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We have generated single cell transcriptomic atlases of vomeronasal organs (VNO) from juvenile and adult mice. Combined with spatial molecular imaging, we uncover a distinct, previously unidentified class of cells that express the vomeronasal receptors (VRs) and a population of canonical olfactory sensory neurons in the VNO. High-resolution trajectory and cluster analyses reveal the lineage relationship, spatial distribution of cell types, and a putative cascade of molecular events that specify the V1r, V2r, and OR lineages from a common stem cell population. The expression of vomeronasal and olfactory receptors follow power law distributions, but there is high variability in average expression levels between individual receptor and cell types. Substantial co-expression is found between receptors across clades, from different classes, and between olfactory and VRs, with nearly half from pairs located on the same chromosome. Interestingly, the expression of V2r, but not V1r, genes is associated with various transcription factors, suggesting distinct mechanisms of receptor choice associated with the two cell types. We identify association between transcription factors, surface axon guidance molecules, and individual VRs, thereby uncovering a molecular code that guides the specification of the vomeronasal circuitry. Our study provides a wealth of data on the development and organization of the accessory olfactory system at both cellular and molecular levels to enable a deeper understanding of vomeronasal system function., Competing Interests: MH, LM, AF, TC, SM, AS, AP, CY No competing interests declared, (© 2024, Hills et al.)

Injury is common in the life of organisms. Because the extent of damage cannot be predicted, injured organisms must determine how much tissue needs to be restored. Although it is known that amputation position affects the regeneration speed of appendages, mechanisms conveying positional information remain unclear. We investigated tissue dynamics in regenerating caudal fins of the African killifish ( Nothobranchius furzeri ) and found position-specific, differential spatial distribution modulation, persistence, and magnitude of proliferation. Single-cell RNA sequencing revealed a transient regeneration-activated cell state (TRACS) in the basal epidermis that is amplified to match a given amputation position and expresses components and modifiers of the extracellular matrix (ECM). Notably, CRISPR-Cas9-mediated deletion of the ECM modifier sequestosome 1 ( sqstm1 ) increased the regenerative capacity of distal injuries, suggesting that regeneration growth rate can be uncoupled from amputation position. We propose that basal epidermis TRACS transduce positional information to the regenerating blastema by remodeling the ECM., Competing Interests: The authors declare no competing interests., (© 2024 The Authors.)

Respiration rate (RR) holds significance as a human health indicator. Presently, the conventional RR monitoring system requires direct physical contact, which may cause discomfort and pain. Therefore, this paper proposes a non-contact RR monitoring system integrating RGB and thermal imaging through RGB-thermal image alignment. The proposed method employs an advanced image processing algorithm for automatic region of interest (ROI) selection. The experimental results demonstrated a close correlation and a lower error rate between measured thermal, measured RGB, and reference data. In summary, the proposed non-contact system emerges as a promising alternative to conventional contact-based approaches without the associated discomfort and pain.

Background: International labour migration continues to be an integral component in Sri Lanka's economic development. Previous research indicates an adverse perinatal outcome in association with low maternal pre-pregnancy body mass index (PBMI) and gestational weight gain (GWG). However, evidence of this association is limited in migrant families. This study aims to investigate the associations between PBMI, GWG among lactating mothers (LM), and fetal outcomes in migrant households, where the father is the migrant worker., Methods: A secondary data analysis was done using a nationally representative sample of 7,199 LM. There were 284 LM whose husbands were international migrant workers. Maternal factors were taken as PBMI<18.5 kg/m 2 and GWG<7kg. Preterm birth and low birth weight (LBW) were taken as fetal outcomes. Binary logistic regression was performed to assess the associated factors., Results: There was significant difference between LM from migrant and non-migrant households with regards to place of residency, ethnicity, household monthly income, household food security, average household members, husband's education and husband's age. Among migrant, PBMI<18.5 kg/m 2 was associated with current BMI and mode of delivery. Migrant LM had significantly higher weight gain (≥12 kg) during pregnancy (p=0.005), were multiparous (p=0.008), delivered in private hospital (p=0.000), lesser percentage of underweight (p=0.002) and higher birthweight (p=0.03) than non-migrant LM. Logistic regression model revealed that for each kilogram increment in birthweight and GWG, preterm delivery decreased by 89%(OR=0.11;95%CI:0.04-0.28) and LBW decreased by 12%(OR=0.89;95%CI:0.81-0.97) respectively. Caesarean deliveries were positively associated with low GWG., Conclusion: Our study showed LM in migrant families had invested remittances to utilize private health facilities for deliveries, to improve weight gain during pregnancy and adequate PBMI to deliver higher birth weight babies. In depth study is needed to understand further utilisation of remittances to improve fetal outcomes by increasing birthweight and GWG in migrant families., (© 2022. The Author(s).)

