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1.
Stem Cell Res ; 77: 103424, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38677032

ABSTRACT

Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) is an ultra-rare autosomal recessive neurometabolic disorder caused by ALDH5A1 mutations presenting with autism and epilepsy. Here, we report the generation and characterization of human induced pluripotent stem cells (hiPSCs) derived from fibroblasts of three unrelated SSADHD patients - one female and two males with the CRISPR-corrected isogenic controls. These individuals are clinically diagnosed and are being followed in a longitudinal clinical study.


Subject(s)
Induced Pluripotent Stem Cells , Succinate-Semialdehyde Dehydrogenase , Humans , Induced Pluripotent Stem Cells/metabolism , Male , Female , Succinate-Semialdehyde Dehydrogenase/deficiency , Succinate-Semialdehyde Dehydrogenase/genetics , Succinate-Semialdehyde Dehydrogenase/metabolism , Amino Acid Metabolism, Inborn Errors/genetics , Amino Acid Metabolism, Inborn Errors/pathology , Cell Line , Clustered Regularly Interspaced Short Palindromic Repeats/genetics , CRISPR-Cas Systems , Developmental Disabilities
2.
J Opt Soc Am A Opt Image Sci Vis ; 41(3): 392-395, 2024 Mar 01.
Article in English | MEDLINE | ID: mdl-38437426

ABSTRACT

An all-fiber temperature sensor employing intentional refractive index modulation is experimentally demonstrated. The sensor consists of four sections of polarization maintaining fiber (FPMF) sandwiched between multi-mode fiber (MMF). The stress region of two sections of polarization maintaining fibers (PMFs) is aligned and then anti-clockwise rotates one PMF in 10 deg angles while the other keeps still. Finally, the discharge proceeds. The remaining two PMFs are fusion spliced with the same method. Then the prepared FPMF-MMF structure is connected to the 3 dB coupler to construct a Sagnac loop. The temperature sensitivity reaches 1.49 nm/°C for a temperature range from 16°C to 55°C. The proposed temperature sensor with easy fabrication and good linearity in measuring temperature can be a promising candidate for various applications in environmental monitoring and industrial production.

3.
Open Life Sci ; 18(1): 20220612, 2023.
Article in English | MEDLINE | ID: mdl-37528883

ABSTRACT

Flowering in off-season longan (Dimocarpus longan L.) can be induced effectively by the application of potassium chlorate (KClO3), but the mechanism of the physiological induction is largely unknown to decipher its mechanism and identify genes potentially regulating the process, and comparative analysis via RNA-Seq was performed between vegetative and KClO3-induced floral buds. A total of 18,649 differentially expressed genes (DEGs) were identified between control and treated samples. Gene ontology and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis revealed that DEGs related to plant hormone signal transduction, mitogen-activated protein kinase (MAPK) signaling pathway, starch and sucrose metabolism, and phenylpropanoid biosynthesis were enriched in our data. A total of 29 flowering-related DEGs were identified in our study, such as APETALA1 (AP1), APETALA2 (AP2), AUXIN RESPONSE FACTOR 3/ETTIN (ARF3), SQUAMOSA PROMOTER BINDING PROTEIN-LIKE 8 (SPL8), AGAMOUS (AG), and others. The upregulation of AP2 and SPL genes indicates that the age-related pathway is activated and influences the floral induction in KClO3-induced longan floral buds by coordinated regulation of genes related to AP1, AG, and ARF3. This study provides a valuable resource for studying molecular mechanisms underlying chlorate-induced floral transition in off-season longan, which may benefit the development and production of off-season tropical/subtropical fruit trees.

