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https://www.readbyqxmd.com/read/30329053/hematopoietic-and-neural-crest-defects-in-zebrafish-shoc2-mutants-a-novel-vertebrate-model-for-noonan-like-syndrome
#1
HyeIn Jang, Erin Oakley, Marie Forbes-Osborne, Melissa Kesler, Rebecca Norcross, Ann C Morris, Emilia Galperin
The extracellular signal-related kinase 1 and 2 (ERK1/2) pathway is a highly conserved signaling cascade with numerous essential functions in development. The scaffold protein Shoc2 amplifies the activity of the ERK1/2 pathway, and is an essential modulator of a variety of signaling inputs. Germline mutations in Shoc2 are associated with the human developmental disease known as Noonan-like syndrome with loose anagen hair (NSLH). Clinical manifestations of this disease include congenital heart defects, developmental delays, distinctive facial abnormalities, reduced growth and cognitive deficits along with hair anomalies...
October 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/30323271/conditional-deletion-of-platelet-derived-growth-factor-receptor-alpha-pdgfra-in-urorectal-mesenchyme-causes-mesenchyme-apoptosis-and-urorectal-developmental-anomalies-in-mice
#2
Chen Qian, Zhongluan Wu, Roy Chun-Laam Ng, Maria-Mercè Garcia-Barceló, Zheng-Wei Yuan, Kenneth Kak Yuen Wong, Paul Kwong Hang Tam, Vincent Chi Hang Lui
In mammals, urorectal development starts at early embryonic stage, defective urorectal development results in anorectal malformations, which are common congenital developmental defects of the anus and the urethra in newborns. The etiology and embryology of the defects are still largely unknown. Platelet-derived growth factor receptor alpha (Pdgfra) is a cell surface receptor tyrosine kinase, upon binding to its ligands (Pdgfa-d), mediates intracellular signaling and regulates embryonic development. The expression of Pdgfra is tightly regulated in the developing urorectal mesenchyme, and its dysregulation is associated with urorectal defects in animals with urorectal defects...
October 15, 2018: Cell Death and Differentiation
https://www.readbyqxmd.com/read/30322923/ubiquitin-ligase-cop1-coordinates-transcriptional-programs-that-control-cell-type-specification-in-the-developing-mouse-brain
#3
Kim Newton, Debra L Dugger, Arundhati Sengupta-Ghosh, Ronald E Ferrando, Felix Chu, Janet Tao, Wendy Lam, Susan Haller, Sara Chan, Susan Sa, Debra Dunlap, Jeffrey Eastham-Anderson, Hai Ngu, Jeffrey Hung, Dorothy M French, Joshua D Webster, Brad Bolon, Jinfeng Liu, Rohit Reja, Sarah Kummerfeld, Ying-Jiun Chen, Zora Modrusan, Joseph W Lewcock, Vishva M Dixit
The E3 ubiquitin ligase CRL4COP1/DET1 is active in the absence of ERK signaling, modifying the transcription factors ETV1, ETV4, ETV5, and c-JUN with polyubiquitin that targets them for proteasomal degradation. Here we show that this posttranslational regulatory mechanism is active in neurons, with ETV5 and c-JUN accumulating within minutes of ERK activation. Mice with constitutive photomorphogenesis 1 ( Cop1 ) deleted in neural stem cells showed abnormally elevated expression of ETV1, ETV4, ETV5, and c-JUN in the developing brain and spinal cord...
October 15, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/30307112/generation-of-mlc-2v-tdtomato-knock-in-reporter-mouse-line
#4
Zhentao Zhang, Young-Jae Nam
MLC-2v is a myosin light chain regulatory protein which is specifically expressed in ventricular cardiomyocytes and slow twitch skeletal muscle cells. MLC-2v plays critical roles in ventricular maturation during heart development. Mice lacking MLC-2v are embryonic lethal due to heart failure associated with abnormal myofibrillar organization of ventricular cardiomyocytes. To study the development of ventricular cardiac muscle and slow twitch skeletal muscle, we generated a new MLC-2v reporter mouse line by knocking-in a tdTomato reporter cassette into 3' UTR of the MLC-2v gene without disrupting the endogenous gene...
October 11, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30305013/thirty-biologically-interpretable-clusters-of-transcription-factors-distinguish-cancer-type
#5
Zachary B Abrams, Mark Zucker, Min Wang, Amir Asiaee Taheri, Lynne V Abruzzo, Kevin R Coombes
BACKGROUND: Transcription factors are essential regulators of gene expression and play critical roles in development, differentiation, and in many cancers. To carry out their regulatory programs, they must cooperate in networks and bind simultaneously to sites in promoter or enhancer regions of genes. We hypothesize that the mRNA co-expression patterns of transcription factors can be used both to learn how they cooperate in networks and to distinguish between cancer types. RESULTS: We recently developed a new algorithm, Thresher, that combines principal component analysis, outlier filtering, and von Mises-Fisher mixture models to cluster genes (in this case, transcription factors) based on expression, determining the optimal number of clusters in the process...
