John Martignetti

Summary

Affiliation: Mount Sinai School of Medicine
Country: USA

Publications

  1. pmc Decreased levels of serum glutathione peroxidase 3 are associated with papillary serous ovarian cancer and disease progression
    Deep Agnani
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
    J Ovarian Res 4:18. 2011
  2. pmc Loss of MMP-2 in murine osteoblasts upregulates osteopontin and bone sialoprotein expression in a circuit regulating bone homeostasis
    Rebecca A Mosig
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
    Dis Model Mech 6:397-403. 2013
  3. pmc Nucleo-cytoplasmic localization domains regulate Krüppel-like factor 6 (KLF6) protein stability and tumor suppressor function
    Estefania Rodriguez
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, United States of America
    PLoS ONE 5:. 2010
  4. pmc Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis
    John A Martignetti
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA Department of Oncological Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA Electronic address
    Am J Hum Genet 92:1001-7. 2013
  5. doi request reprint Shaking the family tree: identification of novel and biologically active alternatively spliced isoforms across the KLF family of transcription factors
    Olga Camacho-Vanegas
    Department of Genetics and Genomic Sciences, Mt Sinai School of Medicine, New York, NY 10029, USA
    FASEB J 27:432-6. 2013
  6. pmc Application of RNA-Seq transcriptome analysis: CD151 is an Invasion/Migration target in all stages of epithelial ovarian cancer
    Rebecca A Mosig
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA
    J Ovarian Res 5:4. 2012
  7. pmc IGFBP-4 tumor and serum levels are increased across all stages of epithelial ovarian cancer
    Rebecca A Mosig
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA
    J Ovarian Res 5:3. 2012
  8. ncbi request reprint Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome
    J A Martignetti
    Department of Human Genetics, Mount Sinai School of Medicine, Box 1498, Fifth Avenue at 100th Street, New York, New York, USA
    Nat Genet 28:261-5. 2001
  9. pmc Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth
    Rebecca A Mosig
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
    Hum Mol Genet 16:1113-23. 2007
  10. ncbi request reprint Torg-Winchester syndrome: lack of efficacy of pamidronate therapy
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Clin Dysmorphol 16:95-100. 2007

Research Grants

Collaborators

  • Shubha R Phadke
  • Rebecca A Mosig
  • Olga Camacho-Vanegas
  • Peter Dottino
  • Samantha Cohen
  • Analisa Difeo
  • Robert Fruscio
  • Sergio Marchini
  • Hardik Shah
  • Maurizio D'Incalci
  • Ravi Sachidanandam
  • Emir Senturk
  • Oonagh Dowling
  • Deep Agnani
  • Estefania Rodriguez
  • Irene Miranda-Lorenzo
  • Berrin Ozturk
  • Jacob Till
  • Sandra Catalina Camacho
  • Mollie Lobl
  • Fei Huang
  • Eugene Chudin
  • Peter Schlosshauer
  • Li Lin
  • Catalina Camacho
  • Shashi Lele
  • Kunle Odunsi
  • Nolan M Priedigkeit
  • Nana Aburjania
  • Etsuko Abe
  • James D Wylie
  • Joseph Madri
  • Mitchell B Schaffler
  • Paolo Bianco
  • Stephen B Doty
  • Robert J Majeska
  • Janane Diouri
  • Ian C Parker
  • Samantha A Oblander
  • Aida Al Aqeel
  • Mone Zaidi
  • Suneel S Apte
  • Maria Celeste M Ramirez
  • Hulya Kayserili
  • Valerie Grum-Tokars
  • Karen Norton
  • Goutham Narla
  • George E Davis
  • Maria C Ramirez
  • Ahmad S Teebi
  • Luisa Bonafe
  • Memnune Yuksel-Apak
  • Gail S Martin
  • Marc J Glucksman
  • Turgut Tukel
  • Amy S Paller