Fast edge detection of images can be useful for many real-world applications. Edge detection is not an end application but often the first step of a computer vision application. Therefore, fast and simple edge detection techniques are important for efficient image processing. In this work, we propose a new edge detection algorithm using a combination of the wavelet transform, Shannon entropy and thresholding. The new algorithm is based on the concept that each Wavelet decomposition level has an assumed level of structure that enables the use of Shannon entropy as a measure of global image structure. The proposed algorithm is developed mathematically and compared to five popular edge detection algorithms. The results show that our solution is low redundancy, noise resilient, and well suited to real-time image processing applications.

Objectives: To determine changes and factors associated with child malnutrition, obesity in women and household food insecurity before and after the first wave of COVID-19 pandemic., Design: A prospective follow-up study., Setting: In 2019, the baseline Urban Health and Nutrition Study 2019 (UHNS-2019) was conducted in 603 households, which were selected randomly from 30 clusters to represent underserved urban settlements in Colombo. In the present study, 35 % of households from the UHNS-2019 cohort were randomly selected for repeat interviews, 1 year after the baseline study and 6 months after COVID-19 pandemic in Sri Lanka. Height/length and weight of children and women were re-measured, household food insecurity was reassessed, and associated factors were gathered through interviewer-administered questionnaires. Differences in measurements at baseline and follow-up studies were compared., Participants: A total of 207 households, comprising 127 women and 109 children were included., Results: The current prevalence of children with wasting and overweight was higher in the follow-up study than at baseline UHNS-2019 (18·3 % v. 13·7 %; P = 0·26 and 8·3 % v. 3·7 %; P = 0·12, respectively). There was a decrease in prevalence of child stunting (14·7 % v. 11·9 %; P = 0·37). A change was not observed in overall obesity in women, which was about 30·7 %. Repeated lockdown was associated with a significant reduction in food security from 57 % in UHNS-2019 to 30 % in the current study (P < 0·001)., Conclusions: There was an increase in wasting and overweight among children while women had a persistent high prevalence of obesity. This population needs suitable interventions to improve nutrition status of children and women to minimise susceptibility to COVID-19.

Infants with fragile skin are patients who would benefit from non-contact vital sign monitoring due to the avoidance of potentially harmful adhesive electrodes and cables. Non-contact vital signs monitoring has been studied in clinical settings in recent decades. However, studies on infants in the Neonatal Intensive Care Unit (NICU) are still limited. Therefore, we conducted a single-center study to remotely monitor the heart rate (HR) and respiratory rate (RR) of seven infants in NICU using a digital camera. The region of interest (ROI) was automatically selected using a convolutional neural network and signal decomposition was used to minimize the noise artefacts. The experimental results have been validated with the reference data obtained from an ECG monitor. They showed a strong correlation using the Pearson correlation coefficients (PCC) of 0.9864 and 0.9453 for HR and RR, respectively, and a lower error rate with RMSE 2.23 beats/min and 2.69 breaths/min between measured data and reference data. A Bland-Altman analysis of the data also presented a close correlation between measured data and reference data for both HR and RR. Therefore, this technique may be applicable in clinical environments as an economical, non-contact, and easily deployable monitoring system, and it also represents a potential application in home health monitoring.

