Loss of function in causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome.

Purpose: Wolf-Hirschhorn syndrome (WHS), a contiguous gene syndrome caused by heterozygous deletions of the distal short arm of chromosome 4 that includes , reportedly causes specific DNA methylation signatures in peripheral blood cells. However, the genomic loci responsible for these signatures have not been elucidated. The present study aims to define the loci underlying WHS-related DNA methylation signatures and explore the role of in these signatures.

Quantum interference of pulsed time-bin entanglement generated from silicon ring resonator.

We demonstrate a pulsed operation of an entangled photon pair source that is based on a silicon ring resonator. Time-bin entangled photon pairs at telecommunication wavelengths are generated via spontaneous four-wave mixing, which is excited by a pulsed pump laser. The entanglement between the generated photon pair is analyzed by using asymmetric Mach-Zehnder interferometers followed by single-photon detectors, resulting in non-classical interference with a visibility exceeding a classical limit.

Proficiently partitioning of bioactive peptide-ssDNA conjugates by microbead-assisted capillary electrophoresis (MACE).

Low-molecular drug discovery using DNA-encoded chemical library (DEL) is a powerful technology, although improving the partitioning efficiency of affinity ligands from DEL remains a challenge. Here, we assessed the usefulness of microbead-assisted capillary electrophoresis (MACE) for partitioning peptide-oligonucleotide conjugates (POCs), in which high selection pressure is applied because of different mobility of target-modified beads and POCs during CE. Despite their different charge characteristics, all POCs were well separated from the beads.

Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 Genes.

Introduction: Chromosomal microarray (CMA) is a highly accurate and established method for detecting copy number variations (CNVs) in clinical genetic testing. CNVs are important etiological factors for disorders such as intellectual disability, developmental delay, and multiple congenital anomalies. Recently developed analytical methods have facilitated the identification of smaller CNVs.

A neutralizable dimeric anti-thrombin aptamer with potent anticoagulant activity in mice.

Heparin-induced thrombocytopenia (HIT) is a complication caused by administration of the anticoagulant heparin. Although the number of patients with HIT has drastically increased because of coronavirus disease 2019 (COVID-19), the currently used thrombin inhibitors for HIT therapy do not have antidotes to arrest the severe bleeding that occurs as a side effect; therefore, establishment of safer treatments for HIT patients is imperative. Here, we devised a potent thrombin inhibitor based on bivalent aptamers with a higher safety profile via combination with the antidote.

Steric hindrance and structural flexibility shape the functional properties of a guanine-rich oligonucleotide.

Ligand/protein molecular recognition involves a dynamic process, whereby both partners require a degree of structural plasticity to regulate the binding/unbinding event. Here, we present the characterization of the interaction between a highly dynamic G-rich oligonucleotide, M08s-1, and its target protein, human α-thrombin. M08s-1 is the most active anticoagulant aptamer selected thus far.

Demonstration of a Bosonic Quantum Classifier with Data Reuploading.

In a single qubit system, a universal quantum classifier can be realized using the data reuploading technique. In this study, we propose a new quantum classifier applying this technique to bosonic systems and successfully demonstrate it using a silicon-based photonic integrated circuit. We established a theory of quantum machine learning algorithm applicable to bosonic systems and implemented a programmable optical circuit combined with an interferometer.

Ultra-fast Hong-Ou-Mandel interferometry via temporal filtering.

Heralded single photons (HSPs) generated by spontaneous parametric down-conversion (SPDC) are useful resource to achieve various photonic quantum information processing. Given a large-scale experiment which needs multiple HSPs, increasing the generation rate with suppressing higher-order pair creation is desirable. One of the promising ways is to use a pump laser with a GHz-order repetition rate.

Independently programmable frequency-multiplexed phase-sensitive optical parametric amplification in the optical telecommunication band.

We experimentally demonstrate programmable multimode phase-sensitive amplification multiplexed in the frequency domain for flexible control of parallelly generated squeezed states. We utilize the unique phase-matching condition of a type-II periodically poled potassium titanyl phosphate (PPKTP) crystal and pulse shaping technique to fully control the frequency-domain parallel generation of squeezed states in the optical telecommunication band. We experimentally verify that the independent programmability of phase-sensitive optical parametric amplification (OPA) for the modes corresponding to different frequency bands can be achieved by shaping the pump laser pulse from optical parametric gain measurements using a coherent probe light generated by a degenerate synchronously pumped optical parametric oscillator.