4.
Plant J ; 108(4): 1037-1052, 2021 11.
Article in English | MEDLINE | ID: mdl-34519122

ABSTRACT

Rambutan is a popular tropical fruit known for its exotic appearance, has long flexible spines on shells, extraordinary aril growth, desirable nutrition, and a favorable taste. The genome of an elite rambutan cultivar Baoyan 7 was assembled into 328 Mb in 16 pseudo-chromosomes. Comparative genomics analysis between rambutan and lychee revealed that rambutan chromosomes 8 and 12 are collinear with lychee chromosome 1, which resulted in a chromosome fission event in rambutan (n = 16) or a fusion event in lychee (n = 15) after their divergence from a common ancestor 15.7 million years ago. Root development genes played a crucial role in spine development, such as endoplasmic reticulum pathway genes, jasmonic acid response genes, vascular bundle development genes, and K+ transport genes. Aril development was regulated by D-class genes (STK and SHP1), plant hormone and phenylpropanoid biosynthesis genes, and sugar metabolism genes. The lower rate of male sterility of hermaphroditic flowers appears to be regulated by MYB24. Population genomic analyses revealed genes in selective sweeps during domestication that are related to fruit morphology and environment stress response. These findings enhance our understanding of spine and aril development and provide genomic resources for rambutan improvement.


Subject(s)
Fruit/genetics , Gene Regulatory Networks/genetics , Genome, Plant/genetics , Sapindaceae/genetics , Transcriptome , Adaptation, Physiological , Domestication , Flowers/genetics , Flowers/growth & development , Fruit/growth & development , Gene Expression Profiling , Genomics , Glucosides/biosynthesis , Hydrolyzable Tannins , Molecular Sequence Annotation , Photosynthesis , Sapindaceae/growth & development , Species Specificity , Taste
5.
Front Plant Sci ; 6: 360, 2015.
Article in English | MEDLINE | ID: mdl-26074931

ABSTRACT

Cutting off carbohydrate supply to longan (Dimocarpus longan Lour.) fruit by girdling and defoliation or by detachment induced 100% abscission within a few days. We used these treatments to study the involvement of reactive oxygen species (ROS) in fruit abscission. Girdling plus defoliation decreased sugar concentrations in the fruit and pedicel and depleted starch grains in the chloroplasts in the cells of abscission zone. Prior to the occurrence of intensive fruit abscission, there was a burst in ROS in the pedicel, which peaked at 1 day after treatment (DAT), when H2O2 in the abscission zone was found to be chiefly located along the plasma membrane (PM). H2O2 was found exclusively in the cell walls 2 DAT, almost disappeared 3 DAT, and reappeared in the mitochondria and cell walls 4 DAT. Signs of cell death such as cytoplasm breakdown were apparent from 3 DAT. The burst of ROS coincided with a sharp increase in the activity of PM-bound NADPH oxidase in the pedicel. At the same time, activities of antioxidant enzymes including superoxide dismutase (SOD), catalase, and peroxidase (POD) were all increased by the treatment and maintained higher than those in the control. Accompanying the reduction in H2O2 abundance, there was a sharp decrease in PM-bound NADPH oxidase activity after 1 DAT in the treated fruit. H2O2 scavenger dimethylthiourea (DMTU, 1 g L(-1)) significantly inhibited fruit abscission in detached fruit clusters and suppressed the increase in cellulase activity in the abscission zone. These results suggest that fruit abscission induced by carbohydrate stress is mediated by ROS. Roles of ROS in regulating fruit abscission were discussed in relation to its subcellular distribution.

6.
Appl Nurs Res ; 26(4): 257-62, 2013 Nov.
Article in English | MEDLINE | ID: mdl-24035222

ABSTRACT

AIMS: To describe the retention of rural women in the Rural Breast Cancer Survivors (RBCS) Intervention. BACKGROUND: Few studies describe strategies and procedures for retention of participants enrolled in cancer research. Fewer studies focus on underserved rural cancer survivors. METHODS: A descriptive design was used. A conceptual model of retention based on three factors: researcher, participant, and context with primary, secondary, and tertiary strategies was used to unify the data. RESULTS: 432 women enrolled in the RBCS study, of which 332 (77%) were retained and completed the 12 month study. Favorable retention strategies included: run-in period, persistent attempts to re-contact hard to reach, recruitment and enrollment tracking database, and a trusting and supportive relationship with the research nurse. CONCLUSION: A conceptual model of retention with differential strategies can maintain participant retention in a longitudinal research study.


Subject(s)
Breast Neoplasms/pathology , Rural Population , Survivors , Female , Humans , Longitudinal Studies , Models, Theoretical
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