The World Health Organization (WHO) has declared COVID-19 a pandemic. We review and reduce the clinical literature on diagnosis of COVID-19 through symptoms that might be remotely detected as of early May 2020. Vital signs associated with respiratory distress and fever, coughing, and visible infections have been reported. Fever screening by temperature monitoring is currently popular. However, improved noncontact detection is sought. Vital signs including heart rate and respiratory rate are affected by the condition. Cough, fatigue, and visible infections are also reported as common symptoms. There are non-contact methods for measuring vital signs remotely that have been shown to have acceptable accuracy, reliability, and practicality in some settings. Each has its pros and cons and may perform well in some challenges but be inadequate in others. Our review shows that visible spectrum and thermal spectrum cameras offer the best options for truly noncontact sensing of those studied to date, thermal cameras due to their potential to measure all likely symptoms on a single camera, especially temperature, and video cameras due to their availability, cost, adaptability, and compatibility. Substantial supply chain disruptions during the pandemic and the widespread nature of the problem means that cost-effectiveness and availability are important considerations.

This study presents an application of infrared spectroscopy of sera for monitoring the efficacy of anti-TNFα therapy for inflammatory bowel diseases. Understanding the therapeutic response includes the analysis of absorption bands representing constituent molecules. Interleukin-10 knockout mouse model of the diseases with anti-TNFα treatment was used. The discrimination potential is optimized by analyzing data with curve fitting. It shows; antibody therapy markedly ameliorated the disease, concurring with earlier mucosal immunology and pathophysiologic studies. This technique may thus also be useful for the evaluation of mucosal healing or other therapeutic modalities of gastrointestinal tract diseases keeping the endoscopic tests as confirmatory., Competing Interests: “The authors declare no conflicts of interest.”, (© 2020 Optical Society of America under the terms of the OSA Open Access Publishing Agreement.)

Background: Vitamin D deficiency (VDD) and insufficiency (VDI) are public health problems in many countries, and limited data is available on the prevalence of VDD/VDI in Sri Lanka., Objectives: To determine the prevalence and associated factors of VDD in children aged 10- 18 years., Methods: This was a cross-sectional study among school children aged 10-18 years at national level. A representative sample of 2525 children were recruited from July to November 2017. Serum 25(OH)D concentration and the patterns of vitamin D rich foods consumption were assessed. VDD and VDI cut offs were set at serum 25(OH)D concentrations of <12 ng/mL and 12-20 ng/mL, respectively as defined by global consensus in 2016., Results: The mean serum 25(OH)D level was 19.3±7.4 ng/mL. The prevalence of VDD and VDI were 13.2% (95%CI: 11.9%-14.5%) and 45.6% (95%CI: 43.7%-47.5%), respectively. The prevalence of VDD was highest in the central province (32.2%) and highest prevalence of VDI was in the Inabaragamuwa province (58.9%). VDD and VDI were lowest in North Central province (0.7% and 34.7%, respectively). Significantly higher serum 25(OH)D levels were observed with male gender (p=0.000), BMI for age <-2SD (p=0.000), daily milk consumption (p=0.000) and residing in dry zone (p=0.0, Conclusions: Though Sri Lanka is a tropical country, VDD is prevalent among school children aged 10-18 years. It is important to develop a VDD preventive strategy, especially for high risk groups.

Loss of sensory hair cells leads to deafness and balance deficiencies. In contrast to mammalian hair cells, zebrafish ear and lateral line hair cells regenerate from poorly characterized support cells. Equally ill-defined is the gene regulatory network underlying the progression of support cells to differentiated hair cells. scRNA-Seq of lateral line organs uncovered five different support cell types, including quiescent and activated stem cells. Ordering of support cells along a developmental trajectory identified self-renewing cells and genes required for hair cell differentiation. scRNA-Seq analyses of fgf3 mutants, in which hair cell regeneration is increased, demonstrates that Fgf and Notch signaling inhibit proliferation of support cells in parallel by inhibiting Wnt signaling. Our scRNA-Seq analyses set the foundation for mechanistic studies of sensory organ regeneration and is crucial for identifying factors to trigger hair cell production in mammals. The data is searchable and publicly accessible via a web-based interface., Competing Interests: ML, DD, NK, SB, HB, MS, TG, AR, EB, AP, KH, AP, JH, TP No competing interests declared, (© 2019, Lush et al.)

