Carlo Rivolta Selected Research

Proteins (Proteins, Gene)

3/2024	Fine-tuning FAM161A gene augmentation therapy to restore retinal function.
1/2021	New variants and in silico analyses in GRK1 associated Oguchi disease.
1/2021	CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels.
1/2019	Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice.
1/2018	A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.
9/2016	Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
6/2015	Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.
1/2014	Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.
12/2012	FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.
4/2012	Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome.

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Carlo Rivolta Research Topics

Disease

23	Retinitis Pigmentosa (Pigmentary Retinopathy) 03/2024 - 07/2006
8	Retinal Degeneration 01/2020 - 12/2006
4	Neoplasms (Cancer) 03/2022 - 04/2012
4	Melanoma (Melanoma, Malignant) 03/2022 - 04/2011
3	Blindness (Hysterical Blindness) 11/2023 - 06/2015
3	Retinal Dystrophies 10/2022 - 05/2015
3	Ciliopathies 06/2021 - 12/2012
3	Usher Syndromes (Usher Syndrome) 09/2020 - 01/2013
2	Retinal Diseases 01/2024 - 04/2015
2	Macular Degeneration (Age-Related Maculopathy) 01/2022 - 01/2019
2	congenital stationary Night blindness 01/2022 - 01/2021
2	Cone-Rod Dystrophies 01/2021 - 01/2013
2	Inborn Genetic Diseases (Disease, Hereditary) 12/2016 - 06/2011
2	Hypertension (High Blood Pressure) 11/2013 - 02/2012
1	Herpes Simplex Encephalitis (Herpes Encephalitis) 05/2024
1	Brain Diseases (Brain Disorder) 12/2023
1	North Carolina type 1 retinal Macular dystrophy 11/2022
1	Disease Susceptibility (Diathesis) 11/2022
1	1 Posterior Polymorphous Corneal Dystrophy 01/2022
1	Cataract (Cataracts) 01/2022
1	Retinal Detachment (Retinal Detachments) 01/2022
1	Agenesis of Cerebellar Vermis 06/2021
1	Hearing Loss (Hearing Impairment) 01/2021
1	Oguchi disease 01/2021
1	Genetic Predisposition to Disease (Genetic Predisposition) 09/2020
1	Atopic Dermatitis (Atopic Eczema) 09/2020
1	Cardiomyopathies (Cardiomyopathy) 01/2020
1	Encephalitis (Encephalitis, Rasmussen) 12/2019
1	Choroidal Neovascularization 01/2019
1	Male Infertility (Male Sterility) 01/2019
1	Vision Disorders (Hemeralopia) 01/2019
1	Nevus (Nevi) 01/2019
1	Fibrosarcoma 01/2018
1	Atrophy 01/2018
1	Scotoma (Scintillating Scotoma) 01/2018
1	Uveal melanoma 11/2016
1	Osteolysis 01/2016
1	Farber Lipogranulomatosis 01/2016
1	Vomiting 12/2015
1	Fever (Fevers) 12/2015
1	Dehydration (Water Stress) 12/2015
1	CODAS syndrome 11/2015
1	Peripheral Nervous System Diseases (PNS Diseases) 08/2015
1	Telangiectasis (Telangiectasia) 04/2015
1	Color Vision Defects (Color Blindness) 01/2013
1	Leber Congenital Amaurosis 01/2013
1	Choroideremia 01/2013
1	Multiple Hamartoma Syndrome (Cowden's Disease) 04/2012
1	Neurilemmoma (Schwannoma) 04/2012
1	Essential Hypertension 02/2012

Drug/Important Bio-Agent (IBA)

15	Retinaldehyde (Retinal)IBA 12/2023 - 06/2011
11	Proteins (Proteins, Gene)FDA Link 03/2024 - 06/2011
7	DNA (Deoxyribonucleic Acid)IBA 12/2016 - 08/2009
5	RNA Splicing FactorsIBA 01/2021 - 07/2006
5	EnzymesIBA 01/2021 - 08/2009
3	RNA Precursors (Precursor, mRNA)IBA 01/2021 - 05/2011
3	Messenger RNA (mRNA)IBA 04/2012 - 07/2006
2	5' Untranslated Regions (5' UTR)IBA 01/2024 - 01/2022
2	RNA (Ribonucleic Acid)IBA 12/2020 - 04/2011
2	NucleotidesIBA 09/2020 - 12/2006
2	Peptide Hydrolases (Proteases)FDA Link 12/2019 - 11/2015
2	Nonsense Codon (Nonsense Mutation)IBA 09/2010 - 04/2008
1	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 05/2024
1	GTP-Binding Proteins (G-Protein)IBA 12/2023
1	coenzyme Q10 (CoQ10)IBA 10/2022
1	Phosphotransferases (Kinase)IBA 03/2022
1	G-Protein-Coupled Receptor Kinase 1 (G Protein-Coupled Receptor Kinase 1)IBA 01/2021
1	Filaggrin ProteinsIBA 09/2020
1	Taurine FDA Link 01/2020
1	taurine transporterIBA 01/2020
1	LectinsIBA 12/2019
1	Complement System Proteins (Complement)IBA 12/2019
1	Mannose-Binding Lectin (Mannan-Binding Lectin)IBA 12/2019
1	Serine Proteases (Serine Protease)IBA 12/2019
1	Sirolimus (Rapamycin)FDA Link 01/2019
1	Phosphatidylinositol 3-Kinases (PI 3 Kinase)IBA 01/2019
1	Mineralocorticoid Receptors (Mineralocorticoid Receptor)IBA 01/2019
1	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 01/2019
1	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 01/2019
1	Mitogen-Activated Protein KinasesIBA 01/2019
1	Mutant Proteins (Protein, Mutant)IBA 01/2018
1	ArylsulfatasesIBA 01/2018
1	Odorant Receptors (Odorant Receptor)IBA 12/2016
1	Acid CeramidaseIBA 01/2016
1	Transaminases (Aminotransferases)IBA 12/2015
1	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 08/2015
1	Ligases (Synthetase)IBA 08/2015
1	Transfer RNA (tRNA)IBA 08/2015
1	Histidine-tRNA LigaseIBA 08/2015
1	Small Nuclear Ribonucleoproteins (snRNP)IBA 01/2014
1	Nitric Oxide Synthase Type III (Endothelial Nitric Oxide Synthase)IBA 11/2013
1	Transcription Factors (Transcription Factor)IBA 11/2013
1	TensinsIBA 04/2012
1	Neurofibromin 2 (Merlin)IBA 04/2012
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 04/2012
1	Nitric Oxide Synthase (NO Synthase)IBA 02/2012
1	ElementsIBA 09/2009

Therapy/Procedure

3	Therapeutics 11/2022 - 01/2019
1	Corneal Transplantation (Keratoplasty) 01/2022
1	Injections 01/2019