Keywords
Last Name
Institution

John A. Martignetti

TitleASSOCIATE PROFESSOR
InstitutionMount Sinai
DepartmentGenetics and Genomic Sciences
AddressDepartment of Human Genetics
1425 Madison Avenue
New York NY 10029
Phone212-659-6744
Fax212-849-2638
    Other Positions
    TitleASSOCIATE PROFESSOR
    InstitutionMount Sinai
    DepartmentOncological Sciences

    TitleASSOCIATE PROFESSOR
    InstitutionMount Sinai
    DepartmentPediatrics

    TitleASSOCIATE PROFESSOR
    InstitutionMount Sinai
    DepartmentObstetrics, Gynecology and Reproductive Science


     Bibliographic 
     selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Shalata A, Ramirez MC, Desnick RJ, Priedigkeit N, Buettner C, Lindtner C, Mahroum M, Abdul-Ghani M, Dong F, Arar N, Camacho-Vanegas O, Zhang R, Camacho SC, Chen Y, Ibdah M, Defronzo R, Gillespie V, Kelley K, Dynlacht BD, Kim S, Glucksman MJ, Borochowitz ZU, Martignetti JA. Morbid Obesity Resulting from Inactivation of the Ciliary Protein CEP19 in Humans and Mice. Am J Hum Genet. 2013 Dec 5; 93(6):1061-71.
      View in: PubMed
    2. Favier R, Feriel J, Favier M, Denoyelle F, Martignetti JA. First successful use of eltrombopag before surgery in a child with MYH9-related thrombocytopenia. Pediatrics. 2013 Sep; 132(3):e793-5.
      View in: PubMed
    3. Castberg FC, Kjaergaard S, Mosig RA, Lobl M, Martignetti C, Martignetti JA, Myrup C, Zak M. Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review. Eur J Pediatr. 2013 Dec; 172(12):1657-63.
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    4. Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, Metry D, Fournet JC, Papp E, McPherson EW, Zabel C, Vaksmann G, Morisot C, Keating B, Sleiman PM, Cleveland JA, Everman DB, Zackai E, Hakonarson H. Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis. Am J Hum Genet. 2013 Jun 6; 92(6):1001-7.
      View in: PubMed
    5. Favier R, DiFeo A, Hezard N, Fabre M, Bedossa P, Martignetti JA. A new feature of the MYH9-related syndrome: chronic transaminase elevation. Hepatology. 2013 Mar; 57(3):1288-9.
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    6. Camacho-Vanegas O, Till J, Miranda-Lorenzo I, Ozturk B, Camacho SC, Martignetti JA. Shaking the family tree: identification of novel and biologically active alternatively spliced isoforms across the KLF family of transcription factors. FASEB J. 2013 Feb; 27(2):432-6.
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    7. Evans BR, Mosig RA, Lobl M, Martignetti CR, Camacho C, Grum-Tokars V, Glucksman MJ, Martignetti JA. Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. Am J Hum Genet. 2012 Sep 7; 91(3):572-6.
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    8. Mosig RA, Martignetti JA. Loss of MMP-2 in murine osteoblasts upregulates osteopontin and bone sialoprotein expression in a circuit regulating bone homeostasis. Dis Model Mech. 2013 Mar; 6(2):397-403.
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    9. Camacho-Vanegas O, Camacho SC, Till J, Miranda-Lorenzo I, Terzo E, Ramirez MC, Schramm V, Cordovano G, Watts G, Mehta S, Kimonis V, Hoch B, Philibert KD, Raabe CA, Bishop DF, Glucksman MJ, Martignetti JA. Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts. Am J Hum Genet. 2012 Apr 6; 90(4):614-27.
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    10. Calderon MR, Verway M, An BS, DiFeo A, Bismar TA, Ann DK, Martignetti JA, Shalom-Barak T, White JH. Ligand-dependent corepressor (LCoR) recruitment by Kruppel-like factor 6 (KLF6) regulates expression of the cyclin-dependent kinase inhibitor CDKN1A gene. J Biol Chem. 2012 Mar 16; 287(12):8662-74.
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    11. Mosig RA, Lin L, Senturk E, Shah H, Huang F, Schlosshauer P, Cohen S, Fruscio R, Marchini S, D'Incalci M, Sachidanandam R, Dottino P, Martignetti JA. Application of RNA-Seq transcriptome analysis: CD151 is an Invasion/Migration target in all stages of epithelial ovarian cancer. J Ovarian Res. 2012; 5:4.
