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John A Martignetti Selected Research

Hyaline Fibromatosis Syndrome

1/2018Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation.
4/2011Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors.
11/2006Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2).

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John A Martignetti Research Topics

Disease

38Neoplasms (Cancer)
12/2019 - 04/2004
11Ovarian Neoplasms (Ovarian Cancer)
12/2019 - 06/2009
7Prostatic Neoplasms (Prostate Cancer)
03/2012 - 04/2004
5Hajdu-Cheney Syndrome (Multicentric Osteolysis)
12/2013 - 04/2007
4Osteolysis
01/2020 - 04/2007
4Joint Diseases (Joint Disease)
12/2013 - 04/2007
4Ovarian Epithelial Carcinoma
01/2012 - 06/2006
3Hyaline Fibromatosis Syndrome
01/2018 - 11/2006
3Arthritis (Polyarthritis)
03/2013 - 05/2009
3Hepatocellular Carcinoma (Hepatoma)
12/2008 - 11/2004
2Osteolysis hereditary multicentric
01/2020 - 04/2007
2Osteoporosis
01/2020 - 04/2007
2Carcinoma (Carcinomatosis)
09/2014 - 03/2012
2Squamous Cell Carcinoma of Head and Neck
11/2007 - 05/2005
1Dwarfism
01/2020
1Hirsutism
01/2020
1Exanthema (Rash)
12/2019
1Failure to Thrive
01/2018
1Diarrhea
01/2018
1Contracture
01/2018
1Residual Neoplasm
01/2015
1Peutz-Jeghers Syndrome (Polyposis, Hamartomatous Intestinal)
07/2014
1Polyps
07/2014
1Pseudomonas Infections
01/2014
1Malnutrition (Nutritional Deficiencies)
12/2013
1Obesity
12/2013
1Morbid Obesity
12/2013
1Juvenile Arthritis (Juvenile Idiopathic Arthritis)
12/2013
1Hemorrhage
09/2013
1Thrombocytopenia (Thrombopenia)
09/2013
1Otitis Media
09/2013
1MYH9-Related Disorders
09/2013
1Myofibromatosis
06/2013
1Winchester syndrome
09/2012
1Disease Progression
10/2011
1Inborn Genetic Diseases (Disease, Hereditary)
04/2011
1Liver Diseases (Liver Disease)
02/2011
1Liver Cirrhosis (Hepatic Cirrhosis)
02/2011
1Fibrosis (Cirrhosis)
02/2011

Drug/Important Bio-Agent (IBA)

13Proteins (Proteins, Gene)FDA Link
12/2013 - 02/2005
9DNA (Deoxyribonucleic Acid)IBA
01/2019 - 04/2004
8Kruppel-Like Factor 6IBA
12/2009 - 04/2004
7Biomarkers (Surrogate Marker)IBA
12/2019 - 11/2007
7RNA (Ribonucleic Acid)IBA
03/2017 - 12/2005
7Transcription Factors (Transcription Factor)IBA
09/2014 - 11/2004
7Protein Isoforms (Isoforms)IBA
12/2009 - 02/2005
6Matrix Metalloproteinase 2 (Gelatinase A)IBA
01/2020 - 04/2007
4Pharmaceutical PreparationsIBA
01/2019 - 04/2007
4Small Interfering RNA (siRNA)IBA
06/2009 - 07/2005
3PlatinumIBA
02/2018 - 09/2014
3anthrax toxin receptorsIBA
01/2018 - 11/2006
3Cisplatin (Platino)FDA LinkGeneric
06/2009 - 02/2008
2Hormones (Hormone)IBA
01/2020 - 08/2008
2Peptides (Polypeptides)IBA
02/2018 - 01/2018
2Circulating Tumor DNAIBA
01/2015 - 01/2014
2Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA
02/2009 - 06/2006
2Cyclin D1IBA
02/2009 - 04/2007
2Kruppel-Like Transcription Factors (Kruppel-Like Factors)IBA
09/2007 - 06/2004
1Hydrocortisone (Cortisol)FDA LinkGeneric
01/2020
1A-factor (Streptomyces)IBA
01/2020
1CytokinesIBA
01/2020
1Biological ProductsIBA
01/2018
1KPT-185IBA
03/2017
1Nuclear Proteins (Protein, Nuclear)IBA
03/2017
1selinexorIBA
03/2017
15- (2'- naphthyl)- 7- 4- chlorophenyl- (2,3,6,8- tetrahydro)pyrrolo- (3,4- e)(1,4)- diazepine- 6- thioxo- 8- (1H,7H)oneIBA
03/2017
1Cell-Free Nucleic AcidsIBA
12/2016
1Interferon Regulatory Factor-1 (Interferon Regulatory Factor 1)IBA
09/2014
1Protein Kinases (Protein Kinase)IBA
07/2014
1Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA
07/2014
1AntigensIBA
01/2014
1Sepharose (Agarose)IBA
01/2014
1Simvastatin (Zocor)FDA LinkGeneric
01/2014
1infigratinibIBA
01/2014
1Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA
01/2014
1Nonmuscle Myosin Type IIAIBA
09/2013
1eltrombopagFDA Link
09/2013
1Platelet-Derived Growth Factor beta Receptor (Receptor, Platelet Derived Growth Factor beta)IBA
06/2013
1Matrix Metalloproteinase 14 (MT1-MMP)IBA
09/2012
1Metalloproteases (Metalloproteinases)IBA
09/2012
1Histone Deacetylase InhibitorsIBA
03/2012
1trichostatin A (A 300)IBA
03/2012
1Insulin-Like Growth Factor Binding Protein 4IBA
01/2012
1Insulin-Like Growth Factor Binding ProteinsIBA
01/2012
1Glutathione PeroxidaseIBA
10/2011
1Proteasome InhibitorsIBA
04/2011
1Membrane Proteins (Integral Membrane Proteins)IBA
04/2011
1Messenger RNA (mRNA)IBA
02/2011
1Collagenases (Collagenase)FDA Link
02/2011
1Matrix Metalloproteinases (MMPs)IBA
02/2011
1Collagen Type I (Type I Collagen)IBA
02/2011
1CollagenIBA
02/2011

Therapy/Procedure

7Therapeutics
02/2018 - 04/2007
5Drug Therapy (Chemotherapy)
12/2019 - 02/2008
2Precision Medicine
01/2018 - 01/2015
2Prostatectomy (Retropubic Prostatectomy)
08/2008 - 02/2006
1Lasers (Laser)
12/2018
1Curettage
12/2016
1Tympanoplasty
09/2013
1Platelet Transfusion (Blood Platelet Transfusions)
09/2013