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Identification of a Novel CHN1 P.(Phe213val) Variant in a Large Han Chinese Family with Congenital Duane Retraction Syndrome
www.nature.com/scientificreports OPEN Identifcation of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome Tai‑Cheng Zhou1,3, Wen‑Hua Duan1,3, Xiao‑Lin Fu2,3, Qin Zhu1, Li‑Yun Guo1, Yuan Zhou1, Zhi‑Juan Hua1, Xue‑Jiao Li1, Dong‑Mei Yang1, Jie‑Ying Zhang1, Jie Yin1, Xiao‑Fan Zhang1, Guang‑Long Zhou1 & Min Hu1* Duane retraction syndrome (DRS) is a neuromuscular dysfunction of the eyes. Although many causative genes of DRS have been identifed in Europe and the United States, few reports have been published in regard to Chinese DRS. The aim of the present study was to explore the genetic defect of DRS in a Chinese family. Exome sequencing was used to identify the disease‑causing gene for the two afected family members. Ophthalmic and physical examinations, as well as genetic screenings for variants in chimerin 1 (CHN1), were performed for all family members. Functional analyses of a CHN1 variant in 293T cells included a Rac‑GTP activation assay, α2‑chimaerin translocation assay, and co‑immunoprecipitation assay. Genetic analysis revealed a NM_001822.7: c.637T > G variant in the CHN1 gene, which resulted in the substitution of a highly conserved C1 domain with valine at codon 213 (NP_001813.1: p.(Phe213Val)) (ClinVar Accession Number: SCV001335305). In-silico analysis revealed that the p.(Phe213Val) substitution afected the protein stability and connections among the amino acids of CHN1 in terms of its tertiary protein structure. Functional studies indicated that the p.(Phe213Val) substitution reduced Rac‑GTP activity and enhanced membrane translocation in response to phorbol‑myristoyl acetate (PMA). -
KLF2 Induced
UvA-DARE (Digital Academic Repository) The transcription factor KLF2 in vascular biology Boon, R.A. Publication date 2008 Link to publication Citation for published version (APA): Boon, R. A. (2008). The transcription factor KLF2 in vascular biology. General rights It is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s) and/or copyright holder(s), other than for strictly personal, individual use, unless the work is under an open content license (like Creative Commons). Disclaimer/Complaints regulations If you believe that digital publication of certain material infringes any of your rights or (privacy) interests, please let the Library know, stating your reasons. In case of a legitimate complaint, the Library will make the material inaccessible and/or remove it from the website. Please Ask the Library: https://uba.uva.nl/en/contact, or a letter to: Library of the University of Amsterdam, Secretariat, Singel 425, 1012 WP Amsterdam, The Netherlands. You will be contacted as soon as possible. UvA-DARE is a service provided by the library of the University of Amsterdam (https://dare.uva.nl) Download date:23 Sep 2021 Supplementary data: Genes induced by KLF2 Dekker et al. LocusLink Accession Gene Sequence Description Fold p-value ID number symbol change (FDR) 6654 AK022099 SOS1 cDNA FLJ12037 fis, clone HEMBB1001921. 100.00 5.9E-09 56999 AF086069 ADAMTS9 full length insert cDNA clone YZ35C05. 100.00 1.2E-09 6672 AF085934 SP100 full length insert cDNA clone YR57D07. 100.00 6.7E-13 9031 AF132602 BAZ1B Williams Syndrome critical region WS25 mRNA, partial sequence. -
Table 2. Significant
Table 2. Significant (Q < 0.05 and |d | > 0.5) transcripts from the meta-analysis Gene Chr Mb Gene Name Affy ProbeSet cDNA_IDs d HAP/LAP d HAP/LAP d d IS Average d Ztest P values Q-value Symbol ID (study #5) 1 2 STS B2m 2 122 beta-2 microglobulin 1452428_a_at AI848245 1.75334941 4 3.2 4 3.2316485 1.07398E-09 5.69E-08 Man2b1 8 84.4 mannosidase 2, alpha B1 1416340_a_at H4049B01 3.75722111 3.87309653 2.1 1.6 2.84852656 5.32443E-07 1.58E-05 1110032A03Rik 9 50.9 RIKEN cDNA 1110032A03 gene 1417211_a_at H4035E05 4 1.66015788 4 1.7 2.82772795 2.94266E-05 0.000527 NA 9 48.5 --- 1456111_at 3.43701477 1.85785922 4 2 2.8237185 9.97969E-08 3.48E-06 Scn4b 9 45.3 Sodium channel, type IV, beta 1434008_at AI844796 3.79536664 1.63774235 3.3 2.3 2.75319499 1.48057E-08 6.21E-07 polypeptide Gadd45gip1 8 84.1 RIKEN cDNA 2310040G17 gene 1417619_at 4 3.38875643 1.4 2 2.69163229 8.84279E-06 0.0001904 BC056474 15 12.1 Mus musculus cDNA clone 1424117_at H3030A06 3.95752801 2.42838452 1.9 2.2 2.62132809 1.3344E-08 5.66E-07 MGC:67360 IMAGE:6823629, complete cds NA 4 153 guanine nucleotide binding protein, 1454696_at -3.46081884 -4 -1.3 -1.6 -2.6026947 8.58458E-05 0.0012617 beta 1 Gnb1 4 153 guanine nucleotide binding protein, 1417432_a_at H3094D02 -3.13334396 -4 -1.6 -1.7 -2.5946297 1.04542E-05 0.0002202 beta 1 Gadd45gip1 8 84.1 RAD23a homolog (S. -