Accurate and comprehensive characterization of genetic variation is essential for deciphering the genetic basis of diseases and other phenotypes. A vast amount of genetic variation stems from large-scale sequence changes arising from the duplication, deletion, inversion, and translocation of sequences. In the past 10 years, high-throughput short reads have greatly expanded our ability to assay sequence variation due to single nucleotide polymorphisms. However, a recent de novo assembly of a second Drosophila melanogaster reference genome has revealed that short read genotyping methods miss hundreds of structural variants, including those affecting phenotypes. While genomes assembled using high-coverage long reads can achieve high levels of contiguity and completeness, concerns about cost, errors, and low yield have limited widespread adoption of such sequencing approaches. Here we resequenced the reference strain of D. melanogaster (ISO1) on a single Oxford Nanopore MinION flow cell run for 24 hr. Using only reads longer than 1 kb or with at least 30x coverage, we assembled a highly contiguous de novo genome. The addition of inexpensive paired reads and subsequent scaffolding using an optical map technology achieved an assembly with completeness and contiguity comparable to the D. melanogaster reference assembly. Comparison of our assembly to the reference assembly of ISO1 uncovered a number of structural variants (SVs), including novel LTR transposable element insertions and duplications affecting genes with developmental, behavioral, and metabolic functions. Collectively, these SVs provide a snapshot of the dynamics of genome evolution. Furthermore, our assembly and comparison to the D. melanogaster reference genome demonstrates that high-quality de novo assembly of reference genomes and comprehensive variant discovery using such assemblies are now possible by a single lab for under $1,000 (USD)., (Copyright © 2018 Solares et al.)

There remains a great need for diagnosis of inflammatory bowel disease, for which the current technique, colonoscopy, is costly and also has risks for complications. Attenuated total reflectance Fourier transform infrared spectroscopy is a new screening technique to evaluate colitis. Using second derivative spectral deconvolution of the absorbance spectra, a full set of spectral markers were identified based on statistical analysis. Using this method, Amide I group frequencies, (specifically, α-helix to β-sheet ratio of the protein secondary structure) were identified in addition to the previously reported glucose and mannose signatures in sera of chronic and acute mice models of colitis. We also used the same technique to demonstrate that these spectral markers (α-helix/β-sheet ratio, glucose and mannose) are recovering to basal levels upon anti-TNFα therapy. Hence, this technique will be able to identify changes in the sera due to diseases., (© 2017 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.)

Neural crest cells migrate throughout the embryo, but how cells move in a directed and collective manner has remained unclear. Here, we perform the first single-cell transcriptome analysis of cranial neural crest cell migration at three progressive stages in chick and identify and establish hierarchical relationships between cell position and time-specific transcriptional signatures. We determine a novel transcriptional signature of the most invasive neural crest Trailblazer cells that is consistent during migration and enriched for approximately 900 genes. Knockdown of several Trailblazer genes shows significant but modest changes to total distance migrated. However, in vivo expression analysis by RNAscope and immunohistochemistry reveals some salt and pepper patterns that include strong individual Trailblazer gene expression in cells within other subregions of the migratory stream. These data provide new insights into the molecular diversity and dynamics within a neural crest cell migratory stream that underlie complex directed and collective cell behaviors.

Aneuploidy and epigenetic alterations have long been associated with carcinogenesis, but it was unknown whether aneuploidy could disrupt the epigenetic states required for cellular differentiation. In this study, we found that ~3% of random aneuploid karyotypes in yeast disrupt the stable inheritance of silenced chromatin during cell proliferation. Karyotype analysis revealed that this phenotype was significantly correlated with gains of chromosomes III and X. Chromosome X disomy alone was sufficient to disrupt chromatin silencing and yeast mating-type identity as indicated by a lack of growth response to pheromone. The silencing defect was not limited to cryptic mating type loci and was associated with broad changes in histone modifications and chromatin localization of Sir2 histone deacetylase. The chromatin-silencing defect of disome X can be partially recapitulated by an extra copy of several genes on chromosome X. These results suggest that aneuploidy can directly cause epigenetic instability and disrupt cellular differentiation.

