| The Origins and Future of Sentinel: An Early-Warning System for Pandemic Preemption and Response. | The Origins and Future of Sentinel: An Early-Warning System for Pandemic Preemption and Response.
Botti-Lodovico Y, Nair P, Nosamiefan D, Stremlau M, Schaffner S, Agignoae SV, Aiyepada JO, Ajogbasile FV, Akpede GO, Alhasan F, Andersen KG, Asogun DA, Ayodeji OO, Badiane AS, Barnes K, Bauer MR, Bell-Kareem A, Benard ME, Benevolence EO, Blessing O, Boehm CK, Boisen ML, Bond NG, Branco LM, Butts MJ, Carter A, Colubri A, Deme AB, DeRuff KC, Diédhiou Y, Edamhande AP, Elhamoumi S, Engel EJ, Eromon P, Fallah M, Folarin OA, Fry B, Garry R, Gaye A, Gbakie M, Gevao SM, Gionet G, Gladden-Young A, Goba A, Gomis JF, Happi AN, Houghton M, Ihekwuazu C, Iruolagbe CO, Jackson J, Jalloh S, Johnson J, Kanneh L, Kayode A, Kemball M, Kingsley OC, Koroma V, Kotliar D, Mehta S, Metsky HC, Michael A, Mirhashemi ME, Modjarrad K, Momoh M, Myhrvold CA, Naregose OG, Ndiaye T, Ndiaye M, Ndiaye A, Normandin E, Odia I, Oguzie JU, Okogbenin SA, Okokhere PO, Okolie J, Olawoye IB, Olumade TJ, Oluniyi PE, Omoregie O, Park DJ, Paye MF, Petros B, Philippakis AA, Priscilla A, Ricks A, Rimoin A, Sandi JD, Schieffelin JS, Schreiber M, Seck MC, Siddiqui S, Siddle K, Smither AR, Sy M, Sy N, Tomkins-Tinch CH, Tomori O, Ugwu C, Uwanibe JN, Uyigue EA, Victoria DI, Vinzé A, Vodzak ME, Welch N, Wurie HI, Zoumarou D, Grant DS, Ndiaye D, MacInnis B, Sabeti PC, Happi C., Free PMC Article | 12/4/2021 |
| Clinical significance of LARGE1 in progression of liver cancer and the underlying mechanism. | Clinical significance of LARGE1 in progression of liver cancer and the underlying mechanism.
Wang M, Tao H, Huang P. | 04/3/2021 |
| findings demonstrate that a lack of matriglycan on alpha-dystroglycan is a common feature in rhabdomyosarcoma due to the downregulation of LARGE1, and that ectopic expression of LARGE1 can restore matriglycan modifications and the ability of alpha-dystroglycan to function as an extracellular matrix receptor | Exogenous expression of the glycosyltransferase LARGE1 restores α-dystroglycan matriglycan and laminin binding in rhabdomyosarcoma.
Beltrán D, Anderson ME, Bharathy N, Settelmeyer TP, Svalina MN, Bajwa Z, Shern JF, Gultekin SH, Cuellar MA, Yonekawa T, Keller C, Campbell KP., Free PMC Article | 05/9/2020 |
| Large1 gene is a target for human papillomavirus integrations and chromosome rearrangements in oropharyngeal squamous cell carcinoma. | Common fragile sites (CFS) and extremely large CFS genes are targets for human papillomavirus integrations and chromosome rearrangements in oropharyngeal squamous cell carcinoma.
Gao G, Johnson SH, Vasmatzis G, Pauley CE, Tombers NM, Kasperbauer JL, Smith DI. | 07/22/2017 |
| A glucuronic acid beta1,4-xylose disaccharide synthesized by B4GAT1 acts as an acceptor primer that can be elongated by LARGE with the ligand-binding heteropolysaccharide. | The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation.
Willer T, Inamori K, Venzke D, Harvey C, Morgensen G, Hara Y, Beltrán Valero de Bernabé D, Yu L, Wright KM, Campbell KP., Free PMC Article | 04/16/2016 |
| B4GAT1 is involved in the initiation of the LARGE-dependent repeating disaccharide that is necessary for extracellular matrix protein binding to O-mannosylated alpha-dystroglycan. | B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan.
Praissman JL, Live DH, Wang S, Ramiah A, Chinoy ZS, Boons GJ, Moremen KW, Wells L., Free PMC Article | 04/16/2016 |
| results suggest absent alpha-DG expression & LARGE deregulation closely associated w/ nodal metastasis tongue cancer. Aberrant alpha-DG expression & glycosylation attributed to abnormal epigenetic modification of LARGE; hypermethylation of its promoter. | Correlation of deregulated like-acetylglucosaminyl transferase and aberrant α-dystroglycan expression with human tongue cancer metastasis.
