/GIM.0b013e318172dcdf  0.36
2008 Matt P, Habashi J, Carrel T, Cameron DE, Van Eyk JE, Dietz HC. Recent advances in understanding Marfan syndrome: should we now treat surgical patients with losartan? The Journal of Thoracic and Cardiovascular Surgery. 135: 389-94. PMID 18242274 DOI: 10.1016/j.jtcvs.2007.08.047  0.36
2008 Xiong W, Knispel RA, Dietz HC, Ramirez F, Baxter BT. Doxycycline delays aneurysm rupture in a mouse model of Marfan syndrome. Journal of Vascular Surgery. 47: 166-72; discussion 1. PMID 18178469 DOI: 10.1016/j.jvs.2007.09.016  0.36
2008 Judge DP, Dietz HC. Therapy of Marfan syndrome Annual Review of Medicine. 59: 43-59. PMID 17845137 DOI: 10.1146/annurev.med.59.103106.103801  0.36
2007 Lacro RV, Dietz HC, Wruck LM, Bradley TJ, Colan SD, Devereux RB, Klein GL, Li JS, Minich LL, Paridon SM, Pearson GD, Printz BF, Pyeritz RE, Radojewski E, Roman MJ, et al. Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome. American Heart Journal. 154: 624-31. PMID 17892982 DOI: 10.1016/j.ahj.2007.06.024  0.36
2007 Ramirez F, Dietz HC. Fibrillin-rich microfibrils: Structural determinants of morphogenetic and homeostatic events. Journal of Cellular Physiology. 213: 326-30. PMID 17708531 DOI: 10.1002/jcp.21189  0.36
2007 Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, et al. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. American Journal of Human Genetics. 81: 454-66. PMID 17701892 DOI: 10.1086/520125  0.36
2007 Loscalzo ML, Goh DL, Loeys B, Kent KC, Spevak PJ, Dietz HC. Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. American Journal of Medical Genetics. Part A. 143: 1960-7. PMID 17676603 DOI: 10.1002/ajmg.a.31872  0.36
2007 Chung AWY, Au Yeung K, Sandor GGS, Judge DP, Dietz HC, Van Breemen C. Loss of elastic fiber integrity and reduction of vascular smooth muscle contraction resulting from the upregulated activities of matrix metalloproteinase-2 and -9 in the thoracic aortic aneurysm in Marfan syndrome Circulation Research. 101: 512-522. PMID 17641224 DOI: 10.1161/CIRCRESAHA.107.157776  0.36
2007 Ramirez F, Dietz HC. Marfan syndrome: from molecular pathogenesis to clinical treatment. Current Opinion in Genetics & Development. 17: 252-8. PMID 17467262 DOI: 10.1016/j.gde.2007.04.006  0.36
2007 Holmes KW, Lehmann CU, Dalal D, Nasir K, Dietz HC, Ravekes WJ, Thompson WR, Spevak PJ. Progressive dilation of the ascending aorta in children with isolated bicuspid aortic valve. The American Journal of Cardiology. 99: 978-83. PMID 17398196 DOI: 10.1016/j.amjcard.2006.10.065  0.36
2007 Hanada K, Vermeij M, Garinis GA, de Waard MC, Kunen MG, Myers L, Maas A, Duncker DJ, Meijers C, Dietz HC, Kanaar R, Essers J. Perturbations of vascular homeostasis and aortic valve abnormalities in fibulin-4 deficient mice. Circulation Research. 100: 738-46. PMID 17293478 DOI: 10.1161/01.RES.0000260181.19449.95  0.36
2007 Jones KB, Sponseller PD, Erkula G, Sakai L, Ramirez F, Dietz HC, Kost-Byerly S, Bridwell KH, Sandell L. Symposium on the musculoskeletal aspects of Marfan syndrome: meeting report and state of the science. Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society. 25: 413-22. PMID 17143900 DOI: 10.1002/jor.20314  0.36
2007 Ramirez F, Dietz HC. Marfan syndrome: from molecular pathogenesis to clinical treatment [Curr. Opin. Genet. Dev. 17 (2007) 252-258] (DOI:10.1016/j.gde.2007.04.006) Current Opinion in Genetics and Development. 17: 367. DOI: 10.1016/j.gde.2007.07.003  0.36
2006 Guo G, Booms P, Halushka M, Dietz HC, Ney A, Stricker S, Hecht J, Mundlos S, Robinson PN. Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment. Circulation. 114: 1855-62. PMID 17030689 DOI: 10.1161/CIRCULATIONAHA.105.601674  0.36
