Cristina Has Selected Research

Junctional Epidermolysis Bullosa (Epidermolysis Bullosa Letalis)

1/2022	Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa.
1/2021	Effect of small molecule eRF3 degraders on premature termination codon readthrough.
1/2019	Amino acid substitution in the C-terminal domain of collagen XVII reduces laminin-332 interaction causing mild skin fragility with atrophic scarring.
11/2018	CRISPR/Cas9-Mediated In Situ Correction of LAMB3 Gene in Keratinocytes Derived from a Junctional Epidermolysis Bullosa Patient.
1/2018	Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine.
1/2017	Amino acid duplication in the coiled-coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa.
11/2016	Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa.
7/2015	Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome.
3/2014	The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.
1/2013	Laminin 332 in junctional epidermolysis bullosa.

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Cristina Has Research Topics

Disease

12	Junctional Epidermolysis Bullosa (Epidermolysis Bullosa Letalis) 01/2022 - 12/2005
12	Epidermolysis Bullosa 01/2022 - 04/2007
10	Epidermolysis Bullosa Dystrophica (Dystrophic Epidermolysis Bullosa) 05/2022 - 03/2011
8	Epidermolysis Bullosa Simplex (Epidermolysis Bullosa Herpetiformis Dowling Meara) 12/2022 - 08/2006
6	Poikiloderma of Kindler 06/2017 - 01/2004
5	Inborn Genetic Diseases (Disease, Hereditary) 01/2021 - 07/2014
4	Wounds and Injuries (Trauma) 05/2022 - 01/2017
3	Atrophy 01/2019 - 10/2009
3	Neoplasms (Cancer) 01/2019 - 02/2016
3	Interstitial Lung Diseases (Interstitial Lung Disease) 12/2018 - 07/2015
3	Nephrotic Syndrome (Syndrome, Nephrotic) 12/2018 - 07/2015
3	Skin Diseases (Skin Disease) 01/2017 - 04/2012
2	Cardiomyopathies (Cardiomyopathy) 01/2022 - 03/2015
2	Incontinentia Pigmenti (Bloch Sulzberger Syndrome) 01/2022 - 11/2018
2	Cicatrix (Scar) 01/2021 - 01/2019
2	Blister (Bulla) 01/2019 - 12/2006
2	Fibrosis (Cirrhosis) 01/2018 - 04/2011
2	Melanoma (Melanoma, Malignant) 06/2017 - 10/2009
2	Inflammation (Inflammations) 12/2016 - 04/2011
2	Palmoplantar Keratoderma (Keratosis Palmaris et Plantaris) 03/2015 - 05/2011
2	Skin Neoplasms (Skin Cancer) 01/2013 - 11/2011
1	Systemic Mastocytosis 12/2022
1	Acute Myeloid Leukemia (Acute Myelogenous Leukemia) 12/2022
1	Squamous Cell Neoplasms (Squamous Cell Cancer) 05/2022
1	Epidermolysis Bullosa Acquisita (Acquired Epidermolysis Bullosa) 01/2022
1	Disease Progression 01/2022
1	Mucopolysaccharidosis I (Hurler Syndrome) 01/2021
1	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 01/2021
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2021
1	Autosomal Recessive Epidermolysis Bullosa Simplex 10/2019
1	Cysts 10/2019
1	Squamous Cell Carcinoma (Epidermoid Carcinoma) 01/2019
1	Liver Diseases (Liver Disease) 11/2018
1	Ciliopathies 11/2018
1	Squamous Cell Carcinoma of Head and Neck 01/2018
1	Acrodermatitis enteropathica 01/2018
1	Bullous Pemphigoid (Pemphigoid) 01/2017
1	Ichthyosis (Xeroderma) 01/2015
1	Ectodermal Dysplasia-Skin Fragility Syndrome 12/2014
1	Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma) 05/2014
1	Nevus (Nevi) 03/2014
1	Skin Manifestations 03/2014
1	Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 03/2014
1	Hypersensitivity (Allergy) 01/2013
1	Autoimmune Diseases (Autoimmune Disease) 01/2013
1	Heart Diseases (Heart Disease) 05/2011

Drug/Important Bio-Agent (IBA)

17	Proteins (Proteins, Gene)FDA Link 01/2022 - 12/2006
6	Collagen Type XVIIIBA 01/2019 - 12/2005
6	IntegrinsIBA 12/2018 - 04/2012
5	CollagenIBA 01/2022 - 01/2018
5	Nonsense Codon (Nonsense Mutation)IBA 01/2022 - 01/2004
3	Keratins (Keratin)IBA 12/2022 - 04/2010
3	Collagen Type VIIIBA 01/2019 - 03/2011
3	Biological ProductsIBA 01/2018 - 10/2009
2	RNA (Ribonucleic Acid)IBA 01/2022 - 01/2018
2	Keratin-5 (Keratin 5)IBA 10/2019 - 01/2019
2	KalininIBA 11/2018 - 01/2013
2	Keratin-14 (Keratin 14)IBA 05/2018 - 08/2006
2	Amino Acids FDA Link 01/2017 - 01/2017
2	AntigensIBA 01/2017 - 01/2016
2	SteroidsIBA 03/2014 - 05/2002
2	Glycine (Aminoacetic Acid)FDA LinkGeneric 03/2011 - 01/2006
1	Phosphotransferases (Kinase)IBA 12/2022
1	midostaurinIBA 12/2022
1	amsonic acid (DAS)IBA 01/2022
1	UbiquitinIBA 01/2022
1	Proteasome Endopeptidase Complex (Proteasome)IBA 01/2022
1	Gentamicins (Gentamicin)FDA LinkGeneric 01/2022
1	Ligases (Synthetase)IBA 01/2022
1	CC-885IBA 01/2021
1	CC-90009IBA 01/2021
1	AminoglycosidesIBA 01/2021
1	Phosphoric Diester Hydrolases (Phosphodiesterases)IBA 10/2019
1	delta proteinIBA 10/2019
1	DNA (Deoxyribonucleic Acid)IBA 10/2019
1	Phospholipase C deltaIBA 10/2019
1	2-Oxoglutarate 5-Dioxygenase Procollagen-Lysine (Lysyl Hydroxylase)IBA 01/2019
1	ON 01910IBA 01/2019
1	NF-kappa B (NF-kB)IBA 11/2018
1	Messenger RNA (mRNA)IBA 01/2018
1	ProteomeIBA 01/2018
1	APOBEC DeaminasesIBA 01/2018
1	ZincIBA 01/2018
1	BiglycanIBA 06/2017
1	amlexanox (Aphthasol)FDA Link 01/2017
1	betulinIBA 01/2017
1	AntioxidantsIBA 12/2016
1	Desmoplakins (Desmoplakin)IBA 03/2015
1	Immunoglobulin E (IgE)IBA 01/2015
1	Keratin-10IBA 05/2014
1	Therapeutic UsesIBA 03/2014
1	CholesterolIBA 03/2014
1	Simvastatin (Zocor)FDA LinkGeneric 03/2014
1	Ointments (Pastes)IBA 03/2014
1	Oxidoreductases (Dehydrogenase)IBA 03/2014
1	NAD (NADH)IBA 03/2014

Therapy/Procedure

12	Therapeutics 12/2022 - 11/2012
2	Precision Medicine 01/2018 - 01/2017
1	Liver Transplantation 11/2018
1	Palliative Care (Palliative Therapy) 11/2016