Histatin-1 Attenuates LPS-Induced Inflammatory Signaling in RAW264
International Journal of Molecular Sciences Article Histatin-1 Attenuates LPS-Induced Inflammatory Signaling in RAW264.7 Macrophages Sang Min Lee 1 , Kyung-No Son 1, Dhara Shah 1, Marwan Ali 1, Arun Balasubramaniam 1, Deepak Shukla 1,2 and Vinay Kumar Aakalu 1,3,* 1 Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL 60612, USA; [email protected] (S.M.L.); [email protected] (K.-N.S.); [email protected] (D.S.); [email protected] (M.A.); [email protected] (A.B.); [email protected] (D.S.) 2 Department of Microbiology and Immunology, University of Illinois at Chicago, Chicago, IL 60612, USA 3 Research and Surgical Services, Jesse Brown VA Medical Center, Chicago, IL 60612, USA * Correspondence: [email protected] Abstract: Macrophages play a critical role in the inflammatory response to environmental triggers, such as lipopolysaccharide (LPS). Inflammatory signaling through macrophages and the innate immune system are increasingly recognized as important contributors to multiple acute and chronic disease processes. Nitric oxide (NO) is a free radical that plays an important role in immune and inflammatory responses as an important intercellular messenger. In addition, NO has an important role in inflammatory responses in mucosal environments such as the ocular surface. Histatin peptides are well-established antimicrobial and wound healing agents. These peptides are important in multiple biological systems, playing roles in responses to the environment and immunomodulation. Citation: Lee, S.M.; Son, K.-N.; Shah, Given the importance of macrophages in responses to environmental triggers and pathogens, we D.; Ali, M.; Balasubramaniam, A.; Shukla, D.; Aakalu, V.K. -
A Computational Approach for Defining a Signature of Β-Cell Golgi Stress in Diabetes Mellitus
Page 1 of 781 Diabetes A Computational Approach for Defining a Signature of β-Cell Golgi Stress in Diabetes Mellitus Robert N. Bone1,6,7, Olufunmilola Oyebamiji2, Sayali Talware2, Sharmila Selvaraj2, Preethi Krishnan3,6, Farooq Syed1,6,7, Huanmei Wu2, Carmella Evans-Molina 1,3,4,5,6,7,8* Departments of 1Pediatrics, 3Medicine, 4Anatomy, Cell Biology & Physiology, 5Biochemistry & Molecular Biology, the 6Center for Diabetes & Metabolic Diseases, and the 7Herman B. Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202; 2Department of BioHealth Informatics, Indiana University-Purdue University Indianapolis, Indianapolis, IN, 46202; 8Roudebush VA Medical Center, Indianapolis, IN 46202. *Corresponding Author(s): Carmella Evans-Molina, MD, PhD ([email protected]) Indiana University School of Medicine, 635 Barnhill Drive, MS 2031A, Indianapolis, IN 46202, Telephone: (317) 274-4145, Fax (317) 274-4107 Running Title: Golgi Stress Response in Diabetes Word Count: 4358 Number of Figures: 6 Keywords: Golgi apparatus stress, Islets, β cell, Type 1 diabetes, Type 2 diabetes 1 Diabetes Publish Ahead of Print, published online August 20, 2020 Diabetes Page 2 of 781 ABSTRACT The Golgi apparatus (GA) is an important site of insulin processing and granule maturation, but whether GA organelle dysfunction and GA stress are present in the diabetic β-cell has not been tested. We utilized an informatics-based approach to develop a transcriptional signature of β-cell GA stress using existing RNA sequencing and microarray datasets generated using human islets from donors with diabetes and islets where type 1(T1D) and type 2 diabetes (T2D) had been modeled ex vivo. To narrow our results to GA-specific genes, we applied a filter set of 1,030 genes accepted as GA associated. -
Steroid-Dependent Regulation of the Oviduct: a Cross-Species Transcriptomal Analysis