2006 Viassolo V, Lituania M, Marasini M, Dietz H, Benelli F, Forzano F, Faravelli F. Fetal aortic root dilation: A prenatal feature of the Loeys-Dietz syndrome Prenatal Diagnosis. 26: 1081-1083. PMID 16981219 DOI: 10.1002/pd.1565  0.36
2006 Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, ... ... Dietz HC, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. The New England Journal of Medicine. 355: 788-98. PMID 16928994 DOI: 10.1056/NEJMoa055695  0.36
2006 De Backer J, Loeys B, Devos D, Dietz H, De Sutter J, De Paepe A. A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome Genetics in Medicine. 8: 401-408. PMID 16845272 DOI: 10.1097/01.gim.0000223550.41849.e3  0.36
2006 Awad MM, Dalal D, Cho E, Amat-Alarcon N, James C, Tichnell C, Tucker A, Russell SD, Bluemke DA, Dietz HC, Calkins H, Judge DP. DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy American Journal of Human Genetics. 79: 136-142. PMID 16773573 DOI: 10.1086/504393  0.36
2006 Habashi JP, Judge DP, Holm TM, Cohn RD, Loeys BL, Cooper TK, Myers L, Klein EC, Liu G, Calvi C, Podowski M, Neptune ER, Halushka MK, Bedja D, Gabrielson K, ... ... Dietz HC, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science (New York, N.Y.). 312: 117-21. PMID 16601194 DOI: 10.1126/science.1124287  0.36
2006 Robinson PN, Arteaga-Solis E, Baldock C, Collod-Béroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, et al. The molecular genetics of Marfan syndrome and related disorders. Journal of Medical Genetics. 43: 769-87. PMID 16571647 DOI: 10.1136/jmg.2005.039669  0.36
2006 Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, et al. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nature Genetics. 38: 452-7. PMID 16550171 DOI: 10.1038/ng1764  0.36
2006 Sponseller PD, Jones KB, Ahn NU, Erkula G, Foran JR, Dietz HC. Protrusio acetabuli in Marfan syndrome: age-related prevalence and associated hip function. The Journal of Bone and Joint Surgery. American Volume. 88: 486-95. PMID 16510812 DOI: 10.2106/JBJS.E.00611  0.36
2006 Badano JL, Leitch CC, Ansley SJ, May-Simera H, Lawson S, Lewis RA, Beales PL, Dietz HC, Fisher S, Katsanis N. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature. 439: 326-30. PMID 16327777 DOI: 10.1038/nature04370  0.36
2005 Vricella LA, Williams JA, Ravekes WJ, Holmes KW, Dietz HC, Gott VL, Cameron DE. Early experience with valve-sparing aortic root replacement in children. The Annals of Thoracic Surgery. 80: 1622-6; discussion 1. PMID 16242427 DOI: 10.1016/j.athoracsur.2005.04.062  0.36
2005 Miller NH, Justice CM, Marosy B, Doheny KF, Pugh E, Zhang J, Dietz HC, Wilson AF. Identification of candidate regions for familial idiopathic scoliosis. Spine. 30: 1181-7. PMID 15897833 DOI: 10.1097/01.brs.0000162282.46160.0a  0.36
2005 Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, ... ... Dietz HC, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nature Genetics. 37: 275-81. PMID 15731757 DOI: 10.1038/ng1511  0.36
2005 Jones KB, Myers L, Judge DP, Kirby PA, Dietz HC, Sponseller PD. Toward an understanding of dural ectasia: a light microscopy study in a murine model of Marfan syndrome. Spine. 30: 291-3. PMID 15682009 DOI: 10.1097/01.brs.0000152166.88174.1c  0.36
2005 Arking DE, Atzmon G, Arking A, Barzilai N, Dietz HC. Association between a functional variant of the KLOTHO gene and high-density lipoprotein cholesterol, blood pressure, stroke, and longevity. Circulation Research. 96: 412-8. PMID 15677572 DOI: 10.1161/01.RES.0000157171.04054.30  0.36
2005 Marbán E, Bolli R, Breitwieser G, Busse R, Dietz H, Endoh M, Finkel T, Griendling K, Kass D, Lowenstein C, Tomaselli G, Keehan KH. Circulation Research Editors' Annual Report for 2004 Circulation Research. 96: 269-271. DOI: 10.1161/01.RES.0000157576.83915.3c  0.36
