ssDNA is not superior to dsDNA as long HDR donors for CRISPR-mediated endogenous gene tagging in human diploid RPE1 and HCT116 cells.

Background: Recent advances in CRISPR technology have enabled us to perform gene knock-in in various species and cell lines. CRISPR-mediated knock-in requires donor DNA which serves as a template for homology-directed repair (HDR). For knock-in of short sequences or base substitutions, ssDNA donors are frequently used among various other forms of HDR donors, such as linear dsDNA.

Development of a novel microarray data analysis tool without normalization for genotyping degraded forensic DNA.

Since the arrest of the Golden State Killer in the US in April 2018, forensic geneticists have been increasingly interested in the investigative genetic genealogy (IGG) method. While this method has already been in practical use as a powerful tool for criminal investigation, we have yet to know well the limitations and potential risks. In this current study, we performed an evaluation study focusing on degraded DNA using the Affymetrix Genome-Wide Human SNP Array 6.

A CRISPR-del-based pipeline for complete gene knockout in human diploid cells.

The advance of CRISPR/Cas9 technology has enabled us easily to generate gene knockout cell lines by introducing insertion-deletion mutations (indels) at the target site via the error-prone non-homologous end joining repair system. Frameshift-promoting indels can disrupt gene functions by generation of a premature stop codon. However, there is growing evidence that targeted genes are not always knocked out by the indel-based gene disruption.

Practical forensic use of kinship determination using high-density SNP profiling based on a microarray platform, focusing on low-quantity DNA.

Instead of traditional short tandem repeat (STR) profiling, the genetic genealogy method, which uses hundreds of thousands of single nucleotide polymorphisms (SNPs) spread across genome-wide, has emerged as a powerful kinship determination tool and recently attracted great attention in forensic genetics. In this study, we explored the tolerance and viability of kinship discrimination based on a high-density SNP profile for forensic DNA, especially focusing on low-quantity DNA. Using the Affymetrix Genome-Wide Human SNP Array 6.

Cuticle permeability is an important parameter for the trade-off strategy between drought tolerance and CO uptake in land plants.

To protect against water loss, land plants have developed the cuticle; however, the cuticle strongly restricts CO uptake for photosynthesis. Controlling this trade-off relationship is an important strategy for plant survival, but the extent to which the changes in cuticle affects this relationship is not clear. To evaluate this, we measured CO assimilation rate and transpiration rate together in the mutant (), which exhibited marked evaporative water loss due to an increased cuticle permeability caused by a new allele of ().

Enhanced NRT1.1/NPF6.3 expression in shoots improves growth under nitrogen deficiency stress in Arabidopsis.

Identification of genes and their alleles capable of improving plant growth under low nitrogen (N) conditions is key for developing sustainable agriculture. Here, we show that a genome-wide association study using Arabidopsis thaliana accessions suggested an association between different magnitudes of N deficiency responses and diversity in NRT1.1/NPF6.

Severe coronavirus disease pneumonia in a pregnant woman at 25 weeks' gestation: A case report.

There are numerous reports on the effects of the coronavirus disease on mothers and fetuses during pregnancy. It is currently unknown whether pregnancy is associated with a high risk of severe coronavirus disease. We report a pregnant patient with coronavirus disease who underwent a cesarean section.

Prenatal diagnosis of fetal skeletal dysplasia using 3-dimensional computed tomography: a prospective study.

Background: Fetal skeletal dysplasia (FSD) comprises a complex group of systemic bone and cartilage disorders. Many FSD phenotypes have indistinct definitions, making definitive prenatal diagnosis difficult. The condition is typically diagnosed using sonography; however, three-dimensional computed tomography (3D-CT) also aids in making a prenatal diagnosis.

Increased Cuticle Permeability Caused by a New Allele of - Enhances CO Uptake.

Carbon dioxide (CO) is an essential substrate for photosynthesis in plants. CO is absorbed mainly through the stomata in land plants because all other aerial surfaces are covered by a waxy layer called the cuticle. The cuticle is an important barrier that protects against extreme water loss; however, this anaerobic layer limits CO uptake.

Telediagnosis system for congenital heart disease in a Japanese prefecture.

Purpose: This study aimed to evaluate the accuracy of prenatal diagnosis using a spatio-temporal image correlation-based telediagnosis system at a tertiary referral unit in a Japanese prefecture over a 9-year period, and to investigate the validity of delivery hospital selection.

Methods: This study retrospectively analyzed telediagnosis cases from 2009 to 2018 in six geographically remote hospitals. We built a telediagnosis system called the Kyoto Fetal Ultrasonographic Telediagnosis System (K-FUTS).

