Spectrally sparse optical coherence tomography.

Swept-source optical coherence tomography (OCT) typically relies on expensive and complex swept-source lasers, the cost of which currently limits the suitability of OCT for new applications. In this work, we demonstrate spectrally sparse OCT utilizing randomly spaced low-bandwidth optical chirps, suitable for low-cost implementation with telecommunications grade devices. Micron scale distance estimation accuracy with a resolution of 40 μm at a standoff imaging distance greater than 10 cm is demonstrated using a stepped chirp approach with approximately 23% occupancy of 4 THz bandwidth.

Cyclin-dependent-like kinase 5 is required for pain signaling in human sensory neurons and mouse models.

Cyclin-dependent-like kinase 5 () gene mutations lead to an X-linked disorder that is characterized by infantile epileptic encephalopathy, developmental delay, and hypotonia. However, we found that a substantial percentage of these patients also report a previously unrecognized anamnestic deficiency in pain perception. Consistent with a role in nociception, we found that CDKL5 is expressed selectively in nociceptive dorsal root ganglia (DRG) neurons in mice and in induced pluripotent stem cell (iPS)-derived human nociceptors.

The Human Gene Mutation Database (HGMD): optimizing its use in a clinical diagnostic or research setting.

The Human Gene Mutation Database (HGMD) constitutes a comprehensive collection of published germline mutations in nuclear genes that are thought to underlie, or are closely associated with human inherited disease. At the time of writing (June 2020), the database contains in excess of 289,000 different gene lesions identified in over 11,100 genes manually curated from 72,987 articles published in over 3100 peer-reviewed journals. There are primarily two main groups of users who utilise HGMD on a regular basis; research scientists and clinical diagnosticians.

High-dimensional modulation for coherent optical communications systems.

In this paper, we examine the performance of several modulation formats in more than four dimensions for coherent optical communications systems. We compare two high-dimensional modulation design methodologies based on spherical cutting of lattices and block coding of a 'base constellation' of binary phase shift keying (BPSK) on each dimension. The performances of modulation formats generated with these methodologies is analyzed in the asymptotic signal-to-noise ratio regime and for an additive white Gaussian noise (AWGN) channel.

A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti.

Ectodermal dysplasias (EDs) are a large and heterogeneous group of hereditary disorders characterized by abnormalities in structures of ectodermal origin. Incontinentia pigmenti (IP) is an ED characterized by skin lesions evolving over time, as well as dental, nail, and ocular abnormalities. Due to X-linked dominant inheritance IP symptoms can only be seen in female individuals while affected males die during development in utero.

Burst Mode Receiver for 112 Gb/s DP-QPSK with parallel DSP.

A burst mode 112 Gb/s DP-QPSK digital coherent optical receiver with parallel DSP suitable for implementation in a CMOS ASIC with a 218.75 MHz clock speed is presented. The receiver performance is validated in a five channel 50 GHz grid WDM burst switching experiment using a commercially available wavelength tunable laser as the local oscillator.

Ultra-long-haul transmission of 7×42.9 Gbit/s PS-QPSK and PDM-BPSK.

We investigated ultra-long-haul transmission of polarization-switched QPSK (PS-QPSK) and polarization-division-multiplexed BPSK (PDM-BPSK) at 42.9 Gbit/s experimentally as well as by means of computer simulations. PDM-BPSK allowed transmission distances in excess of 14,040 km to be achieved, compared to 13,640 km for PS-QPSK.

Generation and long-haul transmission of polarization-switched QPSK at 42.9 Gb/s.

We demonstrate, for the first time, the generation and transmission of polarization-switched QPSK (PS-QPSK) signals at 42.9 Gb/s. Long-haul transmission of PS-QPSK is experimentally investigated in a recirculating loop and compared with transmission of dual-polarization QPSK (DP-QPSK) at 42.

Blind adaptive equalization of polarization-switched QPSK modulation.

Coherent detection in combination with digital signal processing has recently enabled significant progress in the capacity of optical communications systems. This improvement has enabled detection of optimum constellations for optical signals in four dimensions. In this paper, we propose and investigate an algorithm for the blind adaptive equalization of one such modulation format: polarization-switched quaternary phase shift keying (PS-QPSK).

An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene.

A 130 base pair (bp) insertion (g.-8delCins130) into the 5' untranslated region of the PAFAH1B1 (LIS1) gene, seven nucleotides upstream of the translational initiation site, was detected in an isolated case of lissencephaly. The inserted DNA sequence exhibited perfect homology to two non-contiguous regions of the mitochondrial genome (8479 to 8545 and 8775 to 8835, containing portions of two genes, ATP8 and ATP6 ), as well as near-perfect homology (1 bp mismatch) to a nuclear mitochondrial pseudogene (NUMT) sequence located on chromosome 1p36.

Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene.

The +1169A allele of the A/T single nucleotide polymorphism (SNP; rs2665802), located within intron 4 of the human growth hormone 1 ( GH1 ) gene, has been associated with reduced levels of circulating GH and insulin-like growth factor 1, a reduced risk of colorectal cancer and a predisposition to osteoporosis. Whether this intronic SNP is itself the functional polymorphism responsible for exerting a direct effect on GH1 gene expression, however, or whether it is instead in linkage disequilibrium with the functional SNP, has been an open question. The evolutionary conservation of the +1169T allele (and the surrounding intronic sequence) in the bovine genome, as well as in primate genomes, is, however, suggestive of its functionality.