Detail Information

Publications11

  1. pmc Decreased levels of serum glutathione peroxidase 3 are associated with papillary serous ovarian cancer and disease progression
    Deep Agnani
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
    J Ovarian Res 4:18. 2011
    ....
  2. pmc Loss of MMP-2 in murine osteoblasts upregulates osteopontin and bone sialoprotein expression in a circuit regulating bone homeostasis
    Rebecca A Mosig
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
    Dis Model Mech 6:397-403. 2013
    ..Identification of this newly defined circuitry provides insight into the potential molecular landscape underlying the MOA phenotype and highlights a pathway that might play a role in normal bone homeostasis...
  3. pmc Nucleo-cytoplasmic localization domains regulate Krüppel-like factor 6 (KLF6) protein stability and tumor suppressor function
    Estefania Rodriguez
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, United States of America
    PLoS ONE 5:. 2010
    ..It has been hypothesized that this NLS is a functional domain critical to direct the distinct subcellular localization of the tumor suppressor and its splice variant...
  4. pmc Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis
    John A Martignetti
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA Department of Oncological Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA Electronic address
    Am J Hum Genet 92:1001-7. 2013
    ....
  5. doi request reprint Shaking the family tree: identification of novel and biologically active alternatively spliced isoforms across the KLF family of transcription factors
    Olga Camacho-Vanegas
    Department of Genetics and Genomic Sciences, Mt Sinai School of Medicine, New York, NY 10029, USA
    FASEB J 27:432-6. 2013
    ..In essence, knowing that these KLF isoforms exist provides the first step toward understanding the roles of these genes in human health and disease...
  6. pmc Application of RNA-Seq transcriptome analysis: CD151 is an Invasion/Migration target in all stages of epithelial ovarian cancer
    Rebecca A Mosig
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA
    J Ovarian Res 5:4. 2012
    ..Using this technique we sought to identify novel candidate therapeutic targets expressed in epithelial ovarian cancer (EOC)...
  7. pmc IGFBP-4 tumor and serum levels are increased across all stages of epithelial ovarian cancer
    Rebecca A Mosig
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA
    J Ovarian Res 5:3. 2012
    ..Based on RNA-Seq transcriptome analysis of patient-derived tumors, highly expressed secreted proteins were identified using a bioinformatic approach...
  8. ncbi request reprint Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome
    J A Martignetti
    Department of Human Genetics, Mount Sinai School of Medicine, Box 1498, Fifth Avenue at 100th Street, New York, New York, USA
    Nat Genet 28:261-5. 2001
    ..Based on molecular modeling, the missense mutation disrupts hydrogen bond formation within the highly conserved prodomain adjacent to the catalytic zinc ion...
  9. pmc Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth
    Rebecca A Mosig
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
    Hum Mol Genet 16:1113-23. 2007
    ..Thus, Mmp2-/- mice provide a valuable biological resource for studying the pathophysiological mechanisms underlying the human disease and defining the in vivo physiological role of MMP-2...
  10. ncbi request reprint Torg-Winchester syndrome: lack of efficacy of pamidronate therapy
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Clin Dysmorphol 16:95-100. 2007
    ..We conclude that pamidronate does not improve peripheral osteolysis in multicentric osteolysis and nodular arthropathy caused by mutation in matrix metalloproteinase 2 gene...
  11. pmc Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis
    Oonagh Dowling
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Am J Hum Genet 73:957-66. 2003
    ....

Research Grants2

  1. GENETIC DISSECTION OF A BONE DYSPLASIA/CANCER SYNDROME
    John Martignetti; Fiscal Year: 2002
    This application is designed to provide Dr. John Martignetti a program of mentored laboratory research to facilitate his development as an independent physician-scientist...
  2. Association of 7q22..1 gene VGF with obesity & leanness
    John Martignetti; Fiscal Year: 2008
    ..These physiologically linked, target-tissue genes may themselves play a functional role in obesity resistance or susceptibility, and thus become excellent candidates for future investigation. ..