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  • Open Access

    ARTICLE

    Factors Affecting the Genetic Diagnostic Rate in Congenital Heart Disease

    Jun Sung Park1, Go Hun Seo2, Yunha Choi1, Soojin Hwang1, Minji Kang3, Hyo-Sang Do3, Young-Hwue Kim4, Jeong Jin Yu4, Ellen Ai-Rhan Kim5, Euiseok Jung5, Byong Sop Lee5, Jae Suk Baek4, Beom Hee Lee1,6,*

    Congenital Heart Disease, Vol.17, No.6, pp. 653-673, 2022, DOI:10.32604/chd.2022.021580

    Abstract Background: Over 400 genes contribute to the development of congenital heart disease (CHD). Additionally, multisystemic manifestations accompanying syndromic CHD pose a higher risk of genetic diseases. This study investigated the diagnostic yield of whole-exome sequencing (WES) in patients with sporadic syndromic CHD and the phenotypic factors affecting the genetic diagnostic rate. Methods: Sixty-four patients with sporadic syndromic CHD aged <18 years underwent WES between May 2018 and December 2020 in a single tertiary center, and the association between genetic testing data and extracardiac phenotypes was analyzed. Results: Extracardiac phenotypes were measured as 3.66 ± 3.05 (standard deviation, interquartile range: 2–5)… More > Graphic Abstract

    Factors Affecting the Genetic Diagnostic Rate in Congenital Heart Disease

  • Open Access

    ARTICLE

    Molecular Basis of Unique Branching Phenotypes in Salvia splendens and the Role of PSY

    Peipei Hong1,#, Mei Wang2,#, Liting Zhi2, Hongwei Chen2,3,4,*, Kefeng Liu1, Hongli Wang2

    Phyton-International Journal of Experimental Botany, Vol.91, No.6, pp. 1211-1226, 2022, DOI:10.32604/phyton.2022.018435

    Abstract The branching system of higher plants plays a very important role in plant morphogenesis, and the number of branches can directly affect crop yield and the ornamental value of plants. It is a complicated development process involving complex molecular mechanisms. The ‘Cailinghong’ variety of Salvia splendens is characterized by its great branching ability with the ability to grow into a spherical form naturally, without pinching. To gain insight into the molecular events during the branching development of S. splendens, suppressive subtractive hybridization (SSH) technology was used to screen differentially expressed genes between the erect plant type (strain 35) and the… More >

  • Open Access

    ARTICLE

    Phenotype, Physiology, and Gene Expression of Barley Seedlings in Response to Nano Zinc Oxide Stress

    Mengyuan Dong#, Rong Sun#, Qianhui Yang, Lantian Zhang, Yangying Yong, Yunxia Fang, Xian Zhang, Xiaoqin Zhang*, Dawei Xue*

    Phyton-International Journal of Experimental Botany, Vol.90, No.6, pp. 1589-1598, 2021, DOI:10.32604/phyton.2021.017465

    Abstract In recent years, zinc oxide nanoparticles (ZnO NPs) have been widely used as zinc fertilizers and pesticides. The use of ZnO NPs in this way can provide benefits to humans, but also has potential risks. ZnO NPs inevitably enter the environment during their production and use, which affects the ecological environment and crop growth. In order to investigate the phenotype, physiology, and gene expression of barley (Hordeum vulgare L.) seedlings under ZnO NPs stress, the barely cultivars ZJU3 (P21), Golden Promise (GP) and L23 were chosen for study. Different ZnO NPs concentrations were applied to compare the physiological and biochemical… More >

  • Open Access

    ARTICLE

    Phenotype Analysis and Fine Mapping of the Male Sterile Mutant ms10 in Rice (Oryza sativa L.)

    Gang Wei#, Hongxia Yang#, Jingwen Wu, Zixian Xiong, Nan Wang*

    Phyton-International Journal of Experimental Botany, Vol.90, No.3, pp. 803-813, 2021, DOI:10.32604/phyton.2021.014505

    Abstract There is a positive correlation between fertility and yield, and the decrease of fertility is bound to a greatly reduced crop yield. Male sterile mutants can be used in hybrid rice. Therefore, rice male sterility has an important value in research and application, and the study of related mutants is also very vital. The mutant ms10 (male sterile 10) reported in this study was induced by ethyl methane sulfonate (EMS) in the indica maintainer line Xinong 1B. There was no significant difference between the ms10 and wild type in the vegetative growth stage. However, in the reproductive growth stage, ms10More >

  • Open Access

    ARTICLE

    The Investigation of Genotype-Phenotype Relationship in Multiple Primary Malignant Neoplasia Patients

