Carlos Aguilar
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View article: Cross-species validation of a human age-related hearing loss candidate KLHDC7B as essential for mammalian hearing
Cross-species validation of a human age-related hearing loss candidate KLHDC7B as essential for mammalian hearing Open
Although age-related hearing loss (ARHL) is the most common sensory loss in older adults, underlying mechanisms remain unclear. Recent genome-wide association studies (GWAS) linked variation in several genes with ARHL risk, including KLHDC…
View article: Implementation of Medicalholodeck® for Augmented Reality Surgical Navigation in Microsurgical Mandibular Reconstruction: Enhanced Vessel Identification
Implementation of Medicalholodeck® for Augmented Reality Surgical Navigation in Microsurgical Mandibular Reconstruction: Enhanced Vessel Identification Open
Mandibular reconstruction with the fibula free flap is the gold standard for large defects, with virtual surgical planning becoming integral to the process. The localization and dissection of critical vessels, such as the recipient vessels…
View article: Intraoperative Holographic Navigation Using Augmented Reality for Facial Artery and Peroneal Perforator Identification in Microsurgical Mandibular Reconstruction
Intraoperative Holographic Navigation Using Augmented Reality for Facial Artery and Peroneal Perforator Identification in Microsurgical Mandibular Reconstruction Open
Mandibular reconstruction with the fibula free flap is the gold standard for large defects, with virtual surgical planning becoming integral to the process. The localization and dissection of critical vessels, such as the recipient vessels…
View article: C57BL/6-derived mice and the Cdh23 allele – Background matters
C57BL/6-derived mice and the Cdh23 allele – Background matters Open
C57BL/6-derived mice are the most utilised mice in biomedical research, and yet actually there is no such thing as a generic C57BL/6 mouse. Instead, there are more than 150 C57BL/6-derived sub-strains recognised by the Mouse Genome Informa…
View article: KLHDC7B, a novel gene associated with age-related hearing loss in humans, is required for the maintenance of hearing in mice
KLHDC7B, a novel gene associated with age-related hearing loss in humans, is required for the maintenance of hearing in mice Open
Background Age-related hearing loss (ARHL) is the most common sensory loss in older adults, but the underlying pathological mechanisms remain unclear. Recent genome wide association studies (GWAS) have linked variation in a large number of…
View article: Novel risk loci for COVID-19 hospitalization among admixed American populations
Novel risk loci for COVID-19 hospitalization among admixed American populations Open
The genetic basis of severe COVID-19 has been thoroughly studied, and many genetic risk factors shared between populations have been identified. However, reduced sample sizes from non-European groups have limited the discovery of populatio…
View article: Novel risk loci for COVID-19 hospitalization among admixed American populations
Novel risk loci for COVID-19 hospitalization among admixed American populations Open
The genetic basis of severe COVID-19 has been thoroughly studied, and many genetic risk factors shared between populations have been identified. However, reduced sample sizes from non-European groups have limited the discovery of populatio…
View article: Perceptions of Pedagogical Effectiveness of The Workshop on The Use of Taptana Cañari For Mathematics Teaching: A Comparative Analysis in Different Educational Contexts
Perceptions of Pedagogical Effectiveness of The Workshop on The Use of Taptana Cañari For Mathematics Teaching: A Comparative Analysis in Different Educational Contexts Open
Objective: The aim of this study is to analyze perceptions of pedagogical effectiveness regarding the workshop on the use of Taptana Cañari for teaching mathematics in diverse educational settings. Theoretical Framework: In Ecuador, mathem…
View article: PTVR – A software in Python to make virtual reality experiments easier to build and more reproducible
PTVR – A software in Python to make virtual reality experiments easier to build and more reproducible Open
Researchers increasingly use virtual reality (VR) to perform behavioral experiments, especially in vision science. These experiments are usually programmed directly in so-called game engines that are extremely powerful. However, this proce…
View article: Reviewer #2 (Public Review): Novel risk loci for COVID-19 hospitalization among admixed American populations
Reviewer #2 (Public Review): Novel risk loci for COVID-19 hospitalization among admixed American populations Open
The genetic basis of severe COVID-19 has been thoroughly studied and many genetic risk factors shared between populations have been identified. However, reduced sample sizes from non-European groups have limited the discovery of population…
View article: Novel risk loci for COVID-19 hospitalization among admixed American populations
Novel risk loci for COVID-19 hospitalization among admixed American populations Open
The genetic basis of severe COVID-19 has been thoroughly studied and many genetic risk factors shared between populations have been identified. However, reduced sample sizes from non-European groups have limited the discovery of population…
