Search Patents
  • Neurofibromatosis gene
    Patent number: 5859195
    Abstract: The entire coding region of the gene involved in von Recklinghausen neurofibromatosis (NF1) and a ubiquitously expressed large transcript (NF1LT) of the gene have been identified, cloned and sequenced. With the identification of the NF1 gene and its gene product, nucleic acid probes and antibodies raised to the gene product can be used in a variety of hybridization and immunological assays to screen for NF1 and detect it in its early stages. Conventional and gene therapies can also be developed to treat those afflicted with the disease.
    Type: Grant
    Filed: May 25, 1995
    Date of Patent: January 12, 1999
    Assignee: The Regents of the University of Michigan
    Inventors: Francis S. Collins, Margaret R. Wallace, Douglas A. Marchuk, Lone B. Andersen, David H. Gutmann
  • Methods of detecting cystic fibrosis gene by nucleic acid hybridization
    Patent number: 5776677
    Abstract: The cystic fibrosis gene and its gene product are described for both the normal and mutant forms. The genetic and protein information is used in developing DNA diagnosis, protein diagnosis, carrier and patient screening, drug and gene therapy, cloning of the gene and manufacture of the protein, and development of cystic fibrosis affected animals.
    Type: Grant
    Filed: June 6, 1995
    Date of Patent: July 7, 1998
    Assignees: HSC Research Development Corporation, The Board of Regents, Acting for and on Behalf of The University of Michigan
    Inventors: Lap-Chee Tsui, John R. Riordan, Francis S. Collins, Johanna M. Rommens, Michael C. Iannuzzi, Bat-Sheva Kerem, Mitchell L. Drumm, Manuel Buchwald
  • Gene therapy vector for cystic fibrosis
    Patent number: 5240846
    Abstract: The present invention comprises gene therapy for treating cystic fibrosis(CF). Delivery and expression of a single copy of a normal CFTR gene leads to stable correction of the Cl channel regulation defect present in CF epithelial cells. The present invention includes recombinant viral and plasmid vectors, alternative CFTR gene delivery strategies, and transduced CF cells and cell lines carrying a recombinant gene for functional CFTR. CF epithelial complementation through transduction of the present invention also provides an assay for determining the validity of other putative CF mutations.
    Type: Grant
    Filed: September 18, 1990
    Date of Patent: August 31, 1993
    Assignee: The Regents of the University of Michigan
    Inventors: Francis S. Collins, James M. Wilson
  • , the gene associated with multiple endocrine neoplasia type 1, menin polypeptides and uses thereof
    Patent number: 7358347
    Abstract: The invention relates to the discovery of a novel tumor suppressor gene which is associated with multiple endocrine neoplasia type 1. The gene has been designated MEN1 and the gene product is menin. The absence of this protein and associated mutations in the corresponding gene have been identified in individuals suffering from multiple endocrine neoplasia type 1. The identification of this marker for multiple endocrine neoplasia type 1 has diagnostic uses as well as for gene therapy.
    Type: Grant
    Filed: March 4, 1998
    Date of Patent: April 15, 2008
    Assignee: The United States of America as represented by the Department of Health and Human Services
    Inventors: Settara Chandrasekharappa, Siradanahalli Guru, Pachiappan Manickam, Francis S. Collins, Michael R. Emmert-Buck, Larisa V. Debelenko, Irina A. Lubensky, Lance A. Liotta, Sunita K. Agarwal, Allen M. Spiegel, A. Lee Burns, Stephen J. Marx, Zhengping Zhuang
  • LMNA GENE AND ITS INVOLVEMENT IN HUTCHINSON-GILFORD PROGERIA SYNDROME (HGPS) AND ARTERIOSCLEROSIS
    Publication number: 20120045762
    Abstract: Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), are also described. Oligonucleotides and other compounds for use in examples of the described methods are also provided, as are protein-specific binding agents, such as antibodies, that bind specifically to at least one epitope of a Lamin A variant protein preferentially compared to wildtype Lamin A, and methods of using such antibodies in diagnosis, treatment, and screening.