October 11, 2018: BMC Genomics
https://www.readbyqxmd.com/read/30304405/embryonic-myosin-is-a-regeneration-marker-to-monitor-utrophin-based-therapies-for-dmd
#6
Simon Guiraud, Benjamin Edwards, Sarah E Squire, Lee Moir, Adam Berg, Arran Babbs, Nesrine Ramadan, Matthew J Wood, Kay E Davies
Duchenne muscular dystrophy (DMD) is a lethal, X-linked muscle-wasting disease caused by lack of the cytoskeletal protein dystrophin. Constitutive utrophin expression, a structural and functional paralogue of dystrophin, can successfully prevent the dystrophic pathology in the dystrophin-deficient mdx mouse model. In dystrophic muscles, utrophin is increased as part of the repair process and localised at the sarcolemma of regenerating myofibers. The presence of developmental myosin such as embryonic myosin (MyHC-emb) and neonatal (MyHC-neo) represents a useful marker of muscle regeneration and a meaningful indicator of muscle damage which correlates with the clinical severity of milder Becker Muscular dystrophy (BMD) and DMD patients...
October 9, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/30302025/aimp3-deletion-induces-acute-radiation-syndrome-like-phenotype-in-mice
#7
Doyeun Kim, Sunmi Kim, Youngsun Oh, Songhwa Park, Yoon Jeon, Hongtae Kim, Ho Lee, Sunghoon Kim
Genomes are mostly protected from constant DNA-damaging threats, either internal or external, which ultimately sustain the organism. Herein, we report that AIMP3, a previously demonstrated tumour suppressor, plays an essential role in maintaining genome integrity in adult mice. Upon induction of the temporal systemic deletion of AIMP3 by tamoxifen in adult mice, the animals developed an acute radiation syndrome-like phenotype, typified by scleroderma, hypotrophy of haematopoietic cells and organs, and intestinal failure...
October 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/30297694/tip55-a-splice-isoform-of-the-kat5-acetyltransferase-is-essential-for-developmental-gene-regulation-and-organogenesis
#8
Diwash Acharya, Bernadette Nera, Zachary J Milstone, Lauren Bourke, Yeonsoo Yoon, Jaime A Rivera-Pérez, Chinmay M Trivedi, Thomas G Fazzio
Regulation of chromatin structure is critical for cell type-specific gene expression. Many chromatin regulatory complexes exist in several different forms, due to alternative splicing and differential incorporation of accessory subunits. However, in vivo studies often utilize mutations that eliminate multiple forms of complexes, preventing assessment of the specific roles of each. Here we examined the developmental roles of the TIP55 isoform of the KAT5 histone acetyltransferase. In contrast to the pre-implantation lethal phenotype of mice lacking all four Kat5 transcripts, mice specifically deficient for Tip55 die around embryonic day 11...
October 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/30295714/yap-is-required-for-scar-formation-but-not-myocyte-proliferation-during-heart-regeneration-in-zebrafish
#9
Michael A Flinn, Brooke E Jeffery, Caitlin C O'Meara, Brian A Link
Aims: The Hippo signaling pathway regulates multiple cellular processes during organ development and maintenance by modulating activity of the transcriptional cofactor Yap. Core components of this pathway are required for neonatal mouse heart regeneration, however, investigations to date have typically focused on expression and activity in cardiomyocytes. Due to the regenerative capacity of zebrafish and the fact that global loss of Yap is not fully embryonic lethal in zebrafish, we leveraged a yap null mutant to investigate the impact of constitutive Yap deletion during zebrafish heart regeneration...
October 5, 2018: Cardiovascular Research
https://www.readbyqxmd.com/read/30291503/development-and-comparison-of-two-h5n8-influenza-a-vaccine-candidate-strains
#10
Mi-Seon Lee, Eun Young Jang, Junhyung Cho, Kisoon Kim, Chan Hee Lee, Hwajung Yi
Avian influenza viruses circulating in birds have caused outbreaks of infection in poultry and humans, thereby threatening public health. Recently, a highly pathogenic avian influenza (HPAI) virus (H5N8) of clade 2.3.4.4 emerged in Korea and other countries and caused multiple outbreaks in domestic and wild birds, with concerns for human infection. To combat HPAI viral infections, novel vaccines are likely to be the most effective approach. Therefore, in this study, we generated H5N8 vaccine candidate viruses based on a Korean isolate (A/broiler duck/Korea/Buan2/2014)...