2004 Ramirez F, Dietz HC. Therapy insight: aortic aneurysm and dissection in Marfan's syndrome. Nature Clinical Practice. Cardiovascular Medicine. 1: 31-6. PMID 16265257 DOI: 10.1038/ncpcardio0020  0.36
2004 Ng CM, Cheng A, Myers LA, Martinez-Murillo F, Jie C, Bedja D, Gabrielson KL, Hausladen JM, Mecham RP, Judge DP, Dietz HC. TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. The Journal of Clinical Investigation. 114: 1586-92. PMID 15546004 DOI: 10.1172/JCI22715  0.36
2004 Ramirez F, Sakai LY, Dietz HC, Rifkin DB. Fibrillin microfibrils: multipurpose extracellular networks in organismal physiology. Physiological Genomics. 19: 151-4. PMID 15466717 DOI: 10.1152/physiolgenomics.00092.2004  0.36
2004 Judge DP, Biery NJ, Keene DR, Geubtner J, Myers L, Huso DL, Sakai LY, Dietz HC. Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. The Journal of Clinical Investigation. 114: 172-81. PMID 15254584 DOI: 10.1172/JCI20641  0.36
2003 Hutchinson S, Furger A, Halliday D, Judge DP, Jefferson A, Dietz HC, Firth H, Handford PA. Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype? Human Molecular Genetics. 12: 2269-76. PMID 12915484 DOI: 10.1093/hmg/ddg241  0.36
2003 Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, Gayraud B, Ramirez F, Sakai LY, Dietz HC. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nature Genetics. 33: 407-11. PMID 12598898 DOI: 10.1038/ng1116  0.36
2002 Erkula G, Jones KB, Sponseller PD, Dietz HC, Pyeritz RE. Growth and maturation in Marfan syndrome American Journal of Medical Genetics. 109: 100-115. PMID 11977157 DOI: 10.1002/ajmg.10312  0.36
2002 van Hoof A, Frischmeyer PA, Dietz HC, Parker R. Exosome-mediated recognition and degradation of mRNAs lacking a termination codon. Science (New York, N.Y.). 295: 2262-4. PMID 11910110 DOI: 10.1126/science.1067272  1
2002 Frischmeyer PA, van Hoof A, O'Donnell K, Guerrerio AL, Parker R, Dietz HC. An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science (New York, N.Y.). 295: 2258-61. PMID 11910109 DOI: 10.1126/science.1067338  1
2002 Gott VL, Cameron DE, Alejo DE, Greene PS, Shake JG, Caparrelli DJ, Dietz HC. Aortic root replacement in 271 Marfan patients: a 24-year experience. The Annals of Thoracic Surgery. 73: 438-43. PMID 11845856 DOI: 10.1016/S0003-4975(01)03336-7  0.36
2002 Arking DE, Krebsova A, Macek M, Macek M, Arking A, Mian IS, Fried L, Hamosh A, Dey S, McIntosh I, Dietz HC. Association of human aging with a functional variant of klotho. Proceedings of the National Academy of Sciences of the United States of America. 99: 856-61. PMID 11792841 DOI: 10.1073/pnas.022484299  0.36
2001 Medghalchi SM, Frischmeyer PA, Mendell JT, Kelly AG, Lawler AM, Dietz HC. Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability. Human Molecular Genetics. 10: 99-105. PMID 11152657 DOI: 10.1093/HMG/10.2.99  1
2000 Dietz HC, Mecham RP. Mouse models of genetic diseases resulting from mutations in elastic fiber proteins Matrix Biology. 19: 481-488. PMID 11068202 DOI: 10.1016/S0945-053X(00)00101-3  0.36
1999 Frischmeyer PA, Dietz HC. Nonsense-mediated mRNA decay in health and disease. Human Molecular Genetics. 8: 1893-900. PMID 10469842  1
1999 Pereira L, Lee SY, Gayraud B, Andrikopoulos K, Shapiro SD, Bunton T, Biery NJ, Dietz HC, Sakai LY, Ramirez F. Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1. Proceedings of the National Academy of Sciences of the United States of America. 96: 3819-23. PMID 10097121 DOI: 10.1073/pnas.96.7.3819  0.36
1998 Montgomery RA, Geraghty MT, Bull E, Gelb BD, Johnson M, McIntosh I, Francomano CA, Dietz HC. Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome American Journal of Human Genetics. 63: 1703-1711. PMID 9837823 DOI: 10.1086/302144  0.36