    Type: Application
    Filed: September 9, 2011
    Publication date: February 23, 2012
    Inventors: B. Maria H. Eriksson, Francis S. Collins, Leslie B. Gordon, W. Ted Brown
  • FARNESYLTRANSFERASE INHIBITORS FOR TREATMENT OF LAMINOPATHIES, CELLULAR AGING AND ATHEROSCLEROSIS
    Publication number: 20120329066
    Abstract: Although it can be farnesylated, mutant lamin A expressed in Hutchinson Gilford Progeria Syndrome cannot be defarnesylated; the characteristic mutation causes deletion of a cleavage site necessary for binding the protease ZMPSTE24 and effecting defarnesylation. The result is an aberrant farnesylated protein (“progerin”) that alters normal lamin A function as a dominant negative, and assumes its own aberrant function through its association with the nuclear membrane. Retention of farnesylation, and potentially other abnormal properties of progerin and other abnormal lamin gene protein products, produces disease. Farnesyltransferase inhibitors (FTIs) will inhibit formation of progerin, cause a decrease in lamin A protein, and/or an increase prelamin A protein. Decreasing the amount of aberrant protein improves cellular effects caused by and progerin expression. Similarly, treatment with FTIs should improve disease status in progeria and other laminopathies.
    Type: Application
    Filed: August 6, 2012
    Publication date: December 27, 2012
    Inventors: Leslie B. Gordon, Francis S. Collins, Thomas Glover, Michael W. Glynn, Brian C. Capell, Adrienne D. Cox, Channing J. Der
  • Method of testing potential cystic fibrosis treating compounds using cells in culture
    Patent number: 5434086
    Abstract: Cystic fibrosis (CF), a lethal genetic disease associated with a defect in Cl transport, is caused by mutations in the gene coding for cystic fibrosis transmembrane conductance regulator (CFTR). Surprisingly, not only wild type CFTR, but several naturally-occurring CFTR mutants carrying a defect in the first nucleotide binding fold (NFB1) all expressed cAMP-activatable Cl currents. Treatment of the CFTR mutants with appropriate concentrations of methylxanthine phosphodiesterase inhibitor (which increases cAMP levels) activated Cl conductance to near wild type levels. The present invention thus provides a new avenue for treating cystic fibrosis by the administration of therapeutically effective amounts of compounds which elevate cAMP levels. Dosage and patient responsiveness to treatment, as well as relative efficacies of the compounds being or to be administered can also be determined in accordance with the methods of present invention.
    Type: Grant
    Filed: December 9, 1993
    Date of Patent: July 18, 1995
    Assignee: The Regents of the University of Michigan
    Inventors: Francis S. Collins, Mitchell L. Drumm, David C. Dawson, Daniel J. Wilkinson
  • FARNESYLTRANSFERASE INHIBITORS FOR TREATMENT OF LAMINOPATHIES, CELLULAR AGING AND ATHEROSCLEROSIS
    Publication number: 20150018381
    Abstract: Although it can be farnesylated, the mutant lamin A protein expressed in Hutchinson Gilford Progeria Syndrome (HGPS) cannot be defarnesylated because the characteristic mutation causes deletion of a cleavage site necessary for binding the protease ZMPSTE24 and effecting defarnesylation. The result is an aberrant farnesylated protein (called “progerin”) that alters normal lamin A function as a dominant negative, as well as assuming its own aberrant function through its association with the nuclear membrane. The retention of farnesylation, and potentially other abnormal properties of progerin and other abnormal lamin gene protein products, produces disease. Farnesyltransferase inhibitors (FTIs) (both direct effectors and indirect inhibitors) will inhibit the formation of progerin, cause a decrease in lamin A protein, and/or an increase prelamin A protein. Decreasing the amount of aberrant protein improves cellular effects caused by and progerin expression.