    Neslihan Duzkale1,*, Emine Demıral2

    Oncologie, Vol.22, No.4, pp. 225-234, 2020, DOI:10.32604/oncologie.2020.014120

    Abstract Multiple primary malignant neoplasms (MPMN) are rare tumors that have attracted attention with increasing incidence rates in recent years and where cancer susceptibility genes may play a role in their etiology. In this study, it was aimed to determine the genotype-phenotype correlation in patients with MPMN. From January 2018 to January 2020, thirty patients were analyzed for 59 cancer susceptibility genes and diagnosed with MPMN, using a large multigene panel with Next Generation Sequencing technique (NGS) in Turkey. The mean age of first and second cancer diagnosis of cases were calculated as 42.5 and 49.9 (respectively). These primary cancers were… More >

  • Open Access

    ARTICLE

    Bicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC Registry

    Joseph M. Krepp1, Mary J. Roman2, Richard B. Devereux2, Adrienne Bruce1, Siddharth K. Prakash3, Shaine A. Morris4, Dianna M. Milewicz3, Kathryn W. Holmes5, William Ravekes5, Ralph V. Shohet6, Reed E. Pyeritz7, Cheryl L. Maslen8, Barbara L. Kroner9, Kim A. Eagle10, Liliana Preiss9, GenTAC Investigators*, Federico M. Asch1

    Congenital Heart Disease, Vol.12, No.6, pp. 740-745, 2017, DOI:10.1111/chd.12520

    Abstract Background: Unicuspid aortic valve (UAV) is a rare disorder, often difficult to distinguish from bicuspid aortic valve (BAV). BAV and UAV share valve pathology such as the presence of a raphe, leaflet fusion, aortic stenosis, aortic regurgitation, and/or ascending aortic dilatation, but a comprehensive echocardiographic comparison of patients with UAV and BAV has not been previously performed.
    Methods: We investigated UAV and BAV patients at an early stage of disease included in GenTAC, a national registry of genetically related aortic aneurysms and associated cardiac conditions. Clinical and echocardiographic data from the GenTAC Registry were compared between 17 patients with UAV… More >

  • Open Access

    ARTICLE

    Epithelial-mesenchymal transition contributes to malignant phenotypes of circulating tumor cells derived from gastric cancer

    Tiangen WU1, Tianhao BAO2,3, Daoming LIANG1,*, Lin WANG4,*

    BIOCELL, Vol.43, No.4, pp. 293-298, 2019, DOI:10.32604/biocell.2019.07841

    Abstract Circulating tumor cells (CTCs) are crucial to tumor metastasis, and they usually undergo epithelial– mesenchymal transition (EMT) in order to disseminate from the primary tumor. However, very little is currently known about the relationship between EMT and malignant phenotypes of CTCs in the context of gastric cancer. Therefore, this study aimed to investigate the contribution of EMT to malignant phenotypes of CTCs derived from gastric cancer cells. We xenografted MKN28 gastric cancer cells pretreated with transforming growth factor-beta 1 (TGFβ-1) into nude mice by intravenous injection. Next, we isolated CTCs from the blood of nude mice by gradient centrifugation and… More >

  • Open Access

    ARTICLE

    Phenotype variation of chile morphotypes (Capsicum annuum L.) native to Oaxaca, Mexico

    Castellón Martínez E1, JC Carrillo-Rodríguez1, JL Chávez-Servia2, AM Vera-Guzmán2

    Phyton-International Journal of Experimental Botany, Vol.83, pp. 225-236, 2014, DOI:10.32604/phyton.2014.83.225

    Abstract Farmers’ role is important for the selection and conservation of the local diversity of native peppers (Capsicum annuum L.), which are distinguished by pod shape, plant traits, and show high levels of biogeographic and cultural heterogeneity. Our objective was to evaluate the phenotypic variation and postharvest changes of fruits in six morphotypes of native peppers from the Central Valleys of Oaxaca, Mexico. This would contribute information on the diversity of pepper landraces. Collection and characterization of plant and fruits were undertaken for 52 samples grouped into six morphotypes, under a completely randomized block design with three repetitions under greenhouse conditions.… More >

  • Open Access

    ABSTRACT

    Differential Organization of Airway Smooth Muscle Cells on Tubular Surface as A Novel Mechanobiology Mechanism of Airway Tissue Morphogenesis

    Linhong Deng1,*, Yang Jin2, Mingzhi Luo1

    Molecular & Cellular Biomechanics, Vol.16, Suppl.2, pp. 80-80, 2019, DOI:10.32604/mcb.2019.07370

    Abstract Airway smooth muscle cells (ASMCs) exists within the bronchial airway wall in a form of spirally winding bundles [1]. This pattern emerges early during embryonic development and is involved in airway branching [2], providing the airway appropriate contractile capacity and resistance to circumferential tension in health or causing excessive airway narrowing in disease such as asthma. Despite its importance, the cause of ASMCs self-organization remains largely a mystery. Previously, we have demonstrated in 2D that ASMCs can sense the curvature in their microenvironment and change behaviors in differentiation, orientation and migration accordingly [3]. Here we further explore in 3D microenvironment… More >

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