The yellow-green leaf mutant has a non-lethal chlorophyll-deficient mutation that can be exploited in photosynthesis and plant development research. A novel derived from Triticum durum var. Cappelli displays color the seedling stage to mature stage. Examination of chloroplasts with transmission electron microscopy revealed shape chloroplast changed, grana stacks stroma were highly variable size disorganized. pigment content, including chlorophyll a, b, total carotene, was decreased mutant....

Stress resistance has repeatedly been enhanced in plants by the transfer of a single gene using genetic engineering. However, further enhancement to abiotic stress is still necessary. In our research, maize that were transgenic for both betA (encoding choline dehydrogenase from Escherichia coli) and TsVP V-H+ -PPase Thellungiella halophila) produced cross-pollination. The existence transgenes pyramided was demonstrated PCR Southern blotting. stable expression confirmed real-time RT-PCR...

Two LMNA mutations (R644C and R190W) have been associated with familial sporadic left ventricular non-compaction (LVNC). However, the mechanisms underlying these associations not elucidated. Genomic DNA was isolated from peripheral blood leucocytes analysed by direct sequencing. Human embryonic kidney 293 cells were transfected either wild type or mutant SCN5A for whole-cell patch-clamp experiment fluorescence microscopy. Point mutation modeling also performed. One novel LVNC-associated...

Abstract Background Wilson's disease (WD) is an autosomal recessive genetic caused by mutations in ATP7B and characterized copper metabolism disorders. Methods Direct sequencing of the gene most sensitive widely used confirmatory testing method. Fourteen probands with WD 12 family members participated this study. The was analyzed direct sequencing. Results Twenty‐nine different variants (27 substitutions, 1 duplication, deletion) were found. Of 23 reported variants, nine nondisease 11 one...

CRISPR/Cpf1 has emerged recently as an effective tool for genome editing in many organisms, but its use pigs to generate precise genetic modifications seldom been described. Myostatin (MSTN) is a well-characterized negative regulator of muscle development, and natural mutations this gene cause double-muscled phenotype species. However, the best our knowledge, no naturally occurring mutation MSTN found pigs. In addition, living pig models with sophisticated orthologous have yet reported....

Genetic defects in the mitochondrial aminoacyl-tRNA synthetase are important causes of disorders. VARS2 is one genes encoding synthetases. Recently, an increasing number pathogenic variants have been reported. We report novel compound heterozygous mutations c.643 C > T (p. His215Tyr) and c.1354 A G Met452Val) a female infant who presented with poor sucking at birth, activity, hyporeflexia, hypertonia, persistent pulmonary hypertension newborn (PPHN), metabolic acidosis, severe lactic...

The objective of this study was to investigate polymorphisms BMPRIB (bone morphogenetic protein type IB receptor) gene and its effect on litter size traits in sheep. Three populations including 101 Small Tailed Han sheep, 79 Poll Dorset 81 hybrids (Poll DorsetxSmall sheep) were used detect the exon 6 region sheep gene. A fragment approximately 190bp amplified by one pair primers, polymorphism revealed from analysis three technique PCR -SSCP, a mutation G at 746 coding confirmed sequencing...

Abstract Background Due to inconsistencies with reported myofibrillar myopathy (MFM), including autosomal dominant inheritance, late onset and a slowly progressive course, the severe, recessively inherited form of CRYAB (alpha‐B crystallin) gene‐related infantile MFM has been suggested. Here, we report an infant in Chinese family fatal neonatal‐onset hypertonic novel homozygous variant (c.3G > A (p.Met1?)) . Methods Muscle biopsy indicated that muscle fibers showed uniformly small...

Background Point-of-care ultrasound (POCUS) can guide umbilical vein catheter placement in real time and monitor tip position, allowing avoidance of severe complications due to malposition. This study aims explore the effectiveness POCUS guiding venous insertion monitoring complications. Methods Sixty-eight neonates with ultrasound-guided at Neonatal Department Dongguan Children's Hospital between December 2020 February 2022 were included. was applied location daily until removal. A...

Abstract Background Gene knockout and knock-in have been widely performed in large farm animals based on genome editing systems. However, many types of precise gene editing, including targeted deletion, tagging, fragment replacement, remain a challenge animals. Results Here, we established versatile self-excising gene-targeting technology combination with programmable nucleases (SEGCPN) to efficiently generate various bovine. First, used this method successfully bovine embryos point...

Abstract Real-time PCR amplification of mitochondria gene could not be used for DNA quantification, and that single copy did allow an ideal sensitivity. Moreover, cross-reactions among similar species were commonly observed in the published methods amplifying repetitive sequence, which hindered their further application. The purpose this study was to establish a short interspersed nuclear element (SINE)-based real-time approach having high specificity detection quantification. After massive...

Abstract Improving the sensitivity of protein-protein interaction detection and protein structure probing is a principal challenge in cross-linking mass spectrometry (XL-MS) data analysis. In this paper, we propose an exhaustive search method with feedback (ECL-PF) for cleavable XL-MS ECL-PF adopts optimized α/β scheme establishes protein-peptide association during identification cross-linked peptides. Existing major scoring functions can all benefit from workflow to great extent....