Fransiska Malfait Selected Research

Congenital Cortical Hyperostosis (Infantile Cortical Hyperostosis)

12/2021	Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen.
4/2007	Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.

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Fransiska Malfait Research Topics

Disease

20	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 05/2022 - 10/2004
10	Osteogenesis Imperfecta (Lobstein Disease) 10/2021 - 04/2007
5	Joint Instability (Joint Laxity) 01/2019 - 10/2012
3	Pain (Aches) 12/2021 - 12/2014
3	Autosomal Recessive Type VII Ehlers-Danlos Syndrome 01/2016 - 11/2004
2	Type IV Ehlers-Danlos Syndrome 05/2022 - 12/2021
2	Chronic Pain 12/2021 - 09/2017
2	Congenital Cortical Hyperostosis (Infantile Cortical Hyperostosis) 12/2021 - 04/2007
2	Cicatrix (Scar) 01/2019 - 10/2012
2	Rupture 10/2018 - 04/2007
2	Fatigue 01/2016 - 12/2014
2	Hearing Loss (Hearing Impairment) 10/2012 - 12/2011
2	Contracture 03/2011 - 11/2010
2	Hemorrhage 09/2009 - 12/2004
1	Stillbirth 10/2021
1	Muscular Diseases (Myopathy) 01/2020
1	Loeys-Dietz Syndrome 11/2019
1	Chronic Mucocutaneous Candidiasis 11/2019
1	Osteoporosis 01/2019
1	Epidermolysis Bullosa Dystrophica (Dystrophic Epidermolysis Bullosa) 01/2019
1	Aneurysm (Aneurysms) 10/2018
1	Cutis Laxa 01/2017
1	Musculoskeletal Abnormalities 11/2016
1	Hyperalgesia 06/2015
1	Autonomic Nervous System Diseases (Dysautonomia) 12/2014
1	type 1 Stickler syndrome 11/2014
1	Pseudoxanthoma Elasticum (Gronblad Strandberg Syndrome) 09/2014
1	Fanconi Syndrome (Syndrome, Fanconi) 09/2013
1	Cystinosis 09/2013
1	Wounds and Injuries (Trauma) 06/2013
1	Inborn Genetic Diseases (Disease, Hereditary) 03/2011
1	Craniofacial Abnormalities 11/2010
1	Neoplasms (Cancer) 01/2009
1	Atherosclerosis 01/2009
1	Arthritis (Polyarthritis) 01/2009
1	Ehlers-Danlos syndrome type 6 05/2005

Drug/Important Bio-Agent (IBA)

10	CollagenIBA 05/2022 - 12/2004
8	Collagen Type I (Type I Collagen)IBA 01/2021 - 04/2007
6	EnzymesIBA 01/2020 - 10/2004
5	Procollagen Type IIBA 12/2021 - 11/2004
5	Collagen Type V (Type V Collagen)IBA 10/2021 - 03/2008
4	alpha2 Subunit Collagen Type IIBA 01/2020 - 04/2007
3	Proteins (Proteins, Gene)FDA Link 10/2021 - 02/2009
3	2-Oxoglutarate 5-Dioxygenase Procollagen-Lysine (Lysyl Hydroxylase)IBA 01/2019 - 05/2005
2	Cysteine (L-Cysteine)FDA Link 12/2021 - 04/2007
2	Analgesics (Analgesic Drugs)IBA 12/2021 - 09/2017
2	Arginine (L-Arginine)FDA Link 12/2021 - 04/2007
2	Nonsense Codon (Nonsense Mutation)IBA 10/2021 - 10/2004
2	Dermatan SulfateIBA 01/2020 - 05/2015
2	Collagen Type III (Type III Collagen)IBA 10/2018 - 09/2009
2	4-amino-4'-hydroxylaminodiphenylsulfone (HADS)IBA 01/2016 - 12/2014
2	ProcollagenIBA 01/2016 - 11/2004
2	Peptide Hydrolases (Proteases)FDA Link 05/2013 - 11/2004
1	Glutamic Acid (Glutamate)FDA Link 05/2022
1	Lysine (L-Lysine)FDA Link 05/2022
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 05/2022
1	Racemases and Epimerases (Epimerases and Racemases)IBA 01/2020
1	beta-cyclodextrin tetradecasulfate (CTDS)IBA 11/2019
1	Transforming Growth Factor-beta Type II ReceptorIBA 11/2019
1	Carrier Proteins (Binding Protein)IBA 01/2019
1	Collagen Type VIIIBA 01/2019
1	Adenosine Triphosphatases (ATPase)IBA 01/2017
1	Hypnotics and Sedatives (Sedatives)IBA 01/2016
1	propylene diquat (PDQ(+))IBA 12/2014
1	glutamyl carboxylase (gamma-glutamyl carboxylase)IBA 09/2014
1	Blood Coagulation Factors (Coagulation Factor)IBA 09/2014
1	Vitamin K FDA Link 09/2014
1	Cysteamine (Mercaptamine)FDA Link 09/2013
1	CopperIBA 09/2013
1	Protein-Lysine 6-Oxidase (Lysyl Oxidase)IBA 09/2013
1	Copper Transport ProteinsIBA 09/2013
1	Glycoproteins (Glycoprotein)IBA 08/2013
1	tenascin XIBA 08/2013
1	GlycosaminoglycansIBA 06/2013
1	pyridinolineIBA 11/2010
1	Protein Sorting Signals (Signal Peptide)IBA 02/2009
1	Extracellular Matrix ProteinsIBA 01/2009
1	Fibrillar CollagensIBA 03/2008
1	Messenger RNA (mRNA)IBA 10/2004

Therapy/Procedure

1	Exercise Therapy (Therapy, Exercise) 05/2022
1	Physical Therapy Modalities (Physical Therapy Technique) 09/2017
1	Pain Management 06/2015
1	Anesthesia 07/2014
1	Kidney Transplantation 09/2013
1	Renal Dialysis (Hemodialysis) 09/2013