    Type: Application
    Filed: July 21, 2014
    Publication date: January 15, 2015
    Inventors: Leslie B. GORDON, Francis S. COLLINS, Thomas GLOVER, Michael W. GLYNN, Brian C. CAPELL, Adrienne D. COX, Channing J. DER
  • FARNESYLTRANSFERASE INHIBITORS FOR TREATMENT OF LAMINOPATHIES, CELLULAR AGING AND ATHEROSCLEROSIS
    Publication number: 20080131375
    Abstract: Although it can be farnesylated, the mutant lamin A protein expressed in Hutchison Gilford Progeria Syndrome (HGPS) cannot be defarnesylated because the characteristic mutation causes deletion of a cleavage site necessary for binding the protease ZMPSTE24 and effecting defarnesylation. The result is an aberrant farnesylated protein (called “progerin”) that alters normal lamin A function as a dominant negative, as well as assuming its own aberrant function through its association with the nuclear membrane. The retention of farnesylation, and potentially other abnormal properties of progerin and other abnormal lamin gene protein products, produces disease. Farnesyltransferase inhibitors (FTIs) (both direct effectors and indirect inhibitors) will inhibit the formation of progerin, cause a decrease in lamin A protein, and/or an increase prelamin A protein. Decreasing the amount of aberrant protein improves cellular effects caused by and progerin expression.
    Type: Application
    Filed: July 25, 2007
    Publication date: June 5, 2008
    Inventors: Leslie B. Gordon, Francis S. Collins, Thomas Glover, Michael W. Glynn, Brian C. Capell, Adrienne D. Cox, Channing J. Der
  • FARNESYLTRANSFERASE INHIBITORS FOR TREATMENT OF LAMINOPATHIES, CELLULAR AGING AND ATHEROSCLEROSIS
    Publication number: 20110027806
    Abstract: Although it can be farnesylated, the mutant lamin A protein expressed in Hutchinson Gilford Progeria Syndrome (HGPS) cannot be defarnesylated because the characteristic mutation causes deletion of a cleavage site necessary for binding the protease ZMPSTE24 and effecting defarnesylation. The result is an aberrant farnesylated protein (called “progerin”) that alters normal lamin A function as a dominant negative, as well as assuming its own aberrant function through its association with the nuclear membrane. The retention of farnesylation, and potentially other abnormal properties of progerin and other abnormal lamin gene protein products, produces disease. Farnesyltransferase inhibitors (FTIs) (both direct effectors and indirect inhibitors) will inhibit the formation of progerin, cause a decrease in lamin A protein, and/or an increase prelamin A protein. Decreasing the amount of aberrant protein improves cellular effects caused by and progerin expression.
    Type: Application
    Filed: October 15, 2010
    Publication date: February 3, 2011
    Inventors: LESLIE B. GORDON, FRANCIS S. COLLINS, THOMAS GLOVER, MICHAEL W. GLYNN, BRIAN C. CAPELL, ADRIENNE D. COX, CHANNING J. DER
  • LMNA GENE AND ITS INVOLVEMENT IN HUTCHINSON-GILFORD PROGERIA SYNDROME (HGPS) AND ARTERIOSCLEROSIS
    Publication number: 20160002307
    Abstract: Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), methods of treating such conditions, methods of selecting treatments, methods of screening for compounds that influence Lamin A activity, and methods of influencing the expression of LMNA or LMNA variants are also described.
    Type: Application
    Filed: July 14, 2015
    Publication date: January 7, 2016
    Inventors: B. Maria H. Eriksson, Francis S. Collins, Leslie B. Gordon, William Ted Brown
  • gene and its involvement in Hutchinson-Gilford Progeria Syndrome (HGPS) and arteriosclerosis
    Patent number: 8535884
    Abstract: Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), are also described. Oligonucleotides and other compounds for use in examples of the described methods are also provided, as are protein-specific binding agents, such as antibodies, that bind specifically to at least one epitope of a Lamin A variant protein preferentially compared to wildtype Lamin A, and methods of using such antibodies in diagnosis, treatment, and screening.
    Type: Grant
    Filed: September 9, 2011
    Date of Patent: September 17, 2013
    Assignees: The United States of America as represented by the Secretary of the Department of Health and Human Services, Research Foundation for Mental Hygiene, Inc., The Progeria Research Foundation, Inc.
    Inventors: B. Maria H. Eriksson, Francis S. Collins, Leslie B. Gordon, W. Ted Brown
  • LMNA GENE AND ITS INVOLVEMENT IN HUTCHINSON-GILFORD PROGERIA SYNDROME (HGPS) AND ARTERIOSCLEROSIS
    Publication number: 20140072973
    Abstract: Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), methods of treating such conditions, methods of selecting treatments, methods of screening for compounds that influence Lamin A activity, and methods of influencing the expression of LMNA or LMNA variants are also described.