Zhang HZ, Xia XY, Zhu F, Shen H, Song K, Shang ZJ. | 07/12/2014 |
| A homozygous LARGE mutation at Cys443 is identified in patients with dystroglycanopathies, whereas the mutation p.Glu509Lys in this study may confer a milder phenotype. | Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.
Meilleur KG, Zukosky K, Medne L, Fequiere P, Powell-Hamilton N, Winder TL, Alsaman A, El-Hattab AW, Dastgir J, Hu Y, Donkervoort S, Golden JA, Eagle R, Finkel R, Scavina M, Hood IC, Rorke-Adams LB, Bönnemann CG., Free PMC Article | 06/7/2014 |
| This study suggests LARGE as the first known modifier of plasma antithrombin. | Identification of antithrombin-modulating genes. Role of LARGE, a gene encoding a bifunctional glycosyltransferase, in the secretion of proteins?
de la Morena-Barrio ME, Buil A, Antón AI, Martínez-Martínez I, Miñano A, Gutiérrez-Gallego R, Navarro-Fernández J, Aguila S, Souto JC, Vicente V, Soria JM, Corral J., Free PMC Article | 01/4/2014 |
| results reveal that the LARGE-glycan of dystroglycan serves as a tunable extracellular matrix protein scaffold, the extension of which is required for normal skeletal muscle function | LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy.
Goddeeris MM, Wu B, Venzke D, Yoshida-Moriguchi T, Saito F, Matsumura K, Moore SA, Campbell KP., Free PMC Article | 12/14/2013 |
| LARGE could act as a bifunctional glycosyltransferase, with xylosyltransferase and glucuronyltransferase activities, which produced repeating units of [-3-xylose-alpha1,3-glucuronic acid-beta1-]; allowed alpha-DG to bind laminin-G domain-containing ECM ligands | Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE.
Inamori K, Yoshida-Moriguchi T, Hara Y, Anderson ME, Yu L, Campbell KP., Free PMC Article | 11/24/2012 |
| This study demonistreated that Intragenic rearrangements in LARGE gene in muscle-eye-brain disease. | Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies.
Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Eude-Caye A, Charluteau E, Besson C, Quentin S, Devisme L, Le Bizec C, Landrieu P, Goldenberg A, Maincent K, Loget P, Boute O, Gilbert-Dussardier B, Encha-Razavi F, Gonzales M, Grandchamp B, Seta N. | 02/18/2012 |
| the ligand-binding activity of alpha-dystroglycan is conferred primarily by LARGE modification at Thr-317 and -319, within the highly conserved first 18 amino acids of the mucin-like domain | Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection.
Hara Y, Kanagawa M, Kunz S, Yoshida-Moriguchi T, Satz JS, Kobayashi YM, Zhu Z, Burden SJ, Oldstone MB, Campbell KP., Free PMC Article | 12/31/2011 |
| LARGE has a role in inducing alpha-dystroglycan hyperglycosylation in skeletal and cardiac muscle | Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle.
Brockington M, Torelli S, Sharp PS, Liu K, Cirak S, Brown SC, Wells DJ, Muntoni F., Free PMC Article | 07/9/2011 |
| This report extends our knowledge of the clinical phenotype associated with LARGE, and is the second family in which disease results from a large-scale gene rearrangement. | Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.
Clarke NF, Maugenre S, Vandebrouck A, Urtizberea JA, Willer T, Peat RA, Gray F, Bouchet C, Manya H, Vuillaumier-Barrot S, Endo T, Chouery E, Campbell KP, Mégarbané A, Guicheney P., Free PMC Article | 07/9/2011 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Human variation in alcohol response is influenced by variation in neuronal signaling genes.
Joslyn G, Ravindranathan A, Brush G, Schuckit M, White RL. | 04/7/2010 |
| Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
Uhl GR, Liu QR, Drgon T, Johnson C, Walther D, Rose JE, David SP, Niaura R, Lerman C., Free PMC Article | 12/2/2009 |
| LARGE repression is responsible for the defects in dystroglycan-mediated cell adhesion that are observed in epithelium-derived cancer cells and point to a defect of dystroglycan glycosylation as a factor in cancer progression | Loss of alpha-dystroglycan laminin binding in epithelium-derived cancers is caused by silencing of LARGE.
de Bernabé DB, Inamori K, Yoshida-Moriguchi T, Weydert CJ, Harper HA, Willer T, Henry MD, Campbell KP., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesInvestigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanché H, Schreiber S, Nebel A. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E. | 04/1/2009 |
| Observational study of genotype prevalence. (HuGE Navigator) | Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F. | 03/13/2008 |
| LARGE2 was found to support the maturation of alpha-dystroglycan more effectively than LARGE. | LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE.
Fujimura K, Sawaki H, Sakai T, Hiruma T, Nakanishi N, Sato T, Ohkura T, Narimatsu H. | 01/21/2010 |