University of Kentucky UKnowledge Theses and Dissertations--Animal and Food Sciences Animal and Food Sciences 2015 Steroid-dependent regulation of the oviduct: A cross-species transcriptomal analysis Katheryn L. Cerny University of Kentucky, [email protected] Right click to open a feedback form in a new tab to let us know how this document benefits ou.y Recommended Citation Cerny, Katheryn L., "Steroid-dependent regulation of the oviduct: A cross-species transcriptomal analysis" (2015). Theses and Dissertations--Animal and Food Sciences. 49. https://uknowledge.uky.edu/animalsci_etds/49 This Doctoral Dissertation is brought to you for free and open access by the Animal and Food Sciences at UKnowledge. It has been accepted for inclusion in Theses and Dissertations--Animal and Food Sciences by an authorized administrator of UKnowledge. For more information, please contact [email protected]. STUDENT AGREEMENT: I represent that my thesis or dissertation and abstract are my original work. Proper attribution has been given to all outside sources. I understand that I am solely responsible for obtaining any needed copyright permissions. I have obtained needed written permission statement(s) from the owner(s) of each third-party copyrighted matter to be included in my work, allowing electronic distribution (if such use is not permitted by the fair use doctrine) which will be submitted to UKnowledge as Additional File. I hereby grant to The University of Kentucky and its agents the irrevocable, non-exclusive, and royalty-free license to archive and make accessible my work in whole or in part in all forms of media, now or hereafter known. -
Mannosidases Are the Putative Catabolic Enzymes Which
THE CHARACTERIZATION OF A NOVEL HUMAN CORE-SPECIFIC LYSOSOMAL α1-6MANNOSIDASE INVOLVED IN N-GLYCAN CATABOLISM by CHAEHO PARK (Under the Direction of Kelley W. Moremen) ABSTRACT In humans and rodents lysosomal catabolism of Man3GlcNAc2 core N-glycan structures results from the concerted actions of exoglycosidases including the broad specificity lysosomal α- mannosidase (LysMan), a core-specific α1-6mannosidase, and β-mannosidase, as well as the core chitobiose cleavage by an di-N-acetylchitobiase. In ungulates and carnivora, both the chitobiase and the α1-6mannosidase enzyme activities are absent suggesting a co-regulation of the two enzymes. We describe here the cloning, expression, purification and characterization of the human core-specific α1-6mannosidase with similarity to members of the glycosylhydrolase family 38. The recombinant enzyme had a pH optimum of 4.0, was potently inhibited by swainsonine and 1,4-dideoxy1,4-imino-D-mannitol, and was stimulated by Co+2. NMR-based time course substrate specificity studies comparing the α1-6mannosidase with human LysMan revealed that the former enzyme selectively cleaved the α1-6mannose residue from Man3GlcNAc, but not Man3GlcNAc2 or other larger high mannose structures, indicating the requirement for chitobiase action prior to α1-6mannosidase cleavage. In contrast, LysMan cleaved all of the α-linked mannose residues from Man9-5GlcNAc2, Man3GlcNAc2, or Man3GlcNAc structures except the core α1-6mannose residue. Transcripts encoding the α1-6mannosidase were ubiquitously expressed in human tissues and expressed sequence tag searches in various mammalian species demonstrated a similar distribution in species-specific expression as the chitobiase. No expressed sequence tags were identified for bovine α1-6mannosidase despite the identification of two homologs in the bovine genome. -
A Novel Secretion and Online-Cleavage Strategy for Production of Cecropin a in Escherichia Coli
www.nature.com/scientificreports OPEN A novel secretion and online- cleavage strategy for production of cecropin A in Escherichia coli Received: 14 March 2017 Meng Wang 1, Minhua Huang1, Junjie Zhang1, Yi Ma1, Shan Li1 & Jufang Wang1,2 Accepted: 23 June 2017 Antimicrobial peptides, promising antibiotic candidates, are attracting increasing research attention. Published: xx xx xxxx Current methods for production of antimicrobial peptides are chemical synthesis, intracellular fusion expression, or direct separation and purifcation from natural sources. However, all these methods are costly, operation-complicated and low efciency. Here, we report a new strategy for extracellular secretion and online-cleavage of antimicrobial peptides on the surface of Escherichia