22 research outputs found
Retinal lamination observed in WT and 0.1 mM 5 dpf morphant embryos treated with PTU.
<p>Green: Alexa-fluor-488-phalloidin: actin. Blue: TOPRO: nuclei. Red: Zpr-1: double cone photoreceptors. hc: horizontal cells. os: outer segments. is: inner segments si.</p
Primers used to amplify and sequence the full-length open reading frame (ORF) of <i>Ol-Ush2a</i>.
<p>Primers used to amplify and sequence the full-length open reading frame (ORF) of <i>Ol-Ush2a</i>.</p
Evolutionary analysis of USH2A isoform_a.
<p>Alignment of the exons that correspond to the hypothetic short isoforms of <i>USH2A.</i> Only in Primates and most Eutherians the “KCV end” seems to be conserved.</p
Ultra structural architecture analysis of inner ear and stereocilia performed on MO1 morphant embryos using fluorescent staining.
<p>A. Phalloidin staining of WT larvae inner ear highlighting the three sensory areas containing stereocilia. B. Phalloidin staining of 0.1: A and B: 20 µm. C and D: 5 µm.</p
Medaka fish Ol-Ush2a predicted protein.
<p>Motif alignment of the human, murine, zebrafish and medaka USH2A proteins. The two lines beneath the murine Ush2a denote the two predicted variants reported (USH2A_iso_a: 170 kDa and USH2A_iso_b: 600 kDa). Symbols representing different motifs are given at the bottom of the diagram: LamGL, LamG-like jellyroll fold domain; EGF-Lam, laminin-type epidermal growth factor-like domain; FN3, fibronectin type 3; LamG, laminin G domain.</p
Medaka embryos obtained after MO1 and MO2 injections.
<p><b>A, B, G, H:</b>MO1 C (A, B) and MO C (G, H) embryos at 72 hpf. <b>C, D, I, J:</b> MO1 (C, D) and MO2 (I, J) injected embryos at 72 hpf, showing a <b>mild phenotype</b>. <b>E, F, K, L:</b> MO1 (E, F) and MO2 (K, L) injected embryos at 72 hpf, showing a <b>severe phenotype</b>. Scale bars: 100 µm. Embryos in frontal (A, C, E, G, I, K) and lateral position (B, D, F, H, J, L).</p
RT-PCR results from total RNA extracted from control and morphant MO3 embryos at 96 hpf.
<p>C. Control embryos. Expected size: 573 bp MO. Morphant embryos. Expected size: 444 pb.</p
Spatial and temporal <i>Ol-Ush2a</i> expression pattern analysis performed by RT-PCR amplification.
<p><b>A</b>: RT-PCR amplification from adult organs. <b>B</b>: RT-PCR amplification from different embryonic developmental stages.</p
Survival analysis.
<p>Kaplan-Meier survival curves were estimated for each event and the curves of the different groups were compared using the log-rank test. The three categories of patients are considered separately, and then in two new regroupings (Category A + B) and (Category B + C). Category A: p.(Cys759Phe) homozygous, Category B: compound heterozygous p.(Cys759Phe) + <i>USH2A</i> missense variant, and Category C: compound heterozygous p.(Cys759Phe) + <i>USH2A</i> truncating variant. X axis: age in years. Y axis: probability of survival. Graph 1. Survival curve: fraction of patients free of legal blindness due to VF<10° over time. Graph 2. Survival curve: fraction of patients free of cataracts over time. Graph 3. Survival curve: fraction of patients free of hypoacusis over time.</p
Phenotypic findings in 59 patients from 52 families carrying the p.(Cys759Phe) variant, classified by their genotype.
<p>Phenotypic findings in 59 patients from 52 families carrying the p.(Cys759Phe) variant, classified by their genotype.</p