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Peter N Robinson Selected Research

Marfan Syndrome (Marfan's Syndrome)

12/2019Assessment of Bones Deficient in Fibrillin-1 Microfibrils Reveals Pronounced Sex Differences.
12/2017AP-1 Oligodeoxynucleotides Reduce Aortic Elastolysis in a Murine Model of Marfan Syndrome.
9/2016NT-proBNP and diastolic left ventricular function in patients with Marfan syndrome.
11/2014Total serum transforming growth factor-β1 is elevated in the entire spectrum of genetic aortic syndromes.
9/2013Regulation of fibrillin-1 gene expression by Sp1.
6/2013Indomethacin Prevents the Progression of Thoracic Aortic Aneurysm in Marfan Syndrome Mice.
6/2013The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta.
4/2011Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.
1/2011Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein.
12/2010Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.
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Peter N Robinson Research Topics

Disease

17Marfan Syndrome (Marfan's Syndrome)
12/2019 - 09/2002
8Intellectual Disability (Idiocy)
01/2018 - 10/2010
5COVID-19
01/2022 - 01/2020
4Rare Diseases (Rare Disease)
01/2019 - 10/2015
3Undiagnosed Diseases
01/2019 - 01/2016
3Hyperphosphatasia with Mental Retardation
01/2018 - 07/2012
3Seizures (Absence Seizure)
01/2018 - 07/2012
3Thoracic Aortic Aneurysm
11/2014 - 12/2010
3Loeys-Dietz Syndrome
11/2014 - 12/2010
2Acute Kidney Injury (Acute Renal Failure)
01/2022 - 12/2021
2Pneumonia (Pneumonitis)
01/2022 - 12/2021
2Pain (Aches)
01/2022 - 12/2021
2Inflammation (Inflammations)
01/2022 - 12/2021
2Fever (Fevers)
01/2022 - 12/2021
2Neoplasms (Cancer)
12/2021 - 06/2006
2Congenital Disorders of Glycosylation
01/2020 - 04/2013
2Muscle Hypotonia (Hypotonia)
01/2018 - 04/2013
2Aneurysm (Aneurysms)
12/2014 - 03/2012
2Cataract (Cataracts)
11/2014 - 03/2006
2Aortic Dissection
07/2010 - 09/2009
2Aortic Diseases
07/2010 - 09/2009
1Post-Acute COVID-19 Syndrome
05/2022
1Cognitive Dysfunction
12/2021
1Epilepsy (Aura)
12/2021
1Kidney Diseases (Kidney Disease)
11/2020
1Eye Diseases (Eye Disease)
08/2019
1Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
01/2019
1Asthma (Bronchial Asthma)
01/2019
1Aortic Root Aneurysm
12/2017
1Autosomal Dominant Cutis Laxa
09/2015
1Acrocephalosyndactylia (Apert Syndrome)
08/2015
1Hyperbilirubinemia
03/2015
1Hereditary Hyperbilirubinemia (Rotor Syndrome)
03/2015
1Left Ventricular Dysfunction
12/2014
1Bicuspid Aortic Valve Disease
11/2014
1Usher Syndromes (Usher Syndrome)
09/2014
1Cardiomyopathies (Cardiomyopathy)
10/2013
1Paroxysmal Hemoglobinuria (Paroxysmal Nocturnal Hemoglobinuria)
08/2013
1Primary Immunodeficiency Diseases
03/2013
1Ventricular Tachycardia
01/2013
1Cardiac Arrhythmias (Arrythmia)
01/2013
1Mitral Valve Insufficiency (Mitral Regurgitation)
01/2013
1Cardiac Sudden Death (Sudden Cardiac Arrest)
01/2013
1Glycosylphosphatidylinositol deficiency
02/2012
1Developmental Bone Diseases (Bone Dysplasia)
07/2011
1Neurofibromatosis 1 (Neurofibromatosis Type I)
07/2011
1Scoliosis
07/2011

Drug/Important Bio-Agent (IBA)

9Fibrillin-1IBA
12/2019 - 09/2002
8Proteins (Proteins, Gene)FDA Link
01/2022 - 10/2004
8Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA
12/2021 - 02/2012
5Alkaline PhosphataseIBA
01/2018 - 10/2010
2Recombinant DNA (Recombinant DNA Research)IBA
01/2022 - 07/2021
2Protein Isoforms (Isoforms)IBA
01/2022 - 07/2021
2Messenger RNA (mRNA)IBA
01/2022 - 07/2021
2Ibuprofen (Motrin)FDA LinkGeneric
01/2022 - 12/2021
2Non-Steroidal Anti-Inflammatory Agents (NSAIDs)IBA
01/2022 - 12/2021
2Transforming Growth Factor beta (TGF-beta)IBA
12/2019 - 11/2014
2Biomarkers (Surrogate Marker)IBA
01/2019 - 06/2006
2Matrix Metalloproteinases (MMPs)IBA
12/2017 - 01/2005
2Uridine Diphosphate (UDP)IBA
01/2017 - 01/2016
2pro-brain natriuretic peptide (1-76)IBA
09/2016 - 01/2013
2DNA (Deoxyribonucleic Acid)IBA
11/2014 - 03/2006
21,3,4,6- tetra- O- acetyl- 2- azido- 2- deoxyglucopyranose (TAAD)IBA
11/2014 - 12/2010
2Transforming Growth Factor-beta Type II ReceptorIBA
03/2012 - 12/2010
2Transforming Growth Factor beta Receptors (TGF beta Receptors)IBA
03/2012 - 12/2010
2APTIBA
07/2010 - 09/2009
1Protein Kinases (Protein Kinase)IBA
12/2021
1Biological ProductsIBA
11/2020
1Extracellular Matrix ProteinsIBA
12/2019
1Retinaldehyde (Retinal)IBA
08/2019
1Polysaccharides (Glycans)IBA
01/2019
1ChemokinesIBA
01/2019
1CarbohydratesIBA
01/2019
1EnzymesIBA
01/2018
1Transcription Factor AP-1 (Transcription Factor AP 1)IBA
12/2017
1OligodeoxyribonucleotidesIBA
12/2017
1MMEIBA
10/2015
1Ornithine-Oxo-Acid Transaminase (Ornithine Aminotransferase)IBA
09/2015
1Amino AcidsFDA Link
08/2015
1Peptides (Polypeptides)IBA
03/2015
1AnionsIBA
03/2015
14-S-(propionic acid)sulfidocyclophosphamide (PASP)IBA
12/2014
1Crystallins (Crystallin)IBA
11/2014
1NucleotidesIBA
09/2014
1Phosphates (Orthophosphate)IBA
06/2014
1GPI-Linked ProteinsIBA
02/2014
1Indomethacin (Indometacin)FDA LinkGeneric
06/2013
1Interleukin-21 ReceptorsIBA
03/2013
1Polyvinyl Chloride (PVC)IBA
01/2013
1MannosyltransferasesIBA
02/2012
1Neurofibromin 1 (Neurofibromin)IBA
07/2011
1ras GTPase-Activating Proteins (ras-GAP)IBA
07/2011
1elastin-binding proteinsIBA
01/2011
16-chloro-2-(1-piperazinyl)pyrazine (CPP)IBA
07/2010
1Brain Natriuretic Peptide (Natrecor)FDA Link
06/2010

Therapy/Procedure

2Therapeutics
05/2022 - 12/2021
2Extracorporeal Membrane Oxygenation
01/2022 - 12/2021
2Precision Medicine
11/2020 - 05/2017
1Ambulatory Care (Outpatient Care)
01/2020
1Heart Transplantation (Grafting, Heart)
10/2013