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    12. Mosig RA, Lobl M, Senturk E, Shah H, Cohen S, Chudin E, Fruscio R, Marchini S, D'Incalci M, Sachidanandam R, Dottino P, Martignetti JA. IGFBP-4 tumor and serum levels are increased across all stages of epithelial ovarian cancer. J Ovarian Res. 2012; 5(1):3.
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    13. Sanborn KB, Mace EM, Rak GD, Difeo A, Martignetti JA, Pecci A, Bussel JB, Favier R, Orange JS. Phosphorylation of the myosin IIA tailpiece regulates single myosin IIA molecule association with lytic granules to promote NK-cell cytotoxicity. Blood. 2011 Nov 24; 118(22):5862-71.
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    14. Agnani D, Camacho-Vanegas O, Camacho C, Lele S, Odunsi K, Cohen S, Dottino P, Martignetti JA. Decreased levels of serum glutathione peroxidase 3 are associated with papillary serous ovarian cancer and disease progression. J Ovarian Res. 2011; 4:18.
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    15. Deuquet J, Lausch E, Guex N, Abrami L, Salvi S, Lakkaraju A, Ramirez MC, Martignetti JA, Rokicki D, Bonafe L, Superti-Furga A, van der Goot FG. Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors. EMBO Mol Med. 2011 Apr; 3(4):208-21.
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    16. Poopak B, Rezvani H, Difeo A, Martignetti JA, Khosravipour G, Yousefian A, Farahani K, Haghnejad Doshanlo F, Saki N. The first report of homozygous May-Hegglin anomaly E1841K mutation. Eur J Haematol. 2011 Apr; 86(4):357.
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    17. Rodríguez E, Aburjania N, Priedigkeit NM, DiFeo A, Martignetti JA. Nucleo-cytoplasmic localization domains regulate Krüppel-like factor 6 (KLF6) protein stability and tumor suppressor function. PLoS One. 2010; 5(9).
      View in: PubMed
    18. Senturk E, Cohen S, Dottino PR, Martignetti JA. A critical re-appraisal of BRCA1 methylation studies in ovarian cancer. Gynecol Oncol. 2010 Nov; 119(2):376-83.
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    19. Radbill BD, Gupta R, Ramirez MC, DiFeo A, Martignetti JA, Alvarez CE, Friedman SL, Narla G, Vrabie R, Bowles R, Saiman Y, Bansal MB. Loss of matrix metalloproteinase-2 amplifies murine toxin-induced liver fibrosis by upregulating collagen I expression. Dig Dis Sci. 2011 Feb; 56(2):406-16.
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    20. DiFeo A, Narla G, Martignetti JA. Emerging roles of Kruppel-like factor 6 and Kruppel-like factor 6 splice variant 1 in ovarian cancer progression and treatment. Mt Sinai J Med. 2009 Dec; 76(6):557-66.
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    21. Rodríguez E, Martignetti JA. The Krüppel traffic report: cooperative signals direct KLF8 nuclear transport. Cell Res. 2009 Sep; 19(9):1041-3.
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    22. Sanborn KB, Rak GD, Maru SY, Demers K, Difeo A, Martignetti JA, Betts MR, Favier R, Banerjee PP, Orange JS. Myosin IIA associates with NK cell lytic granules to enable their interaction with F-actin and function at the immunological synapse. J Immunol. 2009 Jun 1; 182(11):6969-84.
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    23. Difeo A, Huang F, Sangodkar J, Terzo EA, Leake D, Narla G, Martignetti JA. KLF6-SV1 is a novel antiapoptotic protein that targets the BH3-only protein NOXA for degradation and whose inhibition extends survival in an ovarian cancer model. Cancer Res. 2009 Jun 1; 69(11):4733-41.
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    24. Deuquet J, Abrami L, Difeo A, Ramirez MC, Martignetti JA, van der Goot FG. Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum. Hum Mutat. 2009 Apr; 30(4):583-9.
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    25. Sangodkar J, Shi J, DiFeo A, Schwartz R, Bromberg R, Choudhri A, McClinch K, Hatami R, Scheer E, Kremer-Tal S, Martignetti JA, Hui A, Leung WK, Friedman SL, Narla G. Functional role of the KLF6 tumour suppressor gene in gastric cancer. Eur J Cancer. 2009 Mar; 45(4):666-76.
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    26. DiFeo A, Martignetti JA, Narla G. The role of KLF6 and its splice variants in cancer therapy. Drug Resist Updat. 2009 Feb-Apr; 12(1-2):1-7.