coli, which is cost-efective, simple and does not require complex procedures like cell disruption and protein purifcation. Analysis by transmission electron microscopy and semi-denaturing detergent agarose gel electrophoresis indicated that fusion proteins contain cecropin A peptides can successfully be secreted and form extracellular amyloid aggregates at the surface of Escherichia coli on the basis of E. coli curli secretion system and amyloid characteristics of sup35NM. These amyloid aggregates can be easily collected by simple centrifugation and high-purity cecropin A peptide with the same antimicrobial activity as commercial peptide by chemical synthesis was released by efcient self-cleavage of Mxe GyrA intein. Here, we established a novel expression strategy for the production of antimicrobial peptides, which dramatically reduces the cost and simplifes purifcation procedures and gives new insights into producing antimicrobial and other commercially-viable peptides. Because of their potent, fast, long-lasting activity against a broad range of microorganisms and lack of bacterial resistance, antimicrobial peptides (AMPs) have received increasing attention1. -
Supplemental Table 3 - Male Genes Differentially Expressed > 1.5-Fold Among Strains in E11.5 XY Gonads
Supplemental Table 3 - Male genes differentially expressed > 1.5-fold among strains in E11.5 XY gonads. Male genes differentially expressed between C57BL/6J and 129S1/SvImJ. Note: Positive fold values reflect male genes that are up regulated in C57BL/6J relative to 129S1/SvImJ. Fold Diff Gene symbol Genbank acc Description 10.77 Gcnt1 NM_173442 Mus musculus glucosaminyl (N-acetyl) transferase 1, core 2 (Gcnt1), mRNA [NM_173442] 5.50 Afp NM_007423 Mus musculus alpha fetoprotein (Afp), mRNA [NM_007423] 4.95 Hnf4a NM_008261 Mus musculus hepatic nuclear factor 4, alpha (Hnf4a), mRNA [NM_008261] 4.71 Ppp1r14c AK082372 Mus musculus 0 day neonate cerebellum cDNA, RIKEN full-length enriched library, clone:C230042N14 product:hypothetical protein, full insert sequence. [AK082372] 4.41 Gorasp2 AK020521 Mus musculus 12 days embryo embryonic body between diaphragm region and neck cDNA, RIKEN full-length enriched library, clone:9430094F20 product:inferred: golgi reassembly stacking protein 2, full insert sequence. [AK020521] 3.69 Tmc7 NM_172476 Mus musculus transmembrane channel-like gene family 7 (Tmc7), mRNA [NM_172476] 2.97 Mt2 NM_008630 Mus musculus metallothionein 2 (Mt2), mRNA [NM_008630] 2.62 Gstm6 NM_008184 Mus musculus glutathione S-transferase, mu 6 (Gstm6), mRNA [NM_008184] 2.43 Adhfe1 NM_175236 Mus musculus alcohol dehydrogenase, iron containing, 1 (Adhfe1), mRNA [NM_175236] 2.38 Txndc2 NM_153519 Mus musculus thioredoxin domain containing 2 (spermatozoa) (Txndc2), mRNA [NM_153519] 2.30 C030038J10Rik AK173336 Mus musculus mRNA for mKIAA2027 -
Supplemental Information IRF4 Transcription Factor-Dependent Cd11b+ Dendritic Cells in Human and Mouse Control Mucosal IL-17 C
Immunity, Volume 38 Supplemental Information IRF4 Transcription Factor-Dependent CD11b+ Dendritic Cells in Human and Mouse Control Mucosal IL-17 Cytokine Responses Andreas Schlitzer, Naomi McGovern, Pearline Teo, Teresa Zelante, Koji Atarashi, Donovan Low, Adrian W.S. Ho, Peter See, Amanda Shin, Pavandip Singh Wasan, Guillaume Hoeffel, Benoit Malleret, Alexander Heiseke, Samantha Chew, Laura Jardine, Harriet A. Purvis, Catharien M.U. Hilkens, John Tam, Michael Poidinger, E. Richard Stanley, Anne B. K rug, Laurent Renia, Baalasubramanian Sivasankar, Lai Guan Ng, Matthew Collin, Paola Ricciardi-Castagnoli, Kenya Honda, Muzlifah Haniffa, and Florent Ginhoux Supplemental Inventory 1. Supplemental Figures and Tables Figure S1, Related to Figure 1 Figure S2, Related to Figure 2 and 3 Figure S3, Related to Figure 4 Figure S4, Related to Figure 5 Figure S5, Related to Figure 5 Figure S6, Related to Figure 7 Table S1, Related to Figure 3 Table S2, Related to Figure 6 Table S3, Related to Figure 6 2. Supplemental Experimental Procedures 3. Supplemental References Supplementary figure 1 Sorting strategy for mouse lung and small intestinal DC A Sorting strategy, Lung Singlets Dapi-CD45+ 250K 250K 250K 105 200K 200K 200K 104 A I - 150K 150K 150K C P C C 3 10 S A S S 100K 100K S 100K D S S 102 50K 50K 50K 0 0 0 0 0 50K 100K 150K 200K 250K 0 50K 100K 150K 200K 250K 0 103 104 105 0 103 104 105 FSC FSC-W CD45 GR1 Auto Fluor.- MHCII+ GR1- SSClow CD11c+ CD11b+ 250K 105 105 105 200K 4 104 10 104 150K I 3 I 3 4 3 0 10 3 C 2 H 10 10 100K 1 S D C D S C M 2 C 10 50K 0 0 0 0 0 102 103 104 105 0 103 104 105 0 103 104 105 0 103 104 105 Auto fluor. -
