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Giampero (john) A Martignetti, MD, PhD
Pediatrics
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About Me
Language
Position
Hospital Affiliations
- The Mount Sinai Hospital
Research Topics
Cancer Genetics, Gene Discovery, Genomics, Molecular Biology, Tumor Suppressor Genes
Multi-Disciplinary Training Areas
Cancer Biology [CAB], Disease Mechanisms and Therapeutics (DMT), Genetics and Genomic Sciences [GGS]
About Me
Language
Position
Hospital Affiliations
- The Mount Sinai Hospital
Research Topics
Cancer Genetics, Gene Discovery, Genomics, Molecular Biology, Tumor Suppressor Genes
Multi-Disciplinary Training Areas
Cancer Biology [CAB], Disease Mechanisms and Therapeutics (DMT), Genetics and Genomic Sciences [GGS]
Education
BA, Columbia College
MPhil, Cambridge University
MD, PhD, Mount Sinai School of Medicine
MD, Icahn School of Medicine at Mount Sinai
Residency, Pediatrics
Mount Sinai Hospital
Certifications
American Board of Pediatrics
Research
Two examples of current studies are provided. We first characterized and described with colleagues a severe osteolysis and arthritis syndrome [Am J Med Genet. 93:11-18; 2000]. Using a positional cloning strategy, we then localized and identified that the disease was caused by inactivating mutations in the matrix metalloproteinase 2 gene (MMP-2); the first identified MMP deficiency [Nat Genet 28:261-5; 2001]. Counterintuitively, MMP-2 is a member of the matrix metalloproteinase family of proteolytic enzymes which degrade the extracellular matrix (ECM) during tissue remodeling and are involved in various critical cellular processes including cell migration, proliferation, and apoptosis. The overall goal of current ongoing patient, mouse model and biochemical studies is to resolve the apparent paradox created by our original findings in affected individuals: "How does functional loss of a single proteolytic enzyme result in increased bone loss and joint destruction".
A second example is provided by studies in human cancer. We originally demonstrated, in collaboration with Dr. Scott Friedman's laboratory, that KLF6, a member of the Kruppel-like family of zinc finger transcription factors which regulate growth-related signal transduction pathways, mediates growth suppression by a p53-independent, upregulation of p21 and is a tumor suppressor gene [Science 294:2563-6; 2001; Am J Pathol 162:1047-52; 2003]. We have now further demonstrated loss or inactivation of KLF6 in a number of major human cancers including ovarian cancer [Clin Cancer Res. 12:3730-9; 2006], colorectal cancer [Gastroenterology 126:1090-103; 2004], hepatocellular carcinoma [Hepatology. 40:1047-52; 2004], head and neck squamous cell carcinoma [In Press, 2007], and malignant glioma [In Press, 2007].
Beyond this, we recently demonstrated in a multicenter, prostate cancer study of greater than 3,400 men that a prevalent KLF6 germline single nucleotide polymorphism (SNP) is associated with an increased lifetime cancer risk [Cancer Res. 65:1213-22; 2005]. The SNP results in the increased transcription of an alternatively spliced, biologically active KLF6 isoform [Cancer Res. 65:5761-8; 2005]. We are now investigating the co-opted, critical pro-survival functions of KLF6-SV1 in patient samples and genetically engineered tumor cells and mouse and drosophila models and exploring the role of targeted KLF6-SV1 silencing as a potential therapeutic agent in human cancers.
Locations
Insurance Information
Accepted insurance may vary by the doctor’s office location. Please contact the office directly to obtain the most up-to-date insurance information.
Patients with Healthfirst Medicare Advantage insurance: Effective , Mount Sinai’s primary care providers (internal medicine, family practice, and geriatrics) are not accepting new Healthfirst Medicare patients. Please contact Healthfirst for help finding a primary care provider. Healthfirst Medicare members who have a relationship with a Mount Sinai primary care provider can continue to book appointments with them.
Physicians who provide services at hospitals and facilities in the Mount Sinai Health System might not participate in the same health plans as those Mount Sinai hospitals and facilities (even if the physicians are employed or contracted by those hospitals or facilities).
Information regarding insurance participation and billing by this physician may be found on this page, and can also be obtained by contacting this provider directly. Because physicians insurance participation can change, the insurance information on this page may not always be up-to-date. Please contact this physician directly to obtain the most up-to-date insurance information.
Insurance and health plan networks that the various Mount Sinai Health System hospitals and facilities participate in can be found on the Mount Sinai Health System website.
Industry Relationships
Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device, biotechnology companies, and other outside entities to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their outside financial relationships.
Below are financial relationships with industry reported by Dr. Martignetti during 2023 and/or 2024. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.
Consulting or Other Professional Services Examples include, but are not limited to, committee participation, data safety monitoring board (DSMB) membership
- Nuvance Health
Equity (Stock or stock options valued at greater than 5% ownership of a publicly traded company or equity of any value in a privately held company)
- MDDx, Inc
Founder/Co-Founder/Partner
- MDDx, Inc
Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.
Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device, biotechnology companies, and other outside entities to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their outside financial relationships.
Below are financial relationships with industry reported by Dr. Martignetti during 2023 and/or 2024. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.
Consulting or Other Professional Services Examples include, but are not limited to, committee participation, data safety monitoring board (DSMB) membership
- Nuvance Health
Equity (Stock or stock options valued at greater than 5% ownership of a publicly traded company or equity of any value in a privately held company)
- MDDx, Inc
Founder/Co-Founder/Partner
- MDDx, Inc
Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.