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    27. Tuysuz B, Mosig R, Altun G, Sancak S, Glucksman MJ, Martignetti JA. A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects. Eur J Hum Genet. 2009 May; 17(5):565-72.
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    28. Villanueva A, Chiang DY, Newell P, Peix J, Thung S, Alsinet C, Tovar V, Roayaie S, Minguez B, Sole M, Battiston C, Van Laarhoven S, Fiel MI, Di Feo A, Hoshida Y, Yea S, Toffanin S, Ramos A, Martignetti JA, Mazzaferro V, Bruix J, Waxman S, Schwartz M, Meyerson M, Friedman SL, Llovet JM. Pivotal role of mTOR signaling in hepatocellular carcinoma. Gastroenterology. 2008 Dec; 135(6):1972-83, 1983.e1-11.
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    29. Hartel M, Narla G, Wente MN, Giese NA, Martignoni ME, Martignetti JA, Friess H, Friedman SL. Increased alternative splicing of the KLF6 tumour suppressor gene correlates with prognosis and tumour grade in patients with pancreatic cancer. Eur J Cancer. 2008 Sep; 44(13):1895-903.
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    30. Narla G, DiFeo A, Fernandez Y, Dhanasekaran S, Huang F, Sangodkar J, Hod E, Leake D, Friedman SL, Hall SJ, Chinnaiyan AM, Gerald WL, Rubin MA, Martignetti JA. KLF6-SV1 overexpression accelerates human and mouse prostate cancer progression and metastasis. J Clin Invest. 2008 Aug; 118(8):2711-21.
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    31. Schwartz M, Dvorchik I, Roayaie S, Fiel MI, Finkelstein S, Marsh JW, Martignetti JA, Llovet JM. Liver transplantation for hepatocellular carcinoma: extension of indications based on molecular markers. J Hepatol. 2008 Oct; 49(4):581-8.
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    32. Yea S, Narla G, Zhao X, Garg R, Tal-Kremer S, Hod E, Villanueva A, Loke J, Tarocchi M, Akita K, Shirasawa S, Sasazuki T, Martignetti JA, Llovet JM, Friedman SL. Ras promotes growth by alternative splicing-mediated inactivation of the KLF6 tumor suppressor in hepatocellular carcinoma. Gastroenterology. 2008 May; 134(5):1521-31.
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    33. DiFeo A, Feld L, Rodriguez E, Wang C, Beer DG, Martignetti JA, Narla G. A functional role for KLF6-SV1 in lung adenocarcinoma prognosis and chemotherapy response. Cancer Res. 2008 Feb 15; 68(4):965-70.
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    34. Lindvall LE, Kormeili T, Chen E, Ramirez MC, Grum-Tokars V, Glucksman MJ, Martignetti JA, Zaragoza MV, Dyson SW. Infantile systemic hyalinosis: Case report and review of the literature. J Am Acad Dermatol. 2008 Feb; 58(2):303-7.
      View in: PubMed
    35. Teixeira MS, Camacho-Vanegas O, Fernandez Y, Narla G, DiFeo A, Lee B, Kalir T, Friedman SL, Schlecht NF, Genden EM, Urken M, Brandwein-Gensler M, Martignetti JA. KLF6 allelic loss is associated with tumor recurrence and markedly decreased survival in head and neck squamous cell carcinoma. Int J Cancer. 2007 Nov 1; 121(9):1976-83.
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    36. Camacho-Vanegas O, Narla G, Teixeira MS, DiFeo A, Misra A, Singh G, Chan AM, Friedman SL, Feuerstein BG, Martignetti JA. Functional inactivation of the KLF6 tumor suppressor gene by loss of heterozygosity and increased alternative splicing in glioblastoma. Int J Cancer. 2007 Sep 15; 121(6):1390-5.
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    37. Phadke SR, Ramirez M, Difeo A, Martignetti JA, Girisha KM. Torg-Winchester syndrome: lack of efficacy of pamidronate therapy. Clin Dysmorphol. 2007 Apr; 16(2):95-100.
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    38. Mosig RA, Dowling O, DiFeo A, Ramirez MC, Parker IC, Abe E, Diouri J, Aqeel AA, Wylie JD, Oblander SA, Madri J, Bianco P, Apte SS, Zaidi M, Doty SB, Majeska RJ, Schaffler MB, Martignetti JA. Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth. Hum Mol Genet. 2007 May 1; 16(9):1113-23.
