1 - 25 of 29 results for author:"Martignetti J.A." in Literature citations
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| Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. Evans B.R., Mosig R.A., Lobl M., Martignetti C.R., Camacho C., Grum-Tokars V., Glucksman M.J., Martignetti J.A. Am. J. Hum. Genet. 91:572-576(2012) · Mapped (5) |
| A new feature of the MYH9-related syndrome: chronic transaminase elevation. Favier R., DiFeo A., Hezard N., Fabre M., Bedossa P., Martignetti J.A. Hepatology 57:1288-1289(2013) · Mapped (10) |
| Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts. Camacho-Vanegas O., Camacho S.C., Till J., Miranda-Lorenzo I., Terzo E., Ramirez M.C., Schramm V., Cordovano G., Watts G., Mehta S. et al. Am. J. Hum. Genet. 90:614-627(2012) · UniProtKB (1) |
| Ligand-dependent corepressor (LCoR) recruitment by Kruppel-like factor 6 (KLF6) regulates expression of the cyclin-dependent kinase inhibitor CDKN1A gene. Calderon M.R., Verway M., An B.S., DiFeo A., Bismar T.A., Ann D.K., Martignetti J.A., Shalom-Barak T., White J.H. J. Biol. Chem. 287:8662-8674(2012) · Mapped (2) |
| Phosphorylation of the myosin IIA tailpiece regulates single myosin IIA molecule association with lytic granules to promote NK-cell cytotoxicity. Sanborn K.B., Mace E.M., Rak G.D., Difeo A., Martignetti J.A., Pecci A., Bussel J.B., Favier R., Orange J.S. Blood 118:5862-5871(2011) · Mapped (10) |
| Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors. Deuquet J., Lausch E., Guex N., Abrami L., Salvi S., Lakkaraju A., Ramirez M.C., Martignetti J.A., Rokicki D., Bonafe L. et al. EMBO Mol Med 3:208-221(2011) · Mapped (3) |
| The first report of homozygous May-Hegglin anomaly E1841K mutation. Poopak B., Rezvani H., Difeo A., Martignetti J.A., Khosravipour G., Yousefian A., Farahani K., Haghnejad Doshanlo F., Saki N. Eur. J. Haematol. 86:357-357(2011) · Mapped (10) |
| Loss of matrix metalloproteinase-2 amplifies murine toxin-induced liver fibrosis by upregulating collagen I expression. Radbill B.D., Gupta R., Ramirez M.C., DiFeo A., Martignetti J.A., Alvarez C.E., Friedman S.L., Narla G., Vrabie R., Bowles R. et al. Dig. Dis. Sci. 56:406-416(2011) · Mapped (4) |
| Emerging roles of Kruppel-like factor 6 and Kruppel-like factor 6 splice variant 1 in ovarian cancer progression and treatment. DiFeo A., Narla G., Martignetti J.A. Mt. Sinai J. Med. 76:557-566(2009) · Mapped (5) |
| Myosin IIA associates with NK cell lytic granules to enable their interaction with F-actin and function at the immunological synapse. Sanborn K.B., Rak G.D., Maru S.Y., Demers K., Difeo A., Martignetti J.A., Betts M.R., Favier R., Banerjee P.P., Orange J.S. J. Immunol. 182:6969-6984(2009) · Mapped (10) |
| Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum. Deuquet J., Abrami L., Difeo A., Ramirez M.C., Martignetti J.A., van der Goot F.G. Hum. Mutat. 30:583-589(2009) · Mapped (3) |
| Pivotal role of mTOR signaling in hepatocellular carcinoma. Villanueva A., Chiang D.Y., Newell P., Peix J., Thung S., Alsinet C., Tovar V., Roayaie S., Minguez B., Sole M. et al. Gastroenterology 135:1972-83, 2008:1983.e1-11(2008) · Mapped (8) |