    Type: Application
    Filed: September 12, 2013
    Publication date: March 13, 2014
    Inventors: B. Maria H. Eriksson, Francis S. Collins, Leslie B. Gordon, William Ted Brown
  • Farnesyltransferase inhibitors for treatment of laminopathies, cellular aging and atherosclerosis
    Patent number: 8691501
    Abstract: Although it can be farnesylated, mutant lamin A expressed in Hutchinson Gilford Progeria Syndrome cannot be defarnesylated; the characteristic mutation causes deletion of a cleavage site necessary for binding the protease ZMPSTE24 and effecting defarnesylation. The result is an aberrant farnesylated protein (“progerin”) that alters normal lamin A function as a dominant negative, and assumes its own aberrant function through its association with the nuclear membrane. Retention of farnesylation, and potentially other abnormal properties of progerin and other abnormal lamin gene protein products, produces disease. Farnesyltransferase inhibitors (FTIs) will inhibit formation of progerin, cause a decrease in lamin A protein, and/or an increase prelamin A protein. Decreasing the amount of aberrant protein improves cellular effects caused by and progerin expression. Similarly, treatment with FTIs should improve disease status in progeria and other laminopathies.
    Type: Grant
    Filed: August 6, 2012
    Date of Patent: April 8, 2014
    Assignees: Progeria Research Foundation, Inc., The United States of America as represented by the Secretary of the Department of Health and Human Services, The Universitry of North Carolina at Chapel Hill, The Regents of the University of Michigan
    Inventors: Leslie B. Gordon, Francis S. Collins, Thomas Glover, Michael W. Glynn, Brian C. Capell, Adrienne D. Cox, Channing J. Der
  • Farnesyltransferase inhibitors for treatment of laminopathies, cellular aging and atherosclerosis
    Patent number: 8828356
    Abstract: Although it can be farnesylated, the mutant lamin A protein expressed in Hutchinson Gilford Progeria Syndrome (HGPS) cannot be defarnesylated because the characteristic mutation causes deletion of a cleavage site necessary for binding the protease ZMPSTE24 and effecting defarnesylation. The result is an aberrant farnesylated protein (called “progerin”) that alters normal lamin A function as a dominant negative, as well as assuming its own aberrant function through its association with the nuclear membrane. The retention of farnesylation, and potentially other abnormal properties of progerin and other abnormal lamin gene protein products, produces disease. Farnesyltransferase inhibitors (FTIs) (both direct effectors and indirect inhibitors) will inhibit the formation of progerin, cause a decrease in lamin A protein, and/or an increase prelamin A protein. Decreasing the amount of aberrant protein improves cellular effects caused by and progerin expression.
    Type: Grant
    Filed: April 4, 2013
    Date of Patent: September 9, 2014
    Assignees: Progeria Research Foundation, Inc., The United States of America as represented by the Secretary of the Department of Health and Human Services, The University of North Carolina at Chapel Hill, The Regents of the University of Michigan
    Inventors: Leslie B. Gordon, Francis S. Collins, Thomas Glover, Michael W. Glynn, Brian C. Capell, Adrienne D. Cox, Channing J. Der
  • gene and its involvement in Hutchinson-Gilford Progeria Syndrome (HGPS) and arteriosclerosis
    Patent number: 9115400
    Abstract: Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), methods of treating such conditions, methods of selecting treatments, methods of screening for compounds that influence Lamin A activity, and methods of influencing the expression of LMNA or LMNA variants are also described.
    Type: Grant
    Filed: September 12, 2013
    Date of Patent: August 25, 2015
    Assignees: The Government of the United States of America as represented by the Secretary of the Department of Health and Human Services, Research Foundation for Mental Hygiene, Inc., The Progeria Research Foundation, Inc.
    Inventors: B. Maria H. Eriksson, Francis S. Collins, Leslie B. Gordon, William Ted Brown
  • LMNA gene and its involvement in Hutchinson-Gilford Progeria Syndrome (HGPS) and arteriosclerosis
    Patent number: 7297492
    Abstract: Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), methods of treating such conditions, methods of selecting treatments, methods of screening for compounds that influence Lamin A activity, and methods of influencing the expression of LMNA or LMNA variants are also described.