View article: Reviewer #1 (Public Review): Novel risk loci for COVID-19 hospitalization among admixed American populations
Reviewer #1 (Public Review): Novel risk loci for COVID-19 hospitalization among admixed American populations Open
The genetic basis of severe COVID-19 has been thoroughly studied and many genetic risk factors shared between populations have been identified. However, reduced sample sizes from non-European groups have limited the discovery of population…
View article: Reviewer #3 (Public Review): Novel risk loci for COVID-19 hospitalization among admixed American populations
Reviewer #3 (Public Review): Novel risk loci for COVID-19 hospitalization among admixed American populations Open
The genetic basis of severe COVID-19 has been thoroughly studied and many genetic risk factors shared between populations have been identified. However, reduced sample sizes from non-European groups have limited the discovery of population…
View article: Novel risk loci for COVID-19 hospitalization among admixed American populations
Novel risk loci for COVID-19 hospitalization among admixed American populations Open
The genetic basis of severe COVID-19 has been thoroughly studied, and many genetic risk factors shared between populations have been identified. However, reduced sample sizes from non-European groups have limited the discovery of populatio…
View article: Climate Equality: A planet for the 99%
Climate Equality: A planet for the 99% Open
The world faces twin crises of climate breakdown and runaway inequality. The richest people, corporations and countries are destroying the world with their huge carbon emissions. Meanwhile, people living in poverty, those experiencing marg…
View article: Absence of Embigin accelerates hearing loss and causes sub-viability, brain and heart defects in C57BL/6N mice due to interaction with Cdh23
Absence of Embigin accelerates hearing loss and causes sub-viability, brain and heart defects in C57BL/6N mice due to interaction with Cdh23 Open
Mouse studies continue to help elaborate upon the genetic landscape of mammalian disease and the underlying molecular mechanisms. Here, we have investigated an Embigintm1b allele maintained on a standard C57BL/6N background and on a co-iso…
View article: Novel risk loci for COVID-19 hospitalization among admixed American populations
Novel risk loci for COVID-19 hospitalization among admixed American populations Open
The genetic basis of severe COVID-19 has been thoroughly studied, and many genetic risk factors shared between populations have been identified. However, reduced sample sizes from non-European groups have limited the discovery of populatio…
View article: Neuroplastin genetically interacts with Cadherin 23 and the encoded isoform Np55 is sufficient for cochlear hair cell function and hearing
Neuroplastin genetically interacts with Cadherin 23 and the encoded isoform Np55 is sufficient for cochlear hair cell function and hearing Open
Mammalian hearing involves the mechanoelectrical transduction (MET) of sound-induced fluid waves in the cochlea. Essential to this process are the specialised sensory cochlear cells, the inner (IHCs) and outer hair cells (OHCs). While gene…
View article: Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation
Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation Open
Peroxisomal fatty acid α-oxidation is an essential pathway for the degradation of β-carbon methylated fatty acids such as phytanic acid. One enzyme in this pathway is 2-hydroxyacyl CoA lyase (HACL1), which is responsible for the cleavage o…
View article: <i>Neuroplastin</i> genetically interacts with <i>Cadherin 23</i> and the encoded isoform Np55 is sufficient for cochlear hair cell function and hearing
<i>Neuroplastin</i> genetically interacts with <i>Cadherin 23</i> and the encoded isoform Np55 is sufficient for cochlear hair cell function and hearing Open
Mammalian hearing involves the mechanoelectrical transduction (MET) of sound-induced fluid waves in the cochlea. Essential to this process are the specialised sensory cochlear cells, the inner (IHCs) and outer hair cells (OHCs). While gene…
View article: Myosin-driven Nucleation of Actin Filaments Drives Stereocilia Development Critical for Hearing
Myosin-driven Nucleation of Actin Filaments Drives Stereocilia Development Critical for Hearing Open
SUMMARY The assembly and maintenance of actin-based mechanosensitive stereocilia in the cochlea is critical for lifelong hearing. Myosin-15 (MYO15) is hypothesized to modulate stereocilia height by trafficking actin regulatory proteins to …
View article: Forward genetics identifies a novel sleep mutant with sleep state inertia and REM sleep deficits
Forward genetics identifies a novel sleep mutant with sleep state inertia and REM sleep deficits Open
A noninvasive sleep screen uncovers a Vamp2 mouse mutation with synaptic deficits underlying substantial sleep disturbances.
View article: Human embryonic stem cells-derived dopaminergic neurons transplanted in parkinsonian monkeys recover dopamine levels and motor behavior
Human embryonic stem cells-derived dopaminergic neurons transplanted in parkinsonian monkeys recover dopamine levels and motor behavior Open
Human embryonic stem cells (hESCs) differentiate into specialized cells, including midbrain dopaminergic neurons (DAN). Non-human primates (NHPs) injected with 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine develop some alterations observed …