Characterization of long-haul 112Gbit/s PDM-QAM-16 transmission with and without digital nonlinearity compensation.

In this paper long-haul, single channel, polarization multiplexed 16-state quadrature amplitude modulation (PDM-QAM-16) transmission at 112 Gbit/s is investigated. Novel digital signal processing techniques are used to perform carrier phase estimation and symbol estimation, in combination with nonlinear digital backpropagation. The results obtained demonstrate that the use of digital nonlinear backpropagation increases the optimum launch power from -4 dBm to -1 dBm with a consequent increase in maximum reach from 1440 km to 2400 km, which is a record transmission distance for QAM-16 reported to date for an SMF link with EDFAs only.

Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population.

Among Europeans, functionally significant GH1 gene variants occur not only in individuals with idiopathic growth hormone (GH) deficiency and/or short stature but also fairly frequently in the general population. To assess the generality of these findings, 163 individuals from Benin, West Africa were screened for mutations and polymorphisms in their GH1 genes. A total of 37 different sequence variants were identified in the GH1 gene region, 24 of which occurred with a frequency of >1%.

Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene.

The unique case of two sisters with symptoms of RTT and two quite distinct, novel, and apparently de novo microdeletions of the MECP2 gene is described. One sister possessed an 18 base-pair (bp) deletion (c.1155_1172del18) within the deletion hotspot region of exon 4, whereas the other sister exhibited a 43 bp deletion at a different location in the same exon (c.

A gene conversion hotspot in the human growth hormone (GH1) gene promoter.

To assess the evolutionary importance of nonallelic (or interlocus) gene conversion for the highly polymorphic human growth hormone (GH1) gene promoter, sequence variation in this region was studied in four different ethnic groups. For 14 SNPs in the proximal GH1 promoter (535 bp), 60 different haplotypes were observed in 577 individuals (156 Britons, 116 Spaniards, 163 West-Africans, 142 Asians). Using a novel coalescence-based statistical test, significant evidence was found in the British, Spanish, and African groups for GH1 having acted as an acceptor of gene conversion, with at least one of the four paralogous GH gene promoters serving as the donor (and specifically GH2 in the Britons and Spaniards).

Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke.

An increased prevalence of both hypertension and cerebrovascular stroke is apparent in growth hormone (GH) deficiency whilst hypertension is a frequent complication in acromegaly. This has suggested a possible link between GH, stature and arterial function. Since the risk of both hypertension and stroke also appears to be inversely correlated with adult height, we have instigated an exploratory study to assess whether inter-individual variation in the genes encoding human growth hormone (GH1) and the GH receptor (GHR) might be associated with an increased risk of hypertension and stroke.

NTNG1 mutations are a rare cause of Rett syndrome.

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT). The netrin G1 protein (NTNG1) has an important role in the developing central nervous system, particularly in axonal guidance, signalling and NMDA receptor function and was a good candidate gene for RTT. We recruited 115 patients with RTT (females: 25 classic and 84 atypical; 6 males) but no mutation in the MECP2 gene.

A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway.

The pituitary-expressed GH1 gene was screened for mutation in a group of 74 children with familial short stature. Two novel mutations were identified: an Ile179Met substitution and a -360A-->G promoter variant. The Ile179Met variant was shown to exhibit a similar degree of resistance to proteolysis as wild-type GH, indicating that the introduction of Met does not cause significant misfolding.

Prenatal exclusion of severe factor VII deficiency.

A nonconsanguineous asymptomatic couple, were identified as carriers of factor VII (FVII) deficiency when two of their newborn children died of massive intracranial hemorrhage secondary to severe congenital FVII deficiency. Complete sequence analysis of the factor VII (F7) gene in this couple indicated that the mother was heterozygous for an A to G transition at position -2 of the exon 5 acceptor splice site, and the father was heterozygous for a G to T transversion at position +1 of the exon 6 donor splice site. This information allowed us to exclude a compound heterozygous deficiency state in a subsequent pregnancy using PCR/direct sequencing of the F7 gene using DNA obtained from chorionic villi at 10 weeks' gestation.

Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.

Subtle mutations in the growth hormone 1 (GH1) gene have been regarded as a comparatively rare cause of short stature. Such lesions were sought in a group of 41 individuals selected for short stature, reduced height velocity, and bone age delay; a group of 11 individuals with short stature and idiopathic growth hormone deficiency (IGHD); and a group of 154 controls. Heterozygous mutations were identified in all three groups but disproportionately in the individuals with short stature, both with (odds ratio 25.

Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region.

The proximal promoter region of the human pituitary expressed growth hormone (GH1) gene is highly polymorphic, containing at least 15 single nucleotide polymorphisms (SNPs). This variation is manifest in 40 different haplotypes, the high diversity being explicable in terms of gene conversion, recurrent mutation, and selection. Functional analysis showed that 12 haplotypes were associated with a significantly reduced level of reporter gene expression whereas 10 haplotypes were associated with a significantly increased level.