| KLF6-SV1 overexpression accelerates human and mouse prostate cancer progression and metastasis. Narla G., DiFeo A., Fernandez Y., Dhanasekaran S., Huang F., Sangodkar J., Hod E., Leake D., Friedman S.L., Hall S.J. et al. J. Clin. Invest. 118:2711-2721(2008) · Mapped (5) |
| Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth. Mosig R.A., Dowling O., DiFeo A., Ramirez M.C., Parker I.C., Abe E., Diouri J., Aqeel A.A., Wylie J.D., Oblander S.A. et al. Hum. Mol. Genet. 16:1113-1123(2007) · Mapped (4) |
| Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? Utsch B., DiFeo A., Kujat A., Karle S., Schuster V., Lenk H., Jacobs U., Mueller M., Doetsch J., Rascher W. et al. Am. J. Med. Genet. A 140:2251-2253(2006) · UniProtKB (1) |
| E-cadherin is a novel transcriptional target of the KLF6 tumor suppressor. DiFeo A., Narla G., Camacho-Vanegas O., Nishio H., Rose S.L., Buller R.E., Friedman S.L., Walsh M.J., Martignetti J.A. Oncogene 25:6026-6031(2006) · Mapped (6) |
| KLF6 is one transcription factor involved in regulating acid ceramidase gene expression. Park J.H., Eliyahu E., Narla G., DiFeo A., Martignetti J.A., Schuchman E.H. Biochim. Biophys. Acta 1732:82-87(2005) · Mapped (16) |
| A germline DNA polymorphism enhances alternative splicing of the KLF6 tumor suppressor gene and is associated with increased prostate cancer risk. Narla G., Difeo A., Reeves H.L., Schaid D.J., Hirshfeld J., Hod E., Katz A., Isaacs W.B., Hebbring S., Komiya A. et al. Cancer Res. 65:1213-1222(2005) · Mapped (5) |
| MYH9 spectrum of autosomal-dominant giant platelet syndromes: unexpected association with fibulin-1 variant-D inactivation. Toren A., Rozenfeld-Granot G., Heath K.E., Amariglio N., Rocca B., Crosson J., Epstein C.J., Laghi F., Landolfi R., Carlsson L.E. et al. Am. J. Hematol. 74:254-262(2003) · Mapped (3) |
| Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Dowling O., Difeo A., Ramirez M.C., Tukel T., Narla G., Bonafe L., Kayserili H., Yuksel-Apak M., Paller A.S., Norton K. et al. Am. J. Hum. Genet. 73:957-966(2003) · UniProtKB (1) · Mapped (2) |
| KLF6, a candidate tumor suppressor gene mutated in prostate cancer. Narla G., Heath K.E., Reeves H.L., Li D., Giono L.E., Kimmelman A.C., Glucksman M.J., Narla J., Eng F.J., Chan A.M. et al. |
| Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Heath K.E., Campos-Barros A., Toren A., Rozenfeld-Granot G., Carlsson L.E., Savige J., Denison J.C., Gregory M.C., White J.G., Barker D.F. et al. Am. J. Hum. Genet. 69:1033-1045(2001) · UniProtKB (1) · Mapped (9) |
| Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. Martignetti J.A., Aqeel A.A., Sewairi W.A., Boumah C.E., Kambouris M., Mayouf S.A., Sheth K.V., Eid W.A., Dowling O., Harris J. et al. Nat. Genet. 28:261-265(2001) · UniProtKB (1) |
| Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. Seri M., Cusano M., Gangarossa S., Caridi G., Bordo D., Lo Nigro C., Ghiggeri G.M., Ravazzolo R., Savino M., Del Vecchio M. et al. |
| The neuropeptide processing enzyme EC 3.4.24.15 is modulated by protein kinase A phosphorylation. Tullai J.W., Cummins P.M., Pabon A., Roberts J.L., Lopingco M.C., Shrimpton C.N., Smith A.I., Martignetti J.A., Ferro E.S., Glucksman M.J. J. Biol. Chem. 275:36514-36522(2000) · UniProtKB (1) · Mapped (1) |