October 5, 2018: Archives of Virology
https://www.readbyqxmd.com/read/30290874/toxicity-assessment-and-histopathological-analysis-of-nano-zno-against-marine-fish-mugilogobius-chulae-embryos
#11
Jianjun Li, Zhanming Chen, Ren Huang, Zongyu Miao, Lei Cai, Qingping Du
The toxicity of nano-materials has received increasing attention in recent years. Nevertheless, relatively few studies have focused on their oceanic distributions and toxicities. In this study, we assessed nano-ZnO toxicity in marine organisms using the yellowstriped goby (Mugilogobius chulae). The relative differences in nano-ZnO dissolution and dispersal in seawater and fresh water were also investigated. The effects of nano-ZnO on embryonic development, deformity, hatching, mortality, and histopathology were analyzed...
November 2018: Journal of Environmental Sciences (China)
https://www.readbyqxmd.com/read/30282802/otub1-non-catalytically-stabilizes-the-e2-ubiquitin-conjugating-enzyme-ube2e1-by-preventing-its-autoubiquitination
#12
Nagesh Pasupala, Marie E Morrow, Lauren T Que, Barbara A Malynn, Averil Ma, Cynthia Wolberger
OTUB1 is a deubiquitinating enzyme that cleaves Lys48-linked polyubiquitin chains and also regulates ubiquitin signaling through a unique, non-catalytic mechanism. OTUB1 binds to a subset of E2 ubiquitin conjugating enzymes and inhibits their activity by trapping the E2~ubiquitin thioester and preventing ubiquitin transfer. The same set of E2s stimulate the deubiquitinating activity of OTUB1 when the E2 is not charged with ubiquitin. Previous studies have shown that, in cells, OTUB1 binds to E2 conjugating enzymes of the UBE2D (UBCH5) and UBE2E families, as well as to UBE2N (UBC13)...
October 3, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/30273664/dual-role-of-laminin%C3%A2-511-in-regulating-melanocyte-migration-and-differentiation
#13
Yasemin Üstün, Marion Reibetanz, Bent Brachvogel, Roswitha Nischt, Beate Eckes, Paola Zigrino, Thomas Krieg
Laminins are the major basement membrane (BM) components and are heterotrimers composed of an α, a β and a γ chain. In skin, laminins are present in basement membranes surrounding vascular structures, nerves, adipose tissue and in the specialized junctional BM between the epidermis and dermis. The main laminin isoforms in the dermo-epidermal BM are laminin‑332, laminin‑511 and laminin‑211, the latter being restricted to hair follicles (HFs). The laminin γ1 chain is the most abundant γ chain; its global ablation in mice leads to early embryonic lethality at E5...
September 28, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/30267745/nrf1-is-paved-as-a-new-strategic-avenue-to-prevent-and-treat-cancer-neurodegenerative-and-other-diseases
#14
REVIEW
Jianxin Yuan, Shuwei Zhang, Yiguo Zhang
Transcription factor Nrf1 acts as a unique vital player in maintaining cellular homeostasis and organ integrity during normal development and growth throughout the life process. Loss-of-function of Nrf1 results in severe oxidative stress, genomic instability, embryonic lethality, developmental disorders, and adult diseases such as non-alcoholic steatohepatitis, hepatocellular carcinoma, diabetes and neurogenerative diseases. Thereby, Nrf1 is critically implicated in a variety of important physio-pathological processes by governing robust target genes in order to reinforce antioxidant, detoxification and cytoprotective responses to cellular stress...
September 26, 2018: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/30267374/rna-binding-protein-24-deletion-disrupts-global-alternative-splicing-and-causes-dilated-cardiomyopathy
#15
Jing Liu, Xu Kong, Mengkai Zhang, Xiao Yang, Xiuqin Xu
RNA splicing contributes to a broad spectrum of post-transcriptional gene regulation during normal development, as well as pathological manifestation of heart diseases. However, the functional role and regulation of splicing in heart failure remain poorly understood. RNA binding protein (RBP), a major component of the splicing machinery, is a critical factor in this process. RNA binding motif protein 24 (RBM24) is a tissue-specific RBP which is highly expressed in human and mouse heart. Previous studies demonstrated the functional role of RBM24 in the embryonic heart development...