Functional characterization of NADPH-cytochrome P450 reductase and cinnamic acid 4-hydroxylase encoding genes from Scoparia dulcis L.

Background: Most plant cytochrome P450 (P450) proteins need to be supplied with electrons from a redox partner, e.g. an NADPH-cytochrome P450 reductase (CPR), for the activation of oxygen molecules via heme.

Influence of preoperative light vaginal bleeding for perinatal adverse outcomes on physical examination-indicated cerclage.

Purpose: To clarify the relationship between light vaginal bleeding (LVB) before physical examination-indicated cerclage (PEIC) and perinatal adverse outcomes.

Methods: This was a retrospective cohort study involving 94 singleton pregnancies undergoing PEIC <26 weeks of gestation at a single perinatal medical center between 2008 and 2015. The primary outcome was set as spontaneous preterm birth (sPTB) <34 weeks of gestation.

A phytochrome-B-mediated regulatory mechanism of phosphorus acquisition.

Phosphorus (P) is a key macronutrient whose availability has a profound effect on plant growth and productivity. The understanding of the mechanism underlying P availability-responsive P acquisition has expanded largely in the past decade; however, effects of other environmental factors on P acquisition and utilization remain elusive. Here, by imaging natural variation in phosphate uptake in 200 natural accessions of Arabidopsis, we identify two accessions with low phosphate uptake activity, Lm-2 and CSHL-5.

Identification of a two-SNP PLA2R1 Haplotype and HLA-DRB1 Alleles as Primary Risk Associations in Idiopathic Membranous Nephropathy.

The associations of single nucleotide polymorphisms (SNPs) in PLA2R1 and HLA-DQA1, as well as HLA-DRB1*15:01-DQB1*06:02 haplotype with idiopathic membranous nephropathy (IMN) is well known. However, the primary associations of these loci still need to be determined. We used Japanese-specific SNP genotyping array and imputation using 2,048 sequenced Japanese samples to fine-map PLA2R1 region in 98 patients and 413 controls.

Transient amniotic fluid leakage after fetoscopic laser photocoagulation for twin-twin transfusion syndrome.

Aim: Iatrogenic premature rupture of membrane (PROM) is one of the major complications related to fetoscopic laser photocoagulation (FLP) for twin-twin transfusion syndrome (TTTS). However, amniotic fluid leakage (AFL) sometimes spontaneously disappears. This study evaluated the incidence and clinical characteristics of transient AFL after FLP.

High-density Association Mapping and Interaction Analysis of PLA2R1 and HLA Regions with Idiopathic Membranous Nephropathy in Japanese.

Although recent studies showed anti-PLA2R antibody plays a crucial role in idiopathic membranous nephropathy (IMN), detailed HLA mapping and interaction between the HLA genes and PLA2R1 have not been investigated in IMN. We genotyped across the PLA2R1 gene and the HLA region, using 183 IMN patients and 811 healthy controls. Five SNPs around the PLA2R1 gene were significantly associated with IMN.

Delayed liver regeneration in C3H/HeJ mice: possible involvement of haemodynamic and structural changes in the hepatic microcirculation.

What is the central question of this study? The liver regenerative process is complex and involves a sequence of signalling events, but the possible involvement of structural and haemodynamic changes in vivo during this process has never been explored. What is the main finding and its importance? Normal sinusoidal blood flow and velocity are crucial for a normal regenerative response, and delays in these haemodynamic events resulted in impaired liver regeneration in lipopolysaccharide-insensitive, C3H/HeJ mice. Toll-like receptor 4 signalling is required for restoration of normal liver architecture during the liver regenerative process.

Perinatal outcome of monochorionic diamniotic twin pregnancies complicated with isolated amniotic fluid volume abnormality of one twin less than 26 weeks of gestation.

Aim: To evaluate the incidence of twin-twin transfusion syndrome (TTTS) and the perinatal outcome at 28 days of age in monochorionic diamniotic (MCDA) pregnancies complicated with isolated polyhydramnios (I-Poly) and isolated oligohydramnios (I-Oligo) diagnosed < 26 weeks of gestation.

Methods: This was a retrospective study of women with MCDA pregnancies diagnosed with I-Poly or I-Oligo before 26 weeks of gestation over a period of six years. The incidence of subsequent TTTS and neonatal outcome in terms of intact survival (IS) at 28 days of age were evaluated.

Erratum: Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals.

[This corrects the article DOI: 10.1038/hgv.2015.

Identification of ITPA on chromosome 20 as a susceptibility gene for young-onset tuberculosis.

Tuberculosis (TB) is a complex disease, and both genetic and environmental factors contribute to disease progression. A previous genome-wide linkage study in Thailand determined that chromosome 20p13-12.3 may contain risk factors for young-onset disease.