Background: Remote physiological measurement might be very useful for biomedical diagnostics and monitoring. This study presents an efficient method for remotely measuring heart rate and respiratory rate from video captured by a hovering unmanned aerial vehicle (UVA). The proposed method estimates heart rate and respiratory rate based on the acquired signals obtained from video-photoplethysmography that are synchronous with cardiorespiratory activity., Methods: Since the PPG signal is highly affected by the noise variations (illumination variations, subject's motions and camera movement), we have used advanced signal processing techniques, including complete ensemble empirical mode decomposition with adaptive noise (CEEMDAN) and canonical correlation analysis (CCA) to remove noise under these assumptions., Results: To evaluate the performance and effectiveness of the proposed method, a set of experiments were performed on 15 healthy volunteers in a front-facing position involving motion resulting from both the subject and the UAV under different scenarios and different lighting conditions., Conclusion: The experimental results demonstrated that the proposed system with and without the magnification process achieves robust and accurate readings and have significant correlations compared to a standard pulse oximeter and Piezo respiratory belt. Also, the squared correlation coefficient, root mean square error, and mean error rate yielded by the proposed method with and without the magnification process were significantly better than the state-of-the-art methodologies, including independent component analysis (ICA) and principal component analysis (PCA).

This article describes a rapid, simple and cost-effective technique that could lead to a screening method for colitis without the need for biopsies or in vivo measurements. This screening technique includes the testing of serum using Attenuated Total Reflectance Fourier Transform Infrared (ATR-FTIR) spectroscopy for the colitis-induced increased presence of mannose. Chronic (Interleukin 10 knockout) and acute (Dextran Sodium Sulphate-induced) models for colitis are tested using the ATR-FTIR technique. Arthritis (Collagen Antibody Induced Arthritis) and metabolic syndrome (Toll like receptor 5 knockout) models are also tested as controls. The marker identified as mannose uniquely screens and distinguishes the colitic from the non-colitic samples and the controls. The reference or the baseline spectrum could be the pooled and averaged spectra of non-colitic samples or the subject's previous sample spectrum. This shows the potential of having individualized route maps of disease status, leading to personalized diagnosis and drug management., (© 2017 Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim.)

We report a wavelength threshold extension, from the designed value of 3.1 to 8.9 μm, in a p-type heterostructure photodetector. This is associated with the use of a graded barrier and barrier offset, and arises from hole-hole interactions in the detector absorber. Experiments show that using long-pass filters to tune the energies of incident photons gives rise to changes in the intensity of the response. This demonstrates an alternative approach to achieving tuning of the photodetector response without the need to adjust the characteristic energy that is determined by the band structure.

In most organisms the synaptonemal complex (SC) connects paired homologs along their entire length during much of meiotic prophase. To better understand the structure of the SC, we aim to identify its components and to determine how each of these components contributes to SC function. Here, we report the identification of a novel SC component in Drosophila melanogaster female oocytes, which we have named Corolla. Using structured illumination microscopy, we demonstrate that Corolla is a component of the central region of the SC. Consistent with its localization, we show by yeast two-hybrid analysis that Corolla strongly interacts with Cona, a central element protein, demonstrating the first direct interaction between two inner-synaptonemal complex proteins in Drosophila. These observations help provide a more complete model of SC structure and function in Drosophila females., (Copyright © 2014 by the Genetics Society of America.)

