Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.

Autor: Morgan AT; Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia., Scerri TS; Murdoch Children's Research Institute, Parkville 3052, Australia.; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia., Vogel AP; Department of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia.; Centre for Neuroscience of Speech, The University of Melbourne, Parkville 3053, Australia.; Clinical Trials, Redenlab Inc., Melbourne 3000, Australia., Reid CA; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia.; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia., Quach M; Department of Neuroscience, Central Clinical School, Monash University, Melbourne 3004, Australia., Jackson VE; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia., McKenzie C; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia., Burrows EL; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia., Bennett MF; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia.; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia., Turner SJ; Murdoch Children's Research Institute, Parkville 3052, Australia., Reilly S; Murdoch Children's Research Institute, Parkville 3052, Australia.; Menzies Health Institute Queensland, Griffith University, 4215 Southport, Australia., Horton SE; Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia., Block S; Discipline of Speech Pathology, School of Allied Health, La Trobe University, Bundoora 3086, Australia., Kefalianos E; Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia., Frigerio-Domingues C; Laboratory of Communication Disorders, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-2320, USA., Sainz E; Laboratory of Communication Disorders, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-2320, USA., Rigbye KA; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia., Featherby TJ; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia., Richards KL; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia., Kueh A; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia., Herold MJ; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia., Corbett MA; Adelaide Medical School, The University of Adelaide, Adelaide 5000, Australia.; Neurogenetics Research Program, South Australian Health and Medical Research Institute, Adelaide 5000, Australia., Gecz J; Adelaide Medical School, The University of Adelaide, Adelaide 5000, Australia.; Neurogenetics Research Program, South Australian Health and Medical Research Institute, Adelaide 5000, Australia., Helbig I; Department of Neurology, Children's Hospital, Philadelphia, PA 19104, USA., Thompson-Lake DGY; Developmental Neurosciences Department, UCL Great Ormond Street Institute of Child Health, London, UK., Liégeois FJ; Developmental Neurosciences Department, UCL Great Ormond Street Institute of Child Health, London, UK., Morell RJ; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA.; Genomics and Computational Biology Core, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA., Hung A; School of Science, STEM College, RMIT University, Melbourne 3001, Australia., Drayna D; Laboratory of Communication Disorders, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-2320, USA., Scheffer IE; Murdoch Children's Research Institute, Parkville 3052, Australia.; Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia.; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville 3052, Australia., Wright DK; Department of Neuroscience, Central Clinical School, Monash University, Melbourne 3004, Australia., Bahlo M; The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Medical Biology, University of Melbourne, Parkville 3052, Australia.; School of Mathematics and Statistics, University of Melbourne, 3010 Parkville, Australia., Hildebrand MS; Murdoch Children's Research Institute, Parkville 3052, Australia.; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia.

Publikováno v: Brain : a journal of neurology [Brain] 2023 Dec 01; Vol. 146 (12), pp. 5086-5097.

Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients

Autor: Lee, K.Y., Choi, S.Y., Bae, J.W., Kim, S., Chung, K.W., Drayna, D., Kim, U.K., Lee, S.H.

Publikováno v: In International Journal of Pediatric Otorhinolaryngology 2008 72(9):1301-1309

Neuroanatomical anomalies associated with rare AP4E1 mutations in people who stutter.

Autor: Chow HM; Department of Communication Sciences and Disorders, University of Delaware, Newark, DE 19713, USA.; Katzin Diagnostic & Research PET/MR Center, Nemours/Alfred duPont Hospital for Children, Wilmington, DE 19803, USA.; Department of Psychiatry, University of Michigan, Ann Arbor, MI 48109, USA.; Section on Genetics of Communication Disorders, NIDCD/NIH, Bethesda, MD 20892, USA., Li H; Katzin Diagnostic & Research PET/MR Center, Nemours/Alfred duPont Hospital for Children, Wilmington, DE 19803, USA., Liu S; Section on Developmental Neurogenomics, NIMH/NIH, Bethesda, MD 20892, USA., Frigerio-Domingues C; Section on Genetics of Communication Disorders, NIDCD/NIH, Bethesda, MD 20892, USA., Drayna D; Section on Genetics of Communication Disorders, NIDCD/NIH, Bethesda, MD 20892, USA.

Publikováno v: Brain communications [Brain Commun] 2021 Nov 13; Vol. 3 (4), pp. fcab266. Date of Electronic Publication: 2021 Nov 13 (Print Publication: 2021).

Global diversity in the TAS2R38 bitter taste receptor: revisiting a classic evolutionary PROPosal (vol 6, 25506, 2016)

Autor: Risso, Ds, Mezzavilla, M, Pagani, Luca, Robino, A, Morini, G, Tofanelli, S, Carrai, M, Campa, D, Barale, R, Caradonna, F, Gasparini, P, Luiselli, D, Wooding, S, Drayna, D.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3657::c5564378059be64e133e38dc7ee743d8
http://hdl.handle.net/11577/3233087

Novel Deep Sea Isoindole Alkaloid FGFC1 Exhibits Its Fibrinolytic Effects by Inhibiting Thrombin-Activatable Fibrinolysis Inhibitor.

Autor: Zhang, Haixing¹ (AUTHOR) starfishhx@163.com, Diao, Xiaozhen^1,2 (AUTHOR) xzdiao@shou.edu.cn, Jiang, Tingting¹ (AUTHOR) j15037793607@163.com, Wei, Mingjun¹ (AUTHOR) weimj98@163.com, Su, Yue¹ (AUTHOR) suyue0616@163.com, Shen, Jingjing³ (AUTHOR) sshshjj@shimadzu.com.cn, Bao, Chunlin⁴ (AUTHOR) baochunling@6thhosp-east.com, Wu, Wenhui^1,5 (AUTHOR) baochunling@6thhosp-east.com

Publikováno v: Pharmaceuticals (14248247). Oct2024, Vol. 17 Issue 10, p1401. 16p.