A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2.

Silver-Russell syndrome (SRS) is a congenital disorder characterized by prenatal and postnatal growth failure and craniofacial features. Hypomethylation of the H19/IGF2:IG-differential methylated region (H19LOM) is observed in 50% of SRS patients, and 15% of SRS patients with H19LOM had multilocus imprinting disturbance (MLID). Schimke immuno-osseous dysplasia (SIOD), characterized by spondyloepiphyseal dysplasia and nephropathy, is an autosomal recessive disorder caused by mutations in SMARCAL1 on chromosome 2.

Bcl11b is required for proper odorant receptor expression in the mouse septal organ.

Individual olfactory sensory neurons (OSNs) in the mouse main olfactory epithelium express a single odorant receptor (OR) gene from the repertoire of either class I or class II ORs. The transcription factor Bcl11b determines the OR class to be expressed in OSNs. The septal organ (SO), a small neuroepithelium located at the ventral base of the nasal septum, is considered as an olfactory subsystem because it expresses a specific subset of ORs.

Ultra-high-rate nonclassical light source with 50 GHz-repetition-rate mode-locked pump pulses and multiplexed single-photon detectors.

Heralded single photons (HSPs) and entangled photon pairs (EPPs) via spontaneous parametric down-conversion are essential tools for the development of photonic quantum information technologies. In this paper, we report a novel ultra-high-rate nonclassical light source realized by developing 50 GHz-repetition-rate mode-locked pump pulses and multiplexed superconducting nanowire single-photon detectors. The presence of the single-photon state in the heralded photons with our setup was indicated by the second-order intensity correlation below 1/2 at the heralding rate over 20 Mcps.

Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of -Associated Hearing Loss.

The gene (Locus: DFNB22) is reported to be one of the causative genes for non-syndromic autosomal recessive hearing loss. The copy number variations (CNVs) identified in this gene are also known to cause hearing loss, but have not been identified in Japanese patients with hearing loss. Furthermore, the clinical features of -associated hearing loss have not yet been clarified.

Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome.

Complex rearrangements of chromosomes 3 and 9 were found in a patient presenting with severe epilepsy, developmental delay, dysmorphic facial features, and skeletal abnormalities. Molecular cytogenetic analysis revealed 46,XX.ish der(9)(3qter→3q28::9p21.

High Enrichment of Nucleobase-modified Aptamers in Early Selection Rounds by Microbeads-assisted Capillary Electrophoresis SELEX.

Nucleobase-modified aptamers are attractive candidates for diagnostic and therapeutic agents due to the high affinity, stability and functionality. However, since even conventional SELEX requires many selection rounds, acquisition of modified aptamers is much more laborious. Herein, microbeads-assisted capillary electrophoresis (MACE)-SELEX was applied against thrombin using the indole-modified DNA library.

PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.

PIEZO2 encodes a mechanically activated cation channel, which is abundantly expressed in dorsal root ganglion neuron and sensory endings of proprioceptors required for light touch sensation and proprioception in mice. Biallelic loss-of-function mutations in PIEZO2 (i.e.

Frequency and clinical features of hearing loss caused by STRC deletions.

Sensorineural hearing loss is a common deficit and mainly occurs due to genetic factors. Recently, copy number variants (CNVs) in the STRC gene have also been recognized as a major cause of genetic hearing loss. We investigated the frequency of STRC deletions in the Japanese population and the characteristics of associated hearing loss.

Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter.

We report on a Japanese female infant as the fourth patient with the constitutional pure duplication 1q41-qter confirmed by chromosomal microarray and as the first who developed myelodysplastic syndrome (MDS) among those with the constitutional 1q duplication. Common clinical features of the constitutional pure duplication 1q41-qter include developmental delay, craniofacial characteristics, foot malformation, hypertrichosis, and respiratory insufficiency. The association between MDS and the duplication of the genes in the 1q41-qter region remains unknown.