Isolating high-priority segments of genomes greatly enhances the efficiency of next-generation sequencing (NGS) by allowing researchers to focus on their regions of interest. For the 2010-11 DNA Sequencing Research Group (DSRG) study, we compared outcomes from two leading companies, Agilent Technologies (Santa Clara, CA, USA) and Roche NimbleGen (Madison, WI, USA), which offer custom-targeted genomic enrichment methods. Both companies were provided with the same genomic sample and challenged to capture identical genomic locations for DNA NGS. The target region totaled 3.5 Mb and included 31 individual genes and a 2-Mb contiguous interval. Each company was asked to design its best assay, perform the capture in replicates, and return the captured material to the DSRG-participating laboratories. Sequencing was performed in two different laboratories on Genome Analyzer IIx systems (Illumina, San Diego, CA, USA). Sequencing data were analyzed for sensitivity, specificity, and coverage of the desired regions. The success of the enrichment was highly dependent on the design of the capture probes. Overall, coverage variability was higher for the Agilent samples. As variant discovery is the ultimate goal for a typical targeted sequencing project, we compared samples for their ability to sequence single-nucleotide polymorphisms (SNPs) as a test of the ability to capture both chromosomes from the sample. In the targeted regions, we detected 2546 SNPs with the NimbleGen samples and 2071 with Agilent's. When limited to the regions that both companies included as baits, the number of SNPs was ∼1000 for each, with Agilent and NimbleGen finding a small number of unique SNPs not found by the other.

The optical properties of p-type InP epitaxial films with different doping concentrations are investigated by infrared absorption measurements accompanied by reflection and transmission spectra taken from 25 to 300 K. A complete dielectric function (DF) model, including intervalence band (IVB) transitions, free-carrier and lattice absorption, is used to determine the optical constants with improved accuracy in the spectral range from 2 to 35 μm. The IVB transitions by free holes among the split-off, light-hole, and heavy-hole bands are studied using the DF model under the parabolic-band approximation. A good understanding of IVB transitions and the absorption coefficient is useful for designing high operating temperature and high detectivity infrared detectors and other optoelectronic devices. In addition, refractive index values reported here are useful for optoelectronic device designing, such as implementing p-InP waveguides in semiconductor quantum cascade lasers. The temperature dependence of hole effective mass and plasma frequency is also reported.

Oblique-angle deposited titanium dioxide (TiO(2)) nanorods have attracted much attention as good antireflection (AR) coating material due to their low n profile. Therefore, it is necessary to better understand the optical properties of these nanorods. TiO(2) nanorods grown on glass and Si substrates were characterized in the visible (0.4-0.8 μm) and infrared (2-12 μm) regions to extract their complex n profiles empirically. Application of these nanorods in multilayer AR coatings on infrared detectors is also discussed. Optimization of graded index profile of these AR coatings in the broad infrared region (2-12 μm) even at oblique angles of incidence is discussed. The effective coupling between the incoming light and multiple nanorod layers for reducing the reflection is obtained by optimizing the effect from Fabry-Perot oscillations. An optimized five-layer AR coating on GaN shows the reflectance less than 3.3% for normal incidence and 10.5% at 60° across the whole 2-8 μm spectral range.

Although traditional genetic assays have characterized the pattern of crossing over across the genome in Drosophila melanogaster, these assays could not precisely define the location of crossovers. Even less is known about the frequency and distribution of noncrossover gene conversion events. To assess the specific number and positions of both meiotic gene conversion and crossover events, we sequenced the genomes of male progeny from females heterozygous for 93,538 X chromosomal single-nucleotide and InDel polymorphisms. From the analysis of the 30 F1 hemizygous X chromosomes, we detected 15 crossover and 5 noncrossover gene conversion events. Taking into account the nonuniform distribution of polymorphism along the chromosome arm, we estimate that most oocytes experience 1 crossover event and 1.6 gene conversion events per X chromosome pair per meiosis. An extrapolation to the entire genome would predict approximately 5 crossover events and 8.6 conversion events per meiosis. Mean gene conversion tract lengths were estimated to be 476 base pairs, yielding a per nucleotide conversion rate of 0.86 × 10(-5) per meiosis. Both of these values are consistent with estimates of conversion frequency and tract length obtained from studies of rosy, the only gene for which gene conversion has been studied extensively in Drosophila. Motif-enrichment analysis revealed a GTGGAAA motif that was enriched near crossovers but not near gene conversions. The low-complexity and frequent occurrence of this motif may in part explain why, in contrast to mammalian systems, no meiotic crossover hotspots have been found in Drosophila.

A GaAs/AlGaAs detector is demonstrated showing multiple detection capabilities. This detector exhibits a broad spectral response in the 200-870 nm (ultraviolet-visible) range for forward bias and in the 590-870 nm (visible) range for reverse bias. In the mid-IR region, two peaks at 5 and 8.9 microm can be observed for low and high forward bias voltages, respectively. In addition, the peak at 8.9 microm is sensitive to the polarization of the incoming radiation.

