Carmen Ayuso Selected Research

Retinaldehyde (Retinal)

11/2023	The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes.
11/2023	TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
1/2023	ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.
11/2022	Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders.
1/2021	Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
1/2020	Retinal Structure in RPE65-Associated Retinal Dystrophy.
1/2018	Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
11/2013	Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
5/2010	Retinitis pigmentosa and allied conditions today: a paradigm of translational research.
2/2010	Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

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Carmen Ayuso Research Topics

Disease

23	Hepatocellular Carcinoma (Hepatoma) 04/2022 - 05/2002
20	Retinitis Pigmentosa (Pigmentary Retinopathy) 11/2023 - 05/2003
14	Neoplasms (Cancer) 04/2022 - 03/2003
6	Fibrosis (Cirrhosis) 04/2022 - 01/2008
6	Retinal Degeneration 04/2017 - 12/2005
5	Usher Syndromes (Usher Syndrome) 11/2018 - 07/2002
4	Cone-Rod Dystrophies 01/2023 - 01/2013
4	Microphthalmos 01/2022 - 09/2019
4	Glaucoma 10/2020 - 01/2009
4	Familial Exudative Vitreoretinopathies 07/2015 - 09/2005
3	Retinal Diseases 01/2024 - 01/2019
3	Stargardt Disease 01/2023 - 09/2009
3	Aniridia 01/2023 - 01/2017
3	COVID-19 01/2023 - 01/2021
3	Portal Hypertension 04/2022 - 06/2003
3	Vision Disorders (Hemeralopia) 01/2021 - 11/2018
3	Cataract (Cataracts) 01/2020 - 01/2018
3	Retinal Dystrophies 01/2020 - 12/2005
3	Macular Degeneration (Age-Related Maculopathy) 04/2011 - 11/2005
2	Cardiovascular Diseases (Cardiovascular Disease) 01/2024 - 06/2006
2	Blindness (Hysterical Blindness) 11/2023 - 02/2010
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2023 - 01/2022
2	Inflammation (Inflammations) 12/2021 - 03/2017
2	Hepatitis C 02/2021 - 01/2019
2	Alstrom Syndrome 01/2021 - 08/2015
2	Leber Congenital Amaurosis 12/2018 - 01/2013
2	Hearing Loss (Hearing Impairment) 11/2018 - 09/2017
2	Craniofacial Abnormalities 11/2017 - 04/2017
2	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy) 01/2016 - 07/2009
2	Deafness (Deaf Mutism) 12/2014 - 02/2008
2	Optic Atrophy 12/2014 - 02/2008
2	Huntington Disease (Huntington's Disease) 08/2012 - 09/2008
2	Optic Nerve Diseases (Optic Neuropathy) 07/2009 - 02/2008
2	Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy) 07/2009 - 06/2003
2	Aneuploidy (Aneuploid) 08/2007 - 04/2006
2	Spontaneous Abortion (Miscarriage) 08/2007 - 05/2005
2	Pancreatic Neoplasms (Pancreatic Cancer) 12/2006 - 03/2004
1	Budd-Chiari Syndrome (Budd Chiari Syndrome) 04/2024
1	Muscular Diseases (Myopathy) 04/2024
1	Respiratory Insufficiency (Respiratory Failure) 04/2024
1	Atherosclerosis 01/2024
1	Snijders Blok-Campeau syndrome 01/2023
1	Eye Diseases (Eye Disease) 12/2022
1	Cone Dystrophy 11/2022
1	Neurofibromatosis 1 (Neurofibromatosis Type I) 11/2022
1	Focal Nodular Hyperplasia 11/2021
1	Liver Cell Adenoma (Hepatocellular Adenoma) 11/2021
1	Body Weight (Weight, Body) 01/2021
1	Exocrine Pancreatic Insufficiency 01/2021

Drug/Important Bio-Agent (IBA)

16	Proteins (Proteins, Gene)FDA Link 01/2021 - 04/2006
15	Retinaldehyde (Retinal)IBA 11/2023 - 09/2005
12	DNA (Deoxyribonucleic Acid)IBA 01/2023 - 03/2005
6	gadolinium ethoxybenzyl DTPA FDA Link 04/2024 - 05/2006
5	Sorafenib (BAY 43-9006)FDA Link 01/2021 - 12/2013
4	Mitochondrial DNA (mtDNA)IBA 04/2024 - 02/2008
4	Transcription Factors (Transcription Factor)IBA 01/2022 - 01/2018
4	GTP Phosphohydrolases (GTPases)IBA 10/2021 - 06/2003
4	c-Mer Tyrosine KinaseIBA 01/2021 - 12/2007
3	Biomarkers (Surrogate Marker)IBA 01/2023 - 01/2021
3	retinol dehydrogenaseIBA 11/2014 - 12/2005
2	ATP-Binding Cassette Transporters (ABC Transporters)IBA 01/2023 - 12/2019
2	Antiviral Agents (Antivirals)IBA 04/2022 - 01/2019
2	4-(3-chlorophenylsulfanyl)piperidineIBA 04/2022 - 01/2022
2	GadoliniumIBA 01/2022 - 03/2015
2	Interleukin-10 (Interleukin 10)IBA 12/2021 - 06/2011
2	EnzymesIBA 01/2021 - 12/2014
2	Nonsense Codon (Nonsense Mutation)IBA 11/2018 - 11/2014
2	Metformin (Glucophage)FDA LinkGeneric 03/2017 - 01/2017
2	RNA Splicing FactorsIBA 01/2014 - 05/2003
2	thiamine triphosphorate (TTP)IBA 12/2013 - 05/2010
2	RNA Precursors (Precursor, mRNA)IBA 05/2011 - 05/2003
2	Dynamins (Dynamin)IBA 02/2008 - 06/2003
2	Doxorubicin (Adriamycin)FDA LinkGeneric 03/2007 - 05/2002
1	oxidized low density lipoproteinIBA 01/2024
1	5' Untranslated Regions (5' UTR)IBA 01/2024
1	LDL Lipoproteins (beta Lipoproteins)IBA 01/2024
1	Apolipoproteins E (ApoE)IBA 01/2024
1	ApolipoproteinsIBA 01/2024
1	LDL CholesterolIBA 01/2024
1	Carrier Proteins (Binding Protein)IBA 01/2023
1	polyglutamineIBA 01/2023
1	PAX6 Transcription FactorIBA 01/2023
1	AndrogensIBA 01/2023
1	Histones (Histone)IBA 01/2023
1	DNA HelicasesIBA 01/2023
1	Androgen Receptors (Androgen Receptor)IBA 01/2023
1	Dichlorodiphenyldichloroethane (DDD)IBA 12/2022
1	PENTAIBA 01/2022
1	diethylenetriamineIBA 01/2022
1	Acetic Acid (Vinegar)FDA LinkGeneric 01/2022
1	Messenger RNA (mRNA)IBA 12/2021
1	Immune Checkpoint InhibitorsIBA 02/2021
1	NivolumabIBA 02/2021
1	Bevacizumab (Avastin)FDA Link 01/2021
1	Oxygen (Dioxygen)IBA 01/2021

Therapy/Procedure

11	Therapeutics 12/2021 - 07/2008
3	Liver Transplantation 11/2021 - 06/2003
3	Ligation 01/2017 - 04/2006
1	Artificial Respiration (Mechanical Ventilation) 04/2024
1	Immunotherapy 02/2021