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    39. Antaya RJ, Cajaiba MM, Madri J, Lopez MA, Ramirez MC, Martignetti JA, Reyes-Múgica M. Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene. Am J Dermatopathol. 2007 Feb; 29(1):99-103.
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    40. Kremer-Tal S, Narla G, Chen Y, Hod E, DiFeo A, Yea S, Lee JS, Schwartz M, Thung SN, Fiel IM, Banck M, Zimran E, Thorgeirsson SS, Mazzaferro V, Bruix J, Martignetti JA, Llovet JM, Friedman SL. Downregulation of KLF6 is an early event in hepatocarcinogenesis, and stimulates proliferation while reducing differentiation. J Hepatol. 2007 Apr; 46(4):645-54.
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    41. Shieh JT, Swidler P, Martignetti JA, Ramirez MC, Balboni I, Kaplan J, Kennedy J, Abdul-Rahman O, Enns GM, Sandborg C, Slavotinek A, Hoyme HE. Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2). Pediatrics. 2006 Nov; 118(5):e1485-92.
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    42. Utsch B, DiFeo A, Kujat A, Karle S, Schuster V, Lenk H, Jacobs U, Müller M, Dötsch J, Rascher W, Reutter H, Martignetti JA, Ludwig M, Tröbs RB. Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? Am J Med Genet A. 2006 Oct 15; 140(20):2251-3.
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    43. DiFeo A, Narla G, Hirshfeld J, Camacho-Vanegas O, Narla J, Rose SL, Kalir T, Yao S, Levine A, Birrer MJ, Bonome T, Friedman SL, Buller RE, Martignetti JA. Roles of KLF6 and KLF6-SV1 in ovarian cancer progression and intraperitoneal dissemination. Clin Cancer Res. 2006 Jun 15; 12(12):3730-9.
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    44. DiFeo A, Narla G, Camacho-Vanegas O, Nishio H, Rose SL, Buller RE, Friedman SL, Walsh MJ, Martignetti JA. E-cadherin is a novel transcriptional target of the KLF6 tumor suppressor. Oncogene. 2006 Sep 28; 25(44):6026-31.
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    45. Park JH, Eliyahu E, Narla G, DiFeo A, Martignetti JA, Schuchman EH. KLF6 is one transcription factor involved in regulating acid ceramidase gene expression. Biochim Biophys Acta. 2005 Dec 30; 1732(1-3):82-7.
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    46. Li D, Yea S, Dolios G, Martignetti JA, Narla G, Wang R, Walsh MJ, Friedman SL. Regulation of Kruppel-like factor 6 tumor suppressor activity by acetylation. Cancer Res. 2005 Oct 15; 65(20):9216-25.
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    47. Kirschenbaum A, Liu XH, Yao S, Narla G, Friedman SL, Martignetti JA, Levine AC. Sex steroids have differential effects on growth and gene expression in primary human prostatic epithelial cell cultures derived from the peripheral versus transition zones. Carcinogenesis. 2006 Feb; 27(2):216-24.
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    48. Narla G, DiFeo A, Yao S, Banno A, Hod E, Reeves HL, Qiao RF, Camacho-Vanegas O, Levine A, Kirschenbaum A, Chan AM, Friedman SL, Martignetti JA. Targeted inhibition of the KLF6 splice variant, KLF6 SV1, suppresses prostate cancer cell growth and spread. Cancer Res. 2005 Jul 1; 65(13):5761-8.
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    49. Teng MS, Brandwein-Gensler MS, Teixeira MS, Martignetti JA, Duffey DC. A study of TRAIL receptors in squamous cell carcinoma of the head and neck. Arch Otolaryngol Head Neck Surg. 2005 May; 131(5):407-12.
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    50. Narla G, Difeo A, Reeves HL, Schaid DJ, Hirshfeld J, Hod E, Katz A, Isaacs WB, Hebbring S, Komiya A, McDonnell SK, Wiley KE, Jacobsen SJ, Isaacs SD, Walsh PC, Zheng SL, Chang BL, Friedrichsen DM, Stanford JL, Ostrander EA, Chinnaiyan AM, Rubin MA, Xu J, Thibodeau SN, Friedman SL, Martignetti JA. A germline DNA polymorphism enhances alternative splicing of the KLF6 tumor suppressor gene and is associated with increased prostate cancer risk. Cancer Res. 2005 Feb 15; 65(4):1213-22.
