DataSheet1_Analysis of RPGR gene mutations in 41 Chinese families affected by X-linked inherited retinal dystrophy.PDF

Background: This study analyzed the phenotypes and genotypes of 41 Chinese families with inherited retinal dystrophy (IRD) and RPGR gene mutations.Methods: This retrospective analysis evaluated a cohort of 41 patients who were subjected to a specific Hereditary Eye Disease Enrichment Panel (HEDEP) analysis. All (likely) pathogenic variants were determined by Sanger sequencing, and co-segregation analyses were performed on the available family members. All cases were subjected to Sanger sequencing for RPGR open reading frame 15 (ORF15) mutations.Results: A total of 41 probands from different families with a clinical diagnosis of retinitis pigmentosa (RP; 34 cases) and cone-rod dystrophy (CORD; 7 cases) were included in this cohort. According to clinical information, 2, 18, and 21 cases were first assigned as autosomal dominant (AD), sporadic, and X-linked (XL) inheritance, respectively. Several cases of affected females who presented with a male phenotype have been described, posing challenges at diagnosis related to the apparent family history of AD. Mutations were located in RPGR exons or introns 1–14 and in ORF15 of 12 of 41 (29.3%) and 29 of 41 (70.7%) subjects, respectively. Thirty-four (likely) pathogenic mutations were identified. Frameshifts were the most frequently observed variants, followed by nonsense, splice, and missense mutations. Herein, a detailed description of four RP patients carrying RPGR intronic mutations is reported, and in vitro splice assays were performed to confirm the pathogenicity of these intronic mutations.Conclusion: Our findings provide useful insights for the genetic and clinical counseling of patients with XL IRD, which will be useful for ongoing and future gene therapy trials.</p

Photolithographically Patterned TiO₂ Films for Electrolyte-Gated Transistors

Metal oxides constitute a class of materials whose properties cover the entire range from insulators to semiconductors to metals. Most metal oxides are abundant and accessible at moderate cost. Metal oxides are widely investigated as channel materials in transistors, including electrolyte-gated transistors, where the charge carrier density can be modulated by orders of magnitude upon application of relatively low electrical bias (2 V). Electrolyte gating offers the opportunity to envisage new applications in flexible and printed electronics as well as to improve our current understanding of fundamental processes in electronic materials, e.g. insulator/metal transitions. In this work, we employ photolithographically patterned TiO₂ films as channels for electrolyte-gated transistors. TiO₂ stands out for its biocompatibility and wide use in sensing, electrochromics, photovoltaics and photocatalysis. We fabricated TiO₂ electrolyte-gated transistors using an original unconventional parylene-based patterning technique. By using a combination of electrochemical and charge carrier transport measurements we demonstrated that patterning improves the performance of electrolyte-gated TiO₂ transistors with respect to their unpatterned counterparts. Patterned electrolyte-gated (EG) TiO₂ transistors show threshold voltages of about 0.9 V, ON/OFF ratios as high as 1 × 10⁵, and electron mobility above 1 cm²/(V s)

SLAWD nucleotide and amino acid sequences.

<p>Boxes indicate the initiator codon and terminator codon.</p

SLAWD expression during the different developmental stages of <i>S. litura</i>.

<p>The different letters above the columns indicate significant differences in <i>AWD</i> gene expression during <i>S. litura</i> development (<i>P</i><0.05).</p

Phenotypic analysis of <i>S. litura</i> after RNAi and DA treatment.

<p>A: Percentage mortality 24 h after RNAi or DA treatment; B: Percentage of normal pupation; C: Percentage of normal eclosion; D: Cumulative mortality of <i>S. litura</i>. The different letters above the columns indicate significant differences in <i>SLAWD</i> expression after RNAi or DA treatment (<i>P</i><0.05).</p

Multiple alignment of SLAWD and the translated amino acid sequences of AWD genes from other insects using ClustalW software.

<p>Multiple alignment of SLAWD and the translated amino acid sequences of AWD genes from other insects using ClustalW software.</p

The phenotypic changes in <i>S. litura</i> after treatment with dsSLAWD or DA.

<p>(a,b,c) Prepupal phenotypic changes of <i>S. litura</i>; (d,e,f ) pupal phenotypic changes of <i>S. litura</i>; (g,h,i) adult phenotypic changes of <i>S. litura</i>. The arrows indicate shortened or deformed wing growth in the eclosion adult of <i>S. litura</i>.</p

Phylogenetic analysis of insect AWD and AWD homologues.

<p>MEGA 4.0 was used to construct the phylogenetic tree. Bootstrap analyses from 1000 replications are shown by each branch. Arrows indicate SLAWD protein. Genbank accession numbers of the sequences are as follows: <i>D. melanogaster</i> AWD NP_476761.2; <i>B. mori</i> AWD like, GenBank: ABF51506.1; <i>A. pisum</i> AWD 1, NP_001119625.1; <i>A. pisum</i> AWD 2, NP_001119656.1; <i>A. pisum</i> AWD like, GenBank: ABD91521.1; <i>C. parallela</i> AWD like, GenBank: AAM53644.1; <i>D. citri</i> AWD like, GenBank: ABG81980.1; <i>M. hirsutus</i> AWD like, GenBank: ABM55663.1.</p

Graphene Plasmon Enhanced Vibrational Sensing of Surface-Adsorbed Layers

We characterize the influence of graphene nanoribbon plasmon excitation on the vibrational spectra of surface-absorbed polymers. As the detuning between the graphene plasmon frequency and a vibrational frequency of the polymer decreases, the vibrational peak intensity first increases and is then transformed into a region of narrow optical transparency as the frequencies overlap. Examples of this are provided by the carbonyl vibration in thin films of poly­(methyl methacrylate) and polyvinylpyrrolidone. The signal depth of the plasmon-induced transparency is found to be 5 times larger than that of light attenuated by the carbonyl vibration alone. The plasmon-vibrational mode coupling and the resulting fields are analyzed using both a phenomenological model of electromagnetically coupled oscillators and finite-difference time-domain simulations. It is shown that this coupling and the resulting absorption enhancement can be understood in terms of near-field electromagnetic interactions

Additional file 1: of Chinese herbal medicine TangBi Formula treatment of patients with type 2 diabetic distal symmetric polyneuropathy disease: study protocol for a randomized controlled trial

SPIRIT 2013. (DOC 124 kb