    Type: Grant
    Filed: September 17, 2004
    Date of Patent: November 20, 2007
    Assignees: The United States of America as represented by the Secretary of the Department of Health and Human Services, The Progeria Research Foundation, Inc., Research Foundation for Mental Hygiene, Inc.
    Inventors: B. Maria H. Eriksson, Francis S. Collins, Leslie B. Gordon, W. Ted Brown
  • Farnesyltransferase inhibitors for treatment of laminopathies, cellular aging and atherosclerosis
    Patent number: 8257915
    Abstract: Although it can be farnesylated, the mutant lamin A protein expressed in Hutchinson Gilford Progeria Syndrome (HGPS) cannot be defarnesylated because the characteristic mutation causes deletion of a cleavage site necessary for binding the protease ZMPSTE24 and effecting defarnesylation. The result is an aberrant farnesylated protein (called “progerin”) that alters normal lamin A function as a dominant negative, as well as assuming its own aberrant function through its association with the nuclear membrane. The retention of farnesylation, and potentially other abnormal properties of progerin and other abnormal lamin gene protein products, produces disease. Farnesyltransferase inhibitors (FTIs) (both direct effectors and indirect inhibitors) will inhibit the formation of progerin, cause a decrease in lamin A protein, and/or an increase prelamin A protein. Decreasing the amount of aberrant protein improves cellular effects caused by and progerin expression.
    Type: Grant
    Filed: October 15, 2010
    Date of Patent: September 4, 2012
    Assignees: Progeria Research Foundation, Inc., The United States of America as represented by the Secretary of the Department of Health and Human Services, The University of North Carolina at Chapel Hill, The Regents of the University of Michigan
    Inventors: Leslie B. Gordon, Francis S. Collins, Thomas Glover, Michael W. Glynn, Brian C. Capell, Adrienne D. Cox, Channing J. Der
  • Farnesyltransferase inhibitors for treatment of laminopathies, cellular aging and atherosclerosis
    Patent number: 7838531
    Abstract: Although it can be farnesylated, the mutant lamin A protein expressed in Hutchison Gilford Progeria Syndrome (HGPS) cannot be defarnesylated because the characteristic mutation causes deletion of a cleavage site necessary for binding the protease ZMPSTE24 and effecting defarnesylation. The result is an aberrant farnesylated protein (called “progerin”) that alters normal lamin A function as a dominant negative, as well as assuming its own aberrant function through its association with the nuclear membrane. The retention of farnesylation, and potentially other abnormal properties of progerin and other abnormal lamin gene protein products, produces disease. Farnesyltransferase inhibitors (FTIs) (both direct effectors and indirect inhibitors) will inhibit the formation of progerin, cause a decrease in lamin A protein, and/or an increase prelamin A protein. Decreasing the amount of aberrant protein improves cellular effects caused by and progerin expression.
    Type: Grant
    Filed: July 25, 2007
    Date of Patent: November 23, 2010
    Assignees: The United States of America as represented by the Department of Health and Human Services, The Regents of the University of Michiga, Progeria Research Foundation, Inc., The University of North Carolina at Chapel Hill
    Inventors: Leslie B. Gordon, Francis S. Collins, Thomas Glover, Michael W. Glynn, Brian C. Capell, Adrienne D. Cox, Channing J. Der
  • LMNA gene and its involvement in Hutchinson-Gilford Progeria Syndrome (HGPS) and arteriosclerosis
    Patent number: 8034557
    Abstract: Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), methods of treating such conditions, methods of selecting treatments, methods of screening for compounds that influence Lamin A activity, and methods of influencing the expression of LMNA or LMNA variants are also described.
    Type: Grant
    Filed: October 10, 2007
    Date of Patent: October 11, 2011
    Assignees: The United States of America as represented by the Secretary of the Department of Health and Human Services, Research Foundation for Mental Hygiene, Inc., The Progeria Research Foundation, Inc.
    Inventors: B. Maria H. Eriksson, Francis S. Collins, Leslie B. Gordon, W. Ted Brown
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