Cecilia Giunta Selected Research

Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)

1/2021	COL1-Related Disorders: Case Report and Review of Overlapping Syndromes.
1/2020	The novel missense mutation Met48Lys in FKBP22 changes its structure and functions.
11/2016	Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
1/2016	Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.
12/2012	Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome.
2/2012	Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
6/2011	Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.
12/2010	Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.
6/2008	Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.
5/2008	The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure.

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Cecilia Giunta Research Topics

Disease

12	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 01/2021 - 03/2005
5	Osteogenesis Imperfecta (Lobstein Disease) 01/2021 - 08/2012
3	Joint Instability (Joint Laxity) 01/2021 - 02/2012
2	Hearing Loss (Hearing Impairment) 01/2020 - 02/2012
2	Muscle Hypotonia (Hypotonia) 01/2020 - 02/2012
2	Osteoporosis 08/2012 - 09/2008
1	Congenital Abnormalities (Deformity) 01/2021
1	Aortic Rupture 01/2020
1	Cicatrix (Scar) 10/2019
1	Epidermolysis Bullosa Dystrophica (Dystrophic Epidermolysis Bullosa) 01/2019
1	Autosomal Recessive Type VII Ehlers-Danlos Syndrome 01/2016
1	Developmental Bone Diseases (Bone Dysplasia) 01/2016
1	Accidental Injuries 08/2015
1	Methylenetetrahydrofolate reductase deficiency 06/2015
1	Hyperammonemia 09/2012
1	Cutis Laxa 09/2012
1	Bone Fractures (Bone Fracture) 08/2012
1	Scoliosis 02/2012
1	Muscular Diseases (Myopathy) 02/2012
1	Marfan Syndrome (Marfan's Syndrome) 12/2010
1	Loeys-Dietz Syndrome 12/2010
1	Refractive Errors (Refractive Error) 11/2008
1	Metabolic Bone Diseases (Osteopenia) 09/2008
1	Postmenopausal Osteoporosis 09/2008
1	Hyperparathyroidism 09/2008
1	Bone Resorption 09/2008
1	Hyperthyroidism 09/2008
1	Autosomal Dominant Type VII Ehlers-Danlos Syndrome 05/2008
1	Nevo syndrome 03/2005
1	Seizures (Absence Seizure) 11/2004

Drug/Important Bio-Agent (IBA)

4	2-Oxoglutarate 5-Dioxygenase Procollagen-Lysine (Lysyl Hydroxylase)IBA 01/2019 - 03/2005
3	CollagenIBA 01/2016 - 05/2008
3	pyridinolineIBA 08/2015 - 09/2008
2	alpha2 Subunit Collagen Type IIBA 01/2021 - 01/2020
2	Oxidoreductases (Dehydrogenase)IBA 06/2015 - 09/2012
1	Collagen Type I (Type I Collagen)IBA 01/2021
1	Fatty Acids (Saturated Fatty Acids)IBA 01/2021
1	FKBP22IBA 01/2020
1	Messenger RNA (mRNA)IBA 01/2020
1	Proteins (Proteins, Gene)FDA Link 01/2020
1	Tacrolimus Binding Proteins (FKBP)IBA 01/2020
1	tenascin XIBA 10/2019
1	Collagen Type VIIIBA 01/2019
1	Complement System Proteins (Complement)IBA 11/2016
1	EnzymesIBA 01/2016
1	ProcollagenIBA 01/2016
1	Biomarkers (Surrogate Marker)IBA 08/2015
1	5,10-methylenetetrahydrofolic acidIBA 06/2015
1	Folic Acid (Vitamin M)FDA LinkGeneric 06/2015
1	ZincIBA 12/2012
1	CitrullineIBA 09/2012
1	Proline (L-Proline)FDA Link 09/2012
1	Arginine (L-Arginine)FDA Link 09/2012
1	OrnithineIBA 09/2012
1	Procollagen Type IIBA 08/2012
1	Transforming Growth Factor-beta Type II ReceptorIBA 12/2010
1	Transforming Growth Factor-beta Type I ReceptorIBA 12/2010
1	deoxypyridinolineIBA 09/2008
1	Indicators and Reagents (Reagents)IBA 09/2008
1	zinc-binding protein (zinc binding protein)IBA 06/2008
1	Biotin (Vitamin H)FDA Link 11/2004

Therapy/Procedure

1	Corneal Transplantation (Keratoplasty) 11/2008
1	Therapeutics 11/2004