Patents by Inventor John Martignetti
John Martignetti has filed for patents to protect the following inventions. This listing includes patent applications that are pending as well as patents that have already been granted by the United States Patent and Trademark Office (USPTO).
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Patent number: 10155995Abstract: This invention relates to a method of diagnosing a subject as having and/or being a carrier for infantile myofibromatosis. This method involves providing an isolated biological sample from a subject; contacting the sample with one or more reagents suitable for detecting the presence or absence of one or more mutations in PDGFRB and/or NOTCH3; detecting, in the sample, the presence or absence of the one or more mutations in PDGFRB and/or NOTCH3 based on said contacting; and diagnosing the subject as having and/or being a carrier for infantile myofibromatosis based on said detecting, where the presence of the one or more mutations in PDGFRB and/or NOTCH3 indicates the subject has a mutation that causes infantile myofibromatosis. Also disclosed is a method of treating a subject having infantile myofibromatosis and a method of preventing or treating symptoms associated with infantile myofibromatosis.Type: GrantFiled: October 20, 2017Date of Patent: December 18, 2018Assignees: ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI, THE CHILDREN'S HOSPITAL OF PHILADELPHIAInventors: John A. Martignetti, Hakon Hakonarson, Lifeng Tian
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Publication number: 20180223373Abstract: This invention relates to a method of diagnosing a subject as having and/or being a carrier for infantile myofibromatosis. This method involves providing an isolated biological sample from a subject; contacting the sample with one or more reagents suitable for detecting the presence or absence of one or more mutations in PDGFRB and/or NOTCH3; detecting, in the sample, the presence or absence of the one or more mutations in PDGFRB and/or NOTCH3 based on said contacting; and diagnosing the subject as having and/or being a carrier for infantile myofibromatosis based on said detecting, where the presence of the one or more mutations in PDGFRB and/or NOTCH3 indicates the subject has a mutation that causes infantile myofibromatosis. Also disclosed is a method of treating a subject having infantile myofibromatosis and a method of preventing or treating symptoms associated with infantile myofibromatosis.Type: ApplicationFiled: October 20, 2017Publication date: August 9, 2018Applicants: ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI, THE CHILDREN'S HOSPITAL OF PHILADELPHIAInventors: John A. MARTIGNETTI, Hakon HAKONARSON, Lifeng TIAN
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Patent number: 9822418Abstract: This invention relates to a method of diagnosing a subject as having and/or being a carrier for infantile myofibromatosis. This method involves providing an isolated biological sample from a subject; contacting the sample with one or more reagents suitable for detecting the presence or absence of one or more mutations in PDGFRB and/or NOTCH3; detecting, in the sample, the presence or absence of the one or more mutations in PDGFRB and/or NOTCH3 based on said contacting; and diagnosing the subject as having and/or being a carrier for infantile myofibromatosis based on said detecting, where the presence of the one or more mutations in PDGFRB and/or NOTCH3 indicates the subject has a mutation that causes infantile myofibromatosis. Also disclosed is a method of treating a subject having infantile myofibromatosis and a method of preventing or treating symptoms associated with infantile myofibromatosis.Type: GrantFiled: April 22, 2014Date of Patent: November 21, 2017Assignees: ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI, THE CHILDREN'S HOSPITAL OF PHILADELPHIAInventors: John A. Martignetti, Hakon Hakonarson, Lifeng Tian
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Publication number: 20130254908Abstract: MO-1 is a newly identified gene and gene product associated with morbid obesity. Isolated MO-1 nucleic acids, MO-1 polypeptides, oligonucleotides that hybridize to MO-1 nucleic acids, and vectors, including expression vectors, comprising MO-1 nucleic acids are disclosed, as are isolated host cells, antibodies, transgenic non-human animals, compositions, and kits relating to MO-1. Methods of detecting the presence of MO-1 nucleic acid, methods of screening for agents which affect MO-1 activity, and methods of screening for MO-1 variants are also disclosed.Type: ApplicationFiled: October 12, 2012Publication date: September 26, 2013Applicant: MOUNT SINAI SCHOOL OF MEDICINEInventors: Adel Shalata, John Martignetti, Robert Desnick
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Publication number: 20130035243Abstract: Disclosed are methods of identifying and diagnosing certain types of cancers and pre-stages thereof in a patient by identifying alternatively spliced isoforms of wild type KLF6 (KLF6wt), in particular any one of the isoforms selected from the group consisting of: KLF6 splice variant-1 (KLF6SV1), KLF6 splice variant-2 (KLF6SV2), and KLF6 splice variant-3 (KLF6SV3). Also disclosed are methods for diagnosing cancer using the polypeptides and polynucleotides identified herein, as well as methods of treating certain types of cancers by inhibiting polynucleotides and polypeptides identified herein.Type: ApplicationFiled: June 21, 2012Publication date: February 7, 2013Applicant: MOUNT SINAI SCHOOL OF MEDICINE OF NEW YORK UNIVERSITYInventors: John Martignetti, Goutham Narla, Scott Friedman