A Human Population-Based Organotypic in Vitro Model for Cardiotoxicity Screening1
ALTEX preprint published July 8, 2018 doi:10.14573/altex.1805301 Research Article A human population-based organotypic in vitro model for cardiotoxicity screening1 Fabian A. Grimm1, Alexander Blanchette1, John S. House2, Kyle Ferguson1, Nan-Hung Hsieh1, Chimeddulam Dalaijamts1, Alec A. Wright1, Blake Anson5, Fred A. Wright3,4, Weihsueh A. Chiu1, Ivan Rusyn1 1Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX, USA; 2Bioinformatics Research Center, 3Department of Biological Sciences, and 4Department of Statistics, North Carolina State University, Raleigh, NC, USA; 5Cellular Dynamics International, Madison, WI, USA Abstract Assessing inter-individual variability in responses to xenobiotics remains a substantial challenge, both in drug development with respect to pharmaceuticals and in public health with respect to environmental chemicals. Although approaches exist to characterize pharmacokinetic variability, there are no methods to routinely address pharmacodynamic variability. In this study, we aimed to demonstrate the feasibility of characterizing inter-individual variability in a human in vitro model. Specifically, we hypothesized that genetic variability across a population of iPSC- derived cardiomyocytes translates into reproducible variability in both baseline phenotypes and drug responses. We measured baseline and drug-related effects in iPSC-derived cardiomyocytes from 27 healthy donors on kinetic Ca2+ flux and high-content live cell imaging. Cells were treated in concentration-response with cardiotoxic drugs: isoproterenol (β- adrenergic receptor agonist/positive inotrope), propranolol (β-adrenergic receptor antagonist/negative inotrope), and cisapride (hERG channel inhibitor/QT prolongation). Cells from four of the 27 donors were further evaluated in terms of baseline and treatment-related gene expression. Reproducibility of phenotypic responses was evaluated across batches and time. -
Characterization of Glomerular Extracellular Matrix in Iga Nephropathy by Proteomic Analysis of Laser-Captured Microdissected Gl
Paunas et al. BMC Nephrology (2019) 20:410 https://doi.org/10.1186/s12882-019-1598-1 RESEARCH ARTICLE Open Access Characterization of glomerular extracellular matrix in IgA nephropathy by proteomic analysis of laser-captured microdissected glomeruli Flavia Teodora Ioana Paunas1,2* , Kenneth Finne2, Sabine Leh2,3, Tarig Al-Hadi Osman2, Hans-Peter Marti2,4, Frode Berven5 and Bjørn Egil Vikse1,2 Abstract Background: IgA nephropathy (IgAN) involves mesangial matrix expansion, but the proteomic composition of this matrix is unknown. The present study aimed to characterize changes in extracellular matrix in IgAN. Methods: In the present study we used mass spectrometry-based proteomics in order to quantitatively compare protein abundance between glomeruli of patients with IgAN (n = 25) and controls with normal biopsy findings (n = 15). Results: Using a previously published paper by Lennon et al. and cross-referencing with the Matrisome database we identified 179 extracellular matrix proteins. In the comparison between IgAN and controls, IgAN glomeruli showed significantly higher abundance of extracellular matrix structural proteins (e.g periostin, vitronectin, and extracellular matrix protein 1) and extracellular matrix associated proteins (e.g. azurocidin, myeloperoxidase, neutrophil elastase, matrix metalloproteinase-9 and matrix metalloproteinase 2). Periostin (fold change 3.3) and azurocidin (3.0) had the strongest fold change between IgAN and controls; periostin was also higher in IgAN patients who progressed to ESRD as compared to patients who did not. Conclusion: IgAN is associated with widespread changes of the glomerular extracellular matrix proteome. Proteins important in glomerular sclerosis or inflammation seem to be most strongly increased and periostin might be an important marker of glomerular damage in IgAN.