Marina Colombi Selected Research

galactosylxylosylprotein 3-beta-galactosyltransferase

3/2015

Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.

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Marina Colombi Research Topics

Disease

13	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 11/2021 - 04/2004
7	Neoplasms (Cancer) 08/2016 - 04/2003
4	Loeys-Dietz Syndrome 11/2019 - 04/2006
4	Rhabdomyosarcoma 07/2015 - 01/2014
3	Type IV Ehlers-Danlos Syndrome 05/2022 - 10/2012
3	Sarcoma (Soft Tissue Sarcoma) 08/2016 - 01/2014
2	Cicatrix (Scar) 10/2019 - 09/2012
2	Neurodevelopmental Disorders 01/2019 - 01/2018
2	Motor Skills Disorders (Motor Skills Disorder) 01/2019 - 01/2018
2	Wounds and Injuries (Trauma) 01/2019 - 10/2008
2	Cerebral Hemorrhage 01/2018 - 06/2013
2	Hemorrhage 01/2018 - 09/2012
2	Renal hypouricemia 01/2016 - 01/2014
2	Nephrolithiasis 01/2016 - 01/2014
2	Acute Kidney Injury (Acute Renal Failure) 01/2016 - 01/2014
2	Prolapse 05/2013 - 09/2012
2	Joint Instability (Joint Laxity) 02/2012 - 04/2004
1	Hereditary alpha-tryptasemia syndrome 04/2022
1	Hypertension (High Blood Pressure) 10/2021
1	Osteogenesis Imperfecta (Lobstein Disease) 01/2020
1	Chronic Mucocutaneous Candidiasis 11/2019
1	Cerebral Infarction 10/2019
1	Aortic Dissection 10/2019
1	Gerodermia osteodysplastica 01/2019
1	Inflammation (Inflammations) 03/2018
1	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 01/2018
1	Agraphia (Dysgraphia) 01/2018
1	Ischemic Stroke 01/2018
1	Rupture 01/2018
1	Learning Disabilities (Learning Disability) 01/2018
1	Cutis Laxa 10/2017
1	Liposarcoma 08/2016
1	Hypertrophy 08/2016
1	Familial Thoracic 1 Aortic Aneurysm 06/2016
1	Aortic Rupture 06/2016
1	Stroke (Strokes) 01/2016
1	Spondyloepimetaphyseal Dysplasia With Joint Laxity 03/2015
1	Hematoma 02/2014
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2014
1	Obesity 06/2013
1	Visceral Prolapse (Visceroptosis) 05/2013
1	Ascending Aorta Aneurysm 05/2013
1	Osteoarthritis 05/2013
1	Pathologic Processes 10/2012

Drug/Important Bio-Agent (IBA)

7	Fibronectins (Fibronectin)IBA 01/2019 - 04/2003
6	Proteins (Proteins, Gene)FDA Link 01/2019 - 04/2003
5	IntegrinsIBA 01/2019 - 04/2004
4	CollagenIBA 05/2022 - 04/2004
4	Collagen Type V (Type V Collagen)IBA 10/2020 - 08/2008
3	Transforming Growth Factor-beta Type II ReceptorIBA 11/2019 - 12/2011
3	Transforming Growth Factor-beta Type I ReceptorIBA 10/2019 - 12/2011
3	Caveolin 1IBA 08/2016 - 01/2014
2	Glycine (Aminoacetic Acid)FDA LinkGeneric 05/2022 - 01/2018
2	Biological ProductsIBA 01/2021 - 06/2013
2	Transforming Growth Factor beta (TGF-beta)IBA 10/2019 - 04/2006
2	dicarboxydine (DCD)IBA 01/2019 - 01/2018
2	Collagen Type III (Type III Collagen)IBA 01/2018 - 10/2012
2	AnticoagulantsIBA 01/2018 - 02/2014
2	Insulin (Novolin)FDA Link 08/2016 - 08/2008
2	Uric Acid (Urate)IBA 01/2016 - 01/2014
1	Glutamic Acid (Glutamate)FDA Link 05/2022
1	Lysine (L-Lysine)FDA Link 05/2022
1	Tryptases (Tryptase)IBA 04/2022
1	Doxycycline (Periostat)FDA LinkGeneric 11/2021
1	Matrix Metalloproteinases (MMPs)IBA 11/2021
1	ORALIT (ORS)IBA 10/2021
1	ProteomeIBA 01/2021
1	Collagen Type I (Type I Collagen)IBA 10/2020
1	alpha2 Subunit Collagen Type IIBA 01/2020
1	beta-cyclodextrin tetradecasulfate (CTDS)IBA 11/2019
1	tenascin XIBA 10/2019
1	GalactosyltransferasesIBA 01/2019
1	Glucuronosyltransferase (UDP Glucuronosyltransferase)IBA 01/2019
1	Warfarin (Coumadin)FDA LinkGeneric 01/2018
1	Platelet Aggregation Inhibitors (Antiplatelet Drugs)IBA 01/2018
1	LipidsIBA 08/2016
1	Glucose (Dextrose)FDA LinkGeneric 08/2016
1	Caveolin 2IBA 08/2016
1	CholesterolIBA 01/2016
1	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 01/2016
1	MelatoninIBA 07/2015
1	Doxorubicin (Adriamycin)FDA LinkGeneric 07/2015
1	Cisplatin (Platino)FDA LinkGeneric 07/2015
1	GlycosaminoglycansIBA 03/2015
1	Proteoglycans (Proteoglycan)IBA 03/2015
1	galactosylxylosylprotein 3-beta-galactosyltransferaseIBA 03/2015
1	Caveolin 3IBA 01/2015
1	Tyrosine (L-Tyrosine)FDA Link 01/2014
1	src-Family KinasesIBA 01/2014
1	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 10/2012

Therapy/Procedure

1	Thrombectomy 10/2019
1	Therapeutics 10/2019
1	Semiconductors 10/2017
1	Endovascular Aneurysm Repair 06/2016
1	Heterologous Transplantation (Xenotransplantation) 01/2014
1	Gastropexy 05/2013
1	Operative Surgical Procedures 05/2013
1	Gastroenterostomy 05/2013
1	Gastrectomy 05/2013
1	Episiotomy 09/2012