Next-generation methods for rapid whole-genome sequencing enable the identification of single-base-pair mutations in Drosophila by comparing a chromosome bearing a new mutation to the unmutagenized sequence. To validate this approach, we sought to identify the molecular lesion responsible for a recessive EMS-induced mutation affecting egg shell morphology by using Illumina next-generation sequencing. After obtaining sufficient sequence from larvae that were homozygous for either wild-type or mutant chromosomes, we obtained high-quality reads for base pairs composing approximately 70% of the third chromosome of both DNA samples. We verified 103 single-base-pair changes between the two chromosomes. Nine changes were nonsynonymous mutations and two were nonsense mutations. One nonsense mutation was in a gene, encore, whose mutations produce an egg shell phenotype also observed in progeny of homozygous mutant mothers. Complementation analysis revealed that the chromosome carried a new functional allele of encore, demonstrating that one round of next-generation sequencing can identify the causative lesion for a phenotype of interest. This new method of whole-genome sequencing represents great promise for mutant mapping in flies, potentially replacing conventional methods.

Proteins of the bone morphogenetic protein (BMP) family are known to have a role in ocular and skeletal development; however, because of their widespread expression and functional redundancy, less progress has been made identifying the roles of individual BMPs in human disease. We identified seven heterozygous mutations in growth differentiation factor 6 (GDF6), a member of the BMP family, in patients with both ocular and vertebral anomalies, characterized their effects with a SOX9-reporter assay and western analysis, and demonstrated comparable phenotypes in model organisms with reduced Gdf6 function. We observed a spectrum of ocular and skeletal anomalies in morphant zebrafish, the latter encompassing defective tail formation and altered expression of somite markers noggin1 and noggin2. Gdf6(+/-) mice exhibited variable ocular phenotypes compatible with phenotypes observed in patients and zebrafish. Key differences evident between patients and animal models included pleiotropic effects, variable expressivity and incomplete penetrance. These data establish the important role of this determinant in ocular and vertebral development, demonstrate the complex genetic inheritance of these phenotypes, and further understanding of BMP function and its contributions to human disease.

Results are presented for a dual-band detector that simultaneously detects UV radiation in the 250-360 nm and IR radiation in the 5-14 microm regions with near zero spectral cross talk. In this detector having separate UV- and IR-active regions with three contacts (one common contact for both regions) allows the separation of the UV and IR generated photocurrent components, identifying the relative strength of each component. This will be an important development in UV-IR dual-band applications such as fire-flame detection, solar astronomy, and military sensing, eliminating the difficulties of employing several individual detectors with separate electronics-cooling mechanisms.

We have proposed a type of mid-infrared (MIR) and far-infrared (FIR) dual-band imaging device, which employs the photon frequency upconversion concept in a GaN/AlGaN MIR and FIR dual-band detector integrated with a GaN/AlGaN violet light emitting diode. On the basis of the photoresponse of single-period GaN/AlGaN dual-band detectors, we present the detailed optimization of multiperiod GaN emitter/AlGaN barrier detectors and their applications to dual-band pixelless upconversion imaging. Satisfying images have been received through the analysis of the modulation transfer function and the upconversion efficiency in the GaN/AlGaN dual-band pixelless upconverters, which exhibit good image resolution, high quantum efficiency, and negligible cross talk.

Terahertz detection using the free-carrier absorption requires a small internal work function of the order of a few millielectron volts. A threshold frequency of 3.2 THz (93 microm or approximately 13 meV work function) is demonstrated by using a 1 x 10(18) cm(-3) Si-doped GaAs emitter and an undoped Al(0.04)Ga(0.96)As barrier structure. The peak responsivity of 6.5 A/W, detectivity of 5.5 x 10(8) Jones, and quantum efficiency of 19% were obtained at 7.1 THz under a bias field of 0.7 kV/cm at 6 K, while the detector spectral response range spans from 3.2 to 30 THz.