Fernando Santos-Simarro Selected Research

Potassium

1/2019

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.

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Fernando Santos-Simarro Research Topics

Disease

3	Neurodevelopmental Disorders 11/2022 - 01/2021
2	Achondroplasia 01/2023 - 01/2022
2	Intellectual Disability (Idiocy) 11/2022 - 01/2022
2	Craniosynostoses (Craniosynostosis) 01/2022 - 11/2017
2	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2021 - 12/2015
1	Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi) 03/2024
1	Carcinogenesis 10/2023
1	Noonan Syndrome (Female Pseudo-Turner Syndrome) 07/2023
1	Gliosis 03/2023
1	Ganglion Cysts (Ganglion) 01/2023
1	Clark-Baraitser syndrome 11/2022
1	Myopia 04/2022
1	Retinal Dystrophies 04/2022
1	Acrocephalosyndactylia (Apert Syndrome) 01/2022
1	Floating-harbor syndrome 01/2021
1	Cataract (Cataracts) 01/2021
1	Necrosis 01/2020
1	Hypertrichosis 01/2019
1	Palmoplantar Keratoderma (Keratosis Palmaris et Plantaris) 01/2019
1	Polyuria 01/2019
1	Nephrogenic Diabetes Insipidus 01/2019
1	Gingival Overgrowth 01/2019
1	Channelopathies 01/2019
1	Epilepsy (Aura) 01/2019
1	Marshall-Smith syndrome 01/2018
1	Blepharo-cheilo-dontic syndrome 01/2018
1	CLAPO Syndrome 01/2018
1	Persistent Fetal Circulation Syndrome 05/2016
1	Hereditary Nephritis (Alport Syndrome) 01/2012

Drug/Important Bio-Agent (IBA)

7	Proteins (Proteins, Gene)FDA Link 03/2024 - 01/2012
2	Type 3 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 3)IBA 01/2023 - 01/2022
2	DNA (Deoxyribonucleic Acid)IBA 01/2021 - 01/2018
1	Adenosine Triphosphate (ATP)IBA 10/2023
1	RNA (Ribonucleic Acid)IBA 10/2023
1	RNA Helicases (RNA Helicase)IBA 10/2023
1	Human Growth Hormone (Saizen)FDA LinkGeneric 07/2023
1	Coloring Agents (Dyes)IBA 03/2023
1	Periodic AcidIBA 03/2023
1	Retinaldehyde (Retinal)IBA 01/2023
1	Biomarkers (Surrogate Marker)IBA 11/2022
1	Thyroid Hormone Receptors (Thyroid Hormone Receptor)IBA 11/2022
1	ElementsIBA 11/2022
1	ethanoxyhexamercarbideIBA 04/2022
1	5' Untranslated Regions (5' UTR)IBA 01/2022
1	Glutamine (L-Glutamine)FDA Link 01/2022
1	Tyrosine Kinase InhibitorsIBA 01/2022
1	infigratinibIBA 01/2022
1	Monomeric GTP-Binding ProteinsIBA 01/2020
1	Mitogen-Activated Protein KinasesIBA 01/2020
1	Arginine Vasopressin (Argipressin)IBA 01/2019
1	PotassiumIBA 01/2019
1	Cadherins (E-Cadherin)IBA 01/2018
1	CateninsIBA 01/2018
1	Codon (Codons)IBA 01/2018
1	Fibroblast Growth Factor Receptors (Fibroblast Growth Factor Receptor)IBA 11/2017
1	Long Noncoding RNAIBA 05/2016
1	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 12/2015
1	UbiquitinIBA 12/2015
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 01/2012
1	Collagen Type IV (Type IV Collagen)IBA 01/2012
1	Valine (L-Valine)FDA Link 01/2012

Therapy/Procedure

1	Sutures (Suture) 01/2022
1	Therapeutics 01/2022