1 - 25 of 72 results for author:"Dietz H.C." in Literature citations
Results Customize
› Repeat search in UniProtKB (32)
| Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Doyle A.J., Doyle J.J., Bessling S.L., Maragh S., Lindsay M.E., Schepers D., Gillis E., Mortier G., Homfray T., Sauls K. et al. Nat. Genet. 44:1249-1254(2012) · Mapped (5) |
| Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Lindsay M.E., Schepers D., Bolar N.A., Doyle J.J., Gallo E., Fert-Bober J., Kempers M.J., Fishman E.K., Chen Y., Myers L. et al. |
| Matrix-dependent perturbation of TGFbeta signaling and disease. Doyle J.J., Gerber E.E., Dietz H.C. FEBS Lett. 586:2003-2015(2012) · Mapped (9) |
| Endothelial expression of hypoxia-inducible factor 1 protects the murine heart and aorta from pressure overload by suppression of TGF-beta signaling. Wei H., Bedja D., Koitabashi N., Xing D., Chen J., Fox-Talbot K., Rouf R., Chen S., Steenbergen C., Harmon J.W. et al. Proc. Natl. Acad. Sci. U.S.A. 109:E841-50(2012) · Mapped (3) |
| Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. van de Laar I.M., van der Linde D., Oei E.H., Bos P.K., Bessems J.H., Bierma-Zeinstra S.M., van Meer B.L., Pals G., Oldenburg R.A., Bekkers J.A. et al. J. Med. Genet. 49:47-57(2012) · Mapped (6) |
| Perturbation of thymocyte development in nonsense-mediated decay (NMD)-deficient mice. Frischmeyer-Guerrerio P.A., Montgomery R.A., Warren D.S., Cooke S.K., Lutz J., Sonnenday C.J., Guerrerio A.L., Dietz H.C. Proc. Natl. Acad. Sci. U.S.A. 108:10638-10643(2011) · Mapped (7) |
| Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism. Habashi J.P., Doyle J.J., Holm T.M., Aziz H., Schoenhoff F., Bedja D., Chen Y., Modiri A.N., Judge D.P., Dietz H.C. Science 332:361-365(2011) · Mapped (16) |
| Noncanonical TGFbeta signaling contributes to aortic aneurysm progression in Marfan syndrome mice. Holm T.M., Habashi J.P., Doyle J.J., Bedja D., Chen Y., van Erp C., Lindsay M.E., Kim D., Schoenhoff F., Cohn R.D. et al. Science 332:358-361(2011) · Mapped (29) |
| Differential effects of alendronate and losartan therapy on osteopenia and aortic aneurysm in mice with severe Marfan syndrome. Nistala H., Lee-Arteaga S., Carta L., Cook J.R., Smaldone S., Siciliano G., Rifkin A.N., Dietz H.C., Rifkin D.B., Ramirez F. Hum. Mol. Genet. 19:4790-4798(2010) · Mapped (8) |
| The haploinsufficient Col3a1 mouse as a model for vascular Ehlers-Danlos syndrome. Cooper T.K., Zhong Q., Krawczyk M., Tae H.J., Muller G.A., Schubert R., Myers L.A., Dietz H.C., Talan M.I., Briest W. Vet. Pathol. 47:1028-1039(2010) · Mapped (12) |
| Microfibril structure masks fibrillin-2 in postnatal tissues. Charbonneau N.L., Jordan C.D., Keene D.R., Lee-Arteaga S., Dietz H.C., Rifkin D.B., Ramirez F., Sakai L.Y. J. Biol. Chem. 285:20242-20251(2010) · Mapped (13) |
| Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. Renard M., Holm T., Veith R., Callewaert B.L., Ades L.C., Baspinar O., Pickart A., Dasouki M., Hoyer J., Rauch A. et al. Eur. J. Hum. Genet. 18:895-901(2010) · Mapped (15) |
| Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Loeys B.L., Gerber E.E., Riegert-Johnson D., Iqbal S., Whiteman P., McConnell V., Chillakuri C.R., Macaya D., Coucke P.J., De Paepe A. et al. Sci. Transl. Med. 2:23RA20-23RA20(2010) · UniProtKB (1) · Mapped (5) |
| Circulating transforming growth factor-beta in Marfan syndrome. GenTAC Consortium Circulation 120:526-532(2009) · Mapped (8) |
| p38 MAPK is an early determinant of promiscuous Smad2/3 signaling in the aortas of fibrillin-1 (Fbn1)-null mice. Carta L., Smaldone S., Zilberberg L., Loch D., Dietz H.C., Rifkin D.B., Ramirez F. J. Biol. Chem. 284:5630-5636(2009) · Mapped (8) |
| Dual functions for LTBP in lung development: LTBP-4 independently modulates elastogenesis and TGF-beta activity. Dabovic B., Chen Y., Choi J., Vassallo M., Dietz H.C., Ramirez F., von Melchner H., Davis E.C., Rifkin D.B. J. Cell. Physiol. 219:14-22(2009) · Mapped (4) |
| Krit1 modulates beta 1-integrin-mediated endothelial cell proliferation. Zhang J., Basu S., Rigamonti D., Dietz H.C., Clatterbuck R.E. Neurosurgery 63:571-578(2008) · Mapped (8) |
| Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders. Pearson G.D., Devereux R., Loeys B., Maslen C., Milewicz D., Pyeritz R., Ramirez F., Rifkin D., Sakai L., Svensson L. et al. Circulation 118:785-791(2008) · Mapped (8) |
| Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis. Garringer H.J., Malekpour M., Esteghamat F., Mortazavi S.M., Davis S.I., Farrow E.G., Yu X., Arking D.E., Dietz H.C., White K.E. Am. J. Physiol. Endocrinol. Metab. 295:E929-37(2008) · Mapped (2) |
| Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension. Phillips J.A., Poling J.S., Phillips C.A., Stanton K.C., Austin E.D., Cogan J.D., Wheeler L., Yu C., Newman J.H., Dietz H.C. et al. Genet. Med. 10:359-365(2008) · Mapped (11) |
| Targeted disruption of NeuroD, a proneural basic helix-loop-helix factor, impairs distal lung formation and neuroendocrine morphology in the neonatal lung. Neptune E.R., Podowski M., Calvi C., Cho J.H., Garcia J.G., Tuder R., Linnoila R.I., Tsai M.J., Dietz H.C. J. Biol. Chem. 283:21160-21169(2008) · UniProtKB (1) · Mapped (11) |
| 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. Faivre L., Collod-Beroud G., Loeys B.L., Child A., Binquet C., Gautier E., Callewaert B., Arbustini E., Mayer K., Arslan-Kirchner M. et al. Am. J. Hum. Genet. 81:454-466(2007) · Mapped (6) |
| 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. Chung A.W., Au Yeung K., Sandor G.G., Judge D.P., Dietz H.C., van Breemen C. Circ. Res. 101:512-522(2007) · Mapped (12) |
| Manipulating mitotic recombination in the zebrafish embryo through RecQ helicases. Xie J., Bessling S.L., Cooper T.K., Dietz H.C., McCallion A.S., Fisher S. Genetics 176:1339-1342(2007) · Mapped (6) |
| Endothelial dysfunction and compromised eNOS/Akt signaling in the thoracic aorta during the progression of Marfan syndrome. Chung A.W., Au Yeung K., Cortes S.F., Sandor G.G., Judge D.P., Dietz H.C., van Breemen C. Br. J. Pharmacol. 150:1075-1083(2007) · Mapped (8) |