Roberta Benfante Selected Research

Congenital central hypoventilation syndrome

4/2022	Etonogestrel Administration Reduces the Expression of PHOX2B and Its Target Genes in the Solitary Tract Nucleus.
1/2022	Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene.
1/2019	Molecular insights into the role of the polyalanine region in mediating PHOX2B aggregation.
6/2016	Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear Import.
2/2013	Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome.

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Roberta Benfante Research Topics

Disease

5	Congenital central hypoventilation syndrome 04/2022 - 02/2013
4	Neuroblastoma 01/2018 - 01/2005
3	Nervous System Diseases (Neurological Disorders) 04/2022 - 07/2006
3	Parkinson Disease (Parkinson's Disease) 03/2018 - 07/2006
2	Glioblastoma (Glioblastoma Multiforme) 01/2022 - 01/2021
2	Neurodegenerative Diseases (Neurodegenerative Disease) 04/2021 - 08/2012
2	Alzheimer Disease (Alzheimer's Disease) 04/2021 - 07/2006
2	Neoplasms (Cancer) 01/2021 - 09/2008
2	Hypertension (High Blood Pressure) 11/2013 - 01/2011
1	Hypoventilation 04/2022
1	Hypercapnia 04/2022
1	Cognitive Dysfunction 04/2021
1	Neuroinflammatory Diseases 04/2021
1	Dyskinesias (Dyskinesia) 03/2018
1	Adenocarcinoma 01/2018
1	Lung Neoplasms (Lung Cancer) 01/2018
1	Neoplasm Metastasis (Metastasis) 01/2018
1	Epilepsy (Aura) 01/2017
1	Inflammation (Inflammations) 01/2013
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 08/2012
1	Hypoxia (Hypoxemia) 01/2011
1	Atherosclerosis 01/2011
1	Schizophrenia (Dementia Praecox) 07/2006

Drug/Important Bio-Agent (IBA)

3	polyalanineIBA 01/2022 - 02/2013
2	NBPhox proteinIBA 04/2022 - 01/2019
2	Choline (Choline Chloride)IBA 04/2021 - 01/2021
2	Nicotinic Receptors (Nicotinic Acetylcholine Receptor)IBA 01/2021 - 07/2006
2	Nicotine FDA Link 01/2021 - 01/2018
2	Tretinoin (Retinoic Acid)FDA LinkGeneric 03/2016 - 09/2008
1	Ammonium CompoundsIBA 01/2022
1	LigandsIBA 01/2022
1	StilbenesIBA 01/2022
1	Acetylcholine (Acetylcholine Chloride)FDA Link 04/2021
1	EsterasesIBA 04/2021
1	Cholinergic Agents (Cholinergics)IBA 04/2021
1	Temozolomide (Temodar)FDA LinkGeneric 01/2021
1	Proteins (Proteins, Gene)FDA Link 01/2019
1	Opioid Analgesics (Opioids)IBA 03/2018
1	Desogestrel FDA LinkGeneric 01/2018
1	Cholinergic ReceptorsIBA 01/2018
1	etonogestrel (Implanon)FDA Link 01/2018
1	SmokeIBA 01/2018
1	CarcinogensIBA 01/2018
1	Peptides (Polypeptides)IBA 01/2018
1	Progesterone FDA LinkGeneric 01/2018
1	Anticonvulsants (Antiepileptic Drugs)IBA 01/2017
1	Alanine (L-Alanine)FDA Link 06/2016
1	Homeodomain Proteins (Proteins, Homeobox)IBA 03/2016
1	Tryptophan HydroxylaseIBA 01/2016
1	Nitric Oxide Synthase Type III (Endothelial Nitric Oxide Synthase)IBA 11/2013
1	Transcription Factors (Transcription Factor)IBA 11/2013
1	GhrelinIBA 01/2013
1	Glucose (Dextrose)FDA LinkGeneric 01/2013
1	Hormones (Hormone)IBA 01/2013
1	Proteasome Endopeptidase Complex (Proteasome)IBA 08/2012
1	Nitric Oxide (Nitrogen Monoxide)FDA Link 01/2011
1	CatecholaminesIBA 09/2008
1	Ribonucleases (Ribonuclease)IBA 01/2005