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Publication number: 20110059899Abstract: The present invention relates to identification of tumor suppressor activity of a protein, KLF6 (KLF6), and to related diagnostic and therapeutic compositions and methods. The discovery of this tumor suppressor activity provides screening targets as well, particularly screening for compounds that overcome gene inactivation or alteration.Type: ApplicationFiled: April 28, 2010Publication date: March 10, 2011Applicant: Mount Sinai School of Medicine of New York UniversityInventors: Scott Friedman, Dan Li, Goutham Narla, John Martignetti, Karen Heath
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Publication number: 20100077496Abstract: MO-1 is a newly identified gene and gene product associated with morbid obesity. Isolated MO-1 nucleic acids, MO-1 polypeptides, oligonucleotides that hybridize to MO-1 nucleic adds, and vectors, including expression vectors, comprising MO-1 nucleic acids are disclosed, as are isolated host cells, antibodies, transgenic non-human animals, compositions, and kits relating to MO-1. Methods of detecting the presence of MO-1 nucleic acid, screening for agents which affect MO-1 activity, and screening for MO-1 variants are also disclosed.Type: ApplicationFiled: April 21, 2008Publication date: March 25, 2010Applicant: Mt. Sinai School of MedicineInventors: Adel Shalata, JOHN Martignetti, Robert Desnick
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Publication number: 20090325150Abstract: Disclosed are methods of identifying and diagnosing certain types of cancers and pre-stages thereof in a patient by identifying alternatively spliced isoforms of wild type KLF6 (KLFwt), in particular anyone of the isoforms selected from the group consisting of: KLF6 splice variant-1 (KLF6SV1), KLF6 splice variant-2 (KLF6SV2), and KLF6 splice variant-3 (KLF6SV3). Also disclosed are methods diagnosing cancer using the polypeptides and polynucleotides identified herein, as well as methods of treating certain types of cancers by inhibiting polynucleotides and polypeptides identified herein.Type: ApplicationFiled: August 1, 2005Publication date: December 31, 2009Applicant: MOUNT SINAI SCHOOL OF MEDICINE OF NEW YORK UNIVERSITYInventors: John Martignetti, Goutham Narla, Scott Friedman
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Publication number: 20090317823Abstract: Mutations and polymorphisms in a particular gene, the capillary morphogenesis gene-2 (CMG-2) have been identified. The mutations have been associated with infantile systemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF), as well as conditions associated with these disorders. Described herein are variant CMG-2 nucleic acids and variant CMG-2 polypeptides; cells comprising such variant CMG-2 nucleic acids and/or expressing variant CMG-2 polypeptides; and methods of diagnosing and treating such disorders and conditions. Variant CMG-2 proteins include those comprising one or more of E220X, G105D, L329, P257insC, I189T, A357P, and A322S. Variant CMG-2 nucleic acids include those encoding these mutant CMG-2 proteins, as well as silent mutations or polymorphisms.Type: ApplicationFiled: August 7, 2009Publication date: December 24, 2009Applicant: Mount Sinai School of Medicine of New York UniversityInventors: John Martignetti, Oonagh Dowling
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Publication number: 20050221336Abstract: Mutations and polymorphisms in a particular gene, the capillary morphogenesis gene-2 (CMG-2) have been identified. The mutations have been associated with infantile systemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF), as well as conditions associated with these disorders. Described herein are variant CMG-2 nucleic acids and variant CMG-2 polypeptides; cells comprising such variant CMG-2 nucleic acids and/or expressing variant CMG-2 polypeptides; and methods of diagnosing and treating such disorders and conditions. Variant CMG-2 proteins include those comprising one or more of E220X, G105D, L329, P257insC, 1189T, A357P, and A322S. Variant CMG-2 nucleic acids include those encoding these mutant CMG-2 proteins, as well as silent mutations or polymorphisms.Type: ApplicationFiled: September 9, 2004Publication date: October 6, 2005Applicant: Mount Sinai School of Medicine of New York UniversityInventors: John Martignetti, Oonagh Dowling
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Publication number: 20050181374Abstract: The present invention relates to identification of tumor suppressor activity of a protein, KLF6 (KLF6), and to related diagnostic and therapeutic compositions and methods. The discovery of this tumor suppressor activity provides screening targets as well, particularly screening for compounds that overcome gene inactivation or alteration.Type: ApplicationFiled: January 5, 2004Publication date: August 18, 2005Applicant: Mount Sinai School of Medicine of New York UniversityInventors: Scott Friedman, Dan Li, Goutham Narla, John Martignetti, Karen Heath
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Publication number: 20030087863Abstract: The present invention relates to a method for the prevention or treatment of a disease mediated by decreased MMP-2 function. This may result from an aberrant interaction of molecules that stimulate or inhibit MMP-2 protein synthesis, stability, or function, as well as from mutations in the coding or regulatory regions of the gene encoding MMP-2. The invention also provides a method for identifying a substance useful in this context. It further contemplates a method for diagnosing such a disease.Type: ApplicationFiled: June 28, 2002Publication date: May 8, 2003Applicant: Mount Sinai School of MedicineInventors: John A. Martignetti, Robert J. Desnick