1998 Czaplinski K, Ruiz-Echevarria MJ, Paushkin SV, Han X, Weng Y, Perlick HA, Dietz HC, Ter-Avanesyan MD, Peltz SW. The surveillance complex interacts with the translation release factors to enhance termination and degrade aberrant mRNAs. Genes & Development. 12: 1665-77. PMID 9620853 DOI: 10.1101/GAD.12.11.1665  0.36
1997 Pereira L, Andrikopoulos K, Tian J, Lee SY, Keene DR, Ono R, Reinhardt DP, Sakai LY, Biery NJ, Bunton T, Dietz HC, Ramirez F. Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nature Genetics. 17: 218-22. PMID 9326947 DOI: 10.1038/ng1097-218  0.36
1997 Polymeropoulos MH, Hurko O, Hsu F, Rubenstein J, Basnet S, Lane K, Dietz H, Spetzler RF, Rigamonti D. Linkage of the locus for cerebral cavernous hemangiomas to human chromosome 7q in four families of Mexican-American descent. Neurology. 48: 752-7. PMID 9065560 DOI: 10.1212/WNL.48.3.752  0.36
1996 O'Brien KL, Dietz HC, Romagnoli M, Eiden J. Evaluation of inhA gene and catalase-peroxidase gene among isoniazid-sensitive and resistant Mycobacterium tuberculosis isolates Molecular and Cellular Probes. 10: 1-6. PMID 8684371 DOI: 10.1006/mcpr.1996.0001  0.36
1996 Gott VL, Laschinger JC, Cameron DE, Dietz HC, Greene PS, Gillinov AM, Pyeritz RE, Alejo DE, Fleischer KJ, Anhalt GJ, Stone CD, McKusick VA. The Marfan syndrome and the cardiovascular surgeon. European Journal of Cardio-Thoracic Surgery : Official Journal of the European Association For Cardio-Thoracic Surgery. 10: 149-58. PMID 8664013 DOI: 10.1016/S1010-7940(96)80289-2  0.36
1996 Dietz HC, Hamosh A, Bedwell DM, Howard M, Frizzell RA. Nonstop treatment of cystic fibrosis [2] Nature Medicine. 2: 608-609. PMID 8640540 DOI: 10.1038/NM0696-608B  0.36
1995 Dietz H, Francke U, Furthmayr H, Francomano C, De Paepe A, Devereux R, Ramirez F, Pyeritz R. The question of heterogeneity in Marfan syndrome Nature Genetics. 9: 228-231. PMID 7773282 DOI: 10.1038/NG0395-228  0.36
1994 Aoyama T, Francke U, Dietz HC, Furthmayr H. Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of marfan syndrome patients and suggest distinct pathogenetic mechanisms Journal of Clinical Investigation. 94: 130-137. PMID 8040255 DOI: 10.1172/JCI117298  0.36
1994 Pereira L, Levran O, Ramirez F, Lynch JR, Sykes B, Pyeritz RE, Dietz HC. A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome New England Journal of Medicine. 331: 148-153. PMID 8008028 DOI: 10.1056/NEJM199407213310302  0.36
1994 Dietz HC, Ramirez F, Sakai LY. Marfan's syndrome and other microfibrillar diseases. Advances in Human Genetics. 22: 153-86. PMID 7762452 DOI: 10.1007/978-1-4757-9062-7_4  0.36
1993 Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA. Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics. 17: 468-75. PMID 8406497 DOI: 10.1006/geno.1993.1349  0.36
1993 Aoyama T, Tynan K, Dietz HC, Francke U, Furthmayr H. Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome Human Molecular Genetics. 2: 2135-2140. PMID 8111384 DOI: 10.1093/HMG/2.12.2135  0.36
1993 Corson GM, Chalberg SC, Dietz HC, Charbonneau NL, Sakai LY. Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end. Genomics. 17: 476-84. PMID 7691719 DOI: 10.1006/geno.1993.1350  0.36
1992 Dietz HC, Pyeritz RE, Puffenberger EG, Kendzior RJ, Corson GM, Maslen CL, Sakai LY, Francomano CA, Cutting GR. Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. The Journal of Clinical Investigation. 89: 1674-80. PMID 1569206 DOI: 10.1172/JCI115766  0.36
1992 Hayward C, Keston M, Brock DJ, Dietz HC. Fibrillin (FBN1) mutations in Marfan syndrome. Human Mutation. 1: 79. PMID 1301195 DOI: 10.1002/humu.1380010115  0.36
1991 Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 352: 337-9. PMID 1852208 DOI: 10.1038/352337a0  0.36
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