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    51. Kremer-Tal S, Reeves HL, Narla G, Thung SN, Schwartz M, Difeo A, Katz A, Bruix J, Bioulac-Sage P, Martignetti JA, Friedman SL. Frequent inactivation of the tumor suppressor Kruppel-like factor 6 (KLF6) in hepatocellular carcinoma. Hepatology. 2004 Nov; 40(5):1047-52.
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    52. Kimmelman AC, Qiao RF, Narla G, Banno A, Lau N, Bos PD, Nuñez Rodriguez N, Liang BC, Guha A, Martignetti JA, Friedman SL, Chan AM. Suppression of glioblastoma tumorigenicity by the Kruppel-like transcription factor KLF6. Oncogene. 2004 Jun 24; 23(29):5077-83.
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    53. Reeves HL, Narla G, Ogunbiyi O, Haq AI, Katz A, Benzeno S, Hod E, Harpaz N, Goldberg S, Tal-Kremer S, Eng FJ, Arthur MJ, Martignetti JA, Friedman SL. Kruppel-like factor 6 (KLF6) is a tumor-suppressor gene frequently inactivated in colorectal cancer. Gastroenterology. 2004 Apr; 126(4):1090-103.
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    54. Toren A, Rozenfeld-Granot G, Heath KE, Amariglio N, Rocca B, Crosson J, Epstein CJ, Laghi F, Landolfi R, Carlsson LE, Argraves S, Bizzaro N, Moxey-Mims M, Brok-Simoni F, Martignetti JA, Greinacher A, Rechavi G. MYH9 spectrum of autosomal-dominant giant platelet syndromes: unexpected association with fibulin-1 variant-D inactivation. Am J Hematol. 2003 Dec; 74(4):254-62.
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    55. Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, Kayserili H, Yuksel-Apak M, Paller AS, Norton K, Teebi AS, Grum-Tokars V, Martin GS, Davis GE, Glucksman MJ, Martignetti JA. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet. 2003 Oct; 73(4):957-66.
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    56. Zhang C, Xie Y, Martignetti JA, Yeo TT, Massa SM, Longo FM. A candidate chimeric mammalian mRNA transcript is derived from distinct chromosomes and is associated with nonconsensus splice junction motifs. DNA Cell Biol. 2003 May; 22(5):303-15.
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    57. Narla G, Friedman SL, Martignetti JA. Krüppel cripples prostate cancer: KLF6 progress and prospects. Am J Pathol. 2003 Apr; 162(4):1047-52.
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    58. Martignetti J. Five (un)easy pieces: the MYH9-related giant platelet syndromes. Haematologica. 2002 Sep; 87(9):897-8.
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    59. Narla G, Heath KE, Reeves HL, Li D, Giono LE, Kimmelman AC, Glucksman MJ, Narla J, Eng FJ, Chan AM, Ferrari AC, Martignetti JA, Friedman SL. KLF6, a candidate tumor suppressor gene mutated in prostate cancer. Science. 2001 Dec 21; 294(5551):2563-6.
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    60. Heath KE, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson LE, Savige J, Denison JC, Gregory MC, White JG, Barker DF, Greinacher A, Epstein CJ, Glucksman MJ, Martignetti JA. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet. 2001 Nov; 69(5):1033-45.
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    61. Martignetti JA, Aqeel AA, Sewairi WA, Boumah CE, Kambouris M, Mayouf SA, Sheth KV, Eid WA, Dowling O, Harris J, Glucksman MJ, Bahabri S, Meyer BF, Desnick RJ. Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. Nat Genet. 2001 Jul; 28(3):261-5.
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    62. Tullai JW, Cummins PM, Pabon A, Roberts JL, Lopingco MC, Shrimpton CN, Smith AI, Martignetti JA, Ferro ES, Glucksman MJ. The neuropeptide processing enzyme EC 3.4.24.15 is modulated by protein kinase A phosphorylation. J Biol Chem. 2000 Nov 24; 275(47):36514-22.
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    63. Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet. 2000 Sep; 26(1):103-5.
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    64. Al Aqeel A, Al Sewairi W, Edress B, Gorlin RJ, Desnick RJ, Martignetti JA. Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family. Am J Med Genet. 2000 Jul 3; 93(1):11-8.
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    65. Martignetti JA, Heath KE, Harris J, Bizzaro N, Savoia A, Balduini CL, Desnick RJ. The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1. Am J Hum Genet. 2000 Apr; 66(4):1449-54.