September 28, 2018: Protein & Cell
https://www.readbyqxmd.com/read/30266924/on-chip-spatiotemporal-electrophysiological-analysis-of-human-stem-cell-derived-cardiomyocytes-enables-quantitative-assessment-of-proarrhythmia-in-drug-development
#16
Yumiko Asahi, Tomoyo Hamada, Akihiro Hattori, Kenji Matsuura, Masao Odaka, Fumimasa Nomura, Tomoyuki Kaneko, Yasuyuki Abe, Kiyoshi Takasuna, Atsushi Sanbuissho, Kenji Yasuda
We examined a simultaneous combined spatiotemporal field potential duration (FPD) and cell-to-cell conduction time (CT) in lined-up shaped human embryonic stem cell-derived cardiomyocytes (hESC-CMs) using an on-chip multielectrode array (MEA) system to evaluate two origins of lethal arrhythmia, repolarization and depolarization. The repolarization index, FPD, was prolonged by E-4031 and astemizole, and shortened by verapamil, flecainide and terfenadine at 10 times higher than therapeutic plasma concentrations of each drug, but it did not change after lidocaine treatment up to 100 μM...
September 28, 2018: Scientific Reports
https://www.readbyqxmd.com/read/30265938/developmental-toxicity-of-the-fungicide-ziram-in-zebrafish-danio-rerio
#17
Fangjie Cao, Christopher L Souders, Pengfei Li, Ondrej Adamovsky, Sen Pang, Lihong Qiu, Christopher J Martyniuk
Ziram is a broad spectrum pesticide that belongs to the class of dimethyl-dithiocarbamate (DTC) fungicides. The objectives of this study were to assess the effects of ziram in developing zebrafish. Ziram was highly toxic to zebrafish embryos, with a 96-h LC50 value of 1082.54 nM (∼0.33 mg/L). Zebrafish embryos at 6 h post-fertilization (hpf) were exposed to solvent control (0.1% DMSO), or one dose of 1, 10, 100, and 1000 nM ziram for 96 h. Ziram induced lethality in a dose-dependent manner, decreased hatching rate and heartbeat, and caused wavy deformities at 72 and 96 hpf at 100 and 1000 nM...
September 19, 2018: Chemosphere
https://www.readbyqxmd.com/read/30261639/-drosophila-huwe1-ubiquitin-ligase-regulates-endoreplication-and-antagonizes-jnk-signaling-during-salivary-gland-development
#18
Yifat Yanku, Eliya Bitman-Lotan, Yaniv Zohar, Estee Kurant, Norman Zilke, Martin Eilers, Amir Orian
The HECT-type ubiquitin ligase HECT, UBA and WWE Domain Containing 1, (HUWE1) regulates key cancer-related pathways, including the Myc oncogene. It affects cell proliferation, stress and immune signaling, mitochondria homeostasis, and cell death. HUWE1 is evolutionarily conserved from Caenorhabditis elegance to Drosophila melanogaster and Humans. Here, we report that the Drosophila ortholog, d HUWE1 (CG8184), is an essential gene whose loss results in embryonic lethality and whose tissue-specific disruption establishes its regulatory role in larval salivary gland development...
September 26, 2018: Cells
https://www.readbyqxmd.com/read/30256721/essential-requirement-of-mammalian-pumilio-family-in-embryonic-development
#19
Kaibo Lin, Shikun Zhang, Qinghua Shi, Mengyi Zhu, Liuze Gao, Wenjuan Xia, Baobao Geng, Zimeng Zheng, Eugene Yujun Xu
Mouse PUMILIO1 (PUM1) and PUMILIO2 (PUM2) belong to the PUF (Pumilio/FBF) family, a highly conserved RNA binding protein family whose homologs play critical roles in embryonic development and germ line stem cell maintenance in invertebrates. However, their roles in mammalian embryonic development and stem cell maintenance remained largely uncharacterized. Here, we report an essential requirement of the Pum gene family in early embryonic development. A loss of both Pum1 and Pum2 genes led to gastrulation failure, resulting in embryo lethality at E8...
September 26, 2018: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/30256431/a-novel-psma-gcpii-deficient-mouse-model-shows-enlarged-seminal-vesicles-upon-aging
#20
Barbora Vorlová, František Sedlák, Petr Kašpárek, Karolína Šrámková, Marek Malý, Josef Zámečník, Pavel Šácha, Jan Konvalinka
BACKGROUND: Prostate-specific membrane antigen (PSMA), also known as glutamate carboxypeptidase II (GCPII), is an important diagnostic and therapeutic target in prostate cancer. PSMA/GCPII is also expressed in many healthy tissues, but its function has only been established in the brain and small intestine. Several research groups have attempted to produce PSMA/GCPII-deficient mice to study the physiological role of PSMA/GCPII in detail. The outcomes of these studies differ dramatically, ranging from embryonic lethality to production of viable PSMA/GCPII-deficient mice without any obvious phenotype...
September 5, 2018: Prostate
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