A5003682507- melanin and skin pigmentation
- Biochemical Analysis and Sensing Techniques
- Retinal Development and Disorders
- Cancer-related molecular mechanisms research
- MicroRNA in disease regulation
- Developmental Biology and Gene Regulation
- Olfactory and Sensory Function Studies
Instituto de Salud Carlos III
2021-2023
Centre for Biomedical Network Research on Rare Diseases
2021-2023
Centro Nacional de Biotecnología
2021-2023
Vanderbilt University Medical Center
2006
Universidad de Costa Rica
2006
Abstract The zebrafish mutation mother superior ( mos m188 ) leads to a depletion of neural crest (NC) derivatives including the craniofacial cartilage skeleton, peripheral nervous system (sympathetic neurons, dorsal root ganglia, enteric neurons), and pigment cells. loss is preceded by reduction in NC‐expressed transcription factors, snail1b, sox9b, sox10 , specific foxd3 expression NC progenitor We employed genetic linkage analysis physical mapping place on chromosome 6 vicinity gene....
Purpose: We aimed to generate and phenotype a mouse model of foveal hypoplasia, optic nerve decussation defects, anterior segment dysgenesis (FHONDA), rare disease associated with mutations in Slc38a8 that causes severe visual alterations similar albinism without affecting pigmentation. Methods: The FHONDA was generated clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 technology using an RNA guide targeting the Scl38a8 murine locus. resulting mice were backcrossed...
Summary Purpose We aimed to generate and phenotype a mouse model of FHONDA (Foveal Hypoplasia, Optic Nerve Decussation Defects, Anterior Segment Dysgenesis), rare disease associated with mutations in SLC38A8 that causes severe visual alterations similar albinism without affecting pigmentation. Methods The was generated CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats)/Cas9 technology using an RNA guide targeting the Scl38a8 murine locus. resulting mice were backcrossed...