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    66. Yang T, Martignetti JA, Massa SM, Longo FM. Leukocyte common-antigen-related tyrosine phosphatase receptor: altered expression of mRNA and protein in the New England Deaconess Hospital rat line exhibiting spontaneous pheochromocytoma. Carcinogenesis. 2000 Feb; 21(2):125-31.
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    67. Martignetti JA, Gelb BD, Pierce H, Picci P, Desnick RJ. Malignant fibrous histiocytoma: inherited and sporadic forms have loss of heterozygosity at chromosome bands 9p21-22-evidence for a common genetic defect. Genes Chromosomes Cancer. 2000 Feb; 27(2):191-5.
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    68. Wasserstein MP, Martignetti JA, Zeitlin R, Lumerman H, Solomon M, Grace ME, Desnick RJ. Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation. Am J Med Genet. 1999 Jun 4; 84(4):334-9.
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    69. Martignetti JA, Desnick RJ, Aliprandis E, Norton KI, Hardcastle P, Nade S, Gelb BD. Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22. Am J Hum Genet. 1999 Mar; 64(3):801-7.
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    70. Aliprandis E, Harris J, Yoo B, Gelb BD, Martignetti JA. Isolation, characterization, and mapping of four novel polymorphic markers and an H3.3B pseudogene to chromosome 9p21-22. J Hum Genet. 1999; 44(5):348-9.
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    71. Basile V, Vicente A, Martignetti JA, Skryabin BV, Brosius J, Kennedy JL. Assignment of the human BC200 RNA gene (BCYRN1) to chromosome 2p16 by radiation hybrid mapping. Cytogenet Cell Genet. 1998; 82(3-4):271-2.
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    72. Gelb BD, Moissoglu K, Zhang J, Martignetti JA, Brömme D, Desnick RJ. Cathepsin K: isolation and characterization of the murine cDNA and genomic sequence, the homologue of the human pycnodysostosis gene. Biochem Mol Med. 1996 Dec; 59(2):200-6.
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    73. Norton KI, Wagreich JM, Granowetter L, Martignetti JA. Diaphyseal medullary stenosis (sclerosis) with bone malignancy (malignant fibrous histiocytoma): Hardcastle syndrome. Pediatr Radiol. 1996 Sep; 26(9):675-7.
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    74. Martignetti JA, Brosius J. BC1 RNA: transcriptional analysis of a neural cell-specific RNA polymerase III transcript. Mol Cell Biol. 1995 Mar; 15(3):1642-50.
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    75. Kim J, Martignetti JA, Shen MR, Brosius J, Deininger P. Rodent BC1 RNA gene as a master gene for ID element amplification. Proc Natl Acad Sci U S A. 1994 Apr 26; 91(9):3607-11.
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    76. Longo FM, Martignetti JA, Le Beau JM, Zhang JS, Barnes JP, Brosius J. Leukocyte common antigen-related receptor-linked tyrosine phosphatase. Regulation of mRNA expression. J Biol Chem. 1993 Dec 15; 268(35):26503-11.
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    77. Martignetti JA, Brosius J. BC200 RNA: a neural RNA polymerase III product encoded by a monomeric Alu element. Proc Natl Acad Sci U S A. 1993 Dec 15; 90(24):11563-7.
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    78. Martignetti JA, Brosius J. Neural BC1 RNA as an evolutionary marker: guinea pig remains a rodent. Proc Natl Acad Sci U S A. 1993 Oct 15; 90(20):9698-702.
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    79. Kennedy JL, Honer WG, Kaufmann CA, Martignetti JA, Brosius J, Kidd KK. Two RFLPs near HOX2@/NGFR at locus D17S444E. Nucleic Acids Res. 1992 Mar 11; 20(5):1171.
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    80. Martignetti JA, Barrell BG. Sequence of the HindIII T fragment of human cytomegalovirus, which encodes a DNA helicase. J Gen Virol. 1991 May; 72 ( Pt 5):1113-21.
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    81. Bankier AT, Beck S, Bohni R, Brown CM, Cerny R, Chee MS, Hutchison CA, Kouzarides T, Martignetti JA, Preddie E, et al. The DNA sequence of the human cytomegalovirus genome. DNA Seq. 1991; 2(1):1-12.
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    82. Chee MS, Bankier AT, Beck S, Bohni R, Brown CM, Cerny R, Horsnell T, Hutchison CA, Kouzarides T, Martignetti JA, et al. Analysis of the protein-coding content of the sequence of human cytomegalovirus strain AD169. Curr Top Microbiol Immunol. 1990; 154:125-69.
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