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PubMed Publications| Keyword search (4,163 papers available) |  |
"TRAPP" Keyword-tagged Publications:
| Title | Authors | PubMed ID | |
|---|---|---|---|
| 1 | From water to sediment: A meta-analysis of microplastic distribution and the impact of dams in reservoir ecosystems | Gao W; Zhang P; Wang H; Yang X; An C; | 41215774 ENCS |
| 2 | Prioritizing Chemical Features in Non-targeted Analysis through Spatial Trend Analysis: Application to the Identification of Organic Chemicals Subject to Mountain Cold-Trapping | Zhang X; Zhan F; Hao C; Lei YD; Wania F; | 39912640 CHEMBIOCHEM |
| 3 | A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a TRAPPC1-Associated Neurodevelopmental Syndrome | Zykaj E; Abboud C; Asadi P; Warsame S; Almousa H; Milev MP; Greco BM; López-Sánchez M; Bratkovic D; Kachroo AH; Pérez-Jurado LA; Sacher M; | 39273027 BIOLOGY |
| 4 | TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions | Almousa H; Lewis SA; Bakhtiari S; Nordlie SH; Pagnozzi A; Magee H; Efthymiou S; Heim JA; Cornejo P; Zaki MS; Anwar N; Maqbool S; Rahman F; Neilson DE; Vemuri A; Jin SC; Yang XR; Heidari A; van Gassen K; Trimouille A; Thauvin-Robinet C; Liu J; Bruel AL; Tomoum H; Shata MO; Hashem MO; Toosi MB; Ghayoor Karimiani E; Yesil G; Lingappa L; Baruah D; Ebrahimzadeh F; Van-Gils J; Faivre L; Zamani M; Galehdari H; Sadeghian S; Shariati G; Mohammad R; van der Smagt J; Qari A; Vincent JB; Innes AM; Dursun A; Özgül RK; A | 37713627 BIOLOGY |
| 5 | TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain | Munot P; McCrea N; Torelli S; Manzur A; Sewry C; Chambers D; Feng L; Ala P; Zaharieva I; Ragge N; Roper H; Marton T; Cox P; Milev MP; Liang WC; Maruyama S; Nishino I; Sacher M; Phadke R; Muntoni F; | 34648194 BIOLOGY |
| 6 | Formation of oil-particle aggregates: Impacts of mixing energy and duration | Ji W; Boufadel M; Zhao L; Robinson B; King T; An C; Zhang BH; Lee K; | 34252767 ENCS |
| 7 | TRAPPing a neurological disorder: from yeast to humans. | Lipatova Z, Van Bergen N, Stanga D, Sacher M, Christodoulou J, Segev N | 32116085 BIOLOGY |
| 8 | Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction. | Milev MP, Grout ME, Saint-Dic D, Cheng YH, Glass IA, Hale CJ, Hanna DS, Dorschner MO, Prematilake K, Shaag A, Elpeleg O, Sacher M, Doherty D, Edvardson S | 28777934 BIOLOGY |
| 9 | TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy. | Larson AA, Baker PR, Milev MP, Press CA, Sokol RJ, Cox MO, Lekostaj JK, Stence AA, Bossler AD, Mueller JM, Prematilake K, Tadjo TF, Williams CA, Sacher M, Moore SA | 29855340 BIOLOGY |
| 10 | Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. | Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri M, Stanga D, Cenacchi G, van Gassen KLI, Zschocke J, Fauth C, Mayr JA, Sacher M, van Hasselt PM | 30120216 BIOLOGY |
| 11 | TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)-associated proteins. | Sacher M, Shahrzad N, Kamel H, Milev MP | 30152084 BIOLOGY |
| Title: | Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. | ||||
| Authors: | Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri M, Stanga D, Cenacchi G, van Gassen KLI, Zschocke J, Fauth C, Mayr JA, Sacher M, van Hasselt PM | ||||
| Link: | https://www.ncbi.nlm.nih.gov/pubmed/30120216?dopt=Abstract | ||||
| DOI: | 10.1136/jmedgenet-2018-105441 | ||||
| Publication: | Journal of medical genetics | ||||
| Keywords: | RAB11; TRAPP; TRAPPC2L; membrane traffic; neurodevelopmental disorder; | ||||
| PMID: | 30120216 | Category: | J Med Genet | Date Added: | 2019-06-07 |
| Dept Affiliation: |
BIOLOGY
1 Department of Biology, Concordia University, Montreal, Quebec, Canada. 2 Medical Genetics Unit, Policlinico S. Orsola-Malpighi, University of Bologna, Bologna, Italy. 3 Clinic for Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria. 4 Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. 5 Pediatric Neurology Unit, Policlinico S. Orsola-Malpighi, University of Bologna, Bologna, Italy. 6 Institute of Human Genetics, Technische Universität München, Munich, Germany. 7 Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany. 8 IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy. 9 Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany. 10 Department of Biomedical and Neuromotor Science, Alma Mater, University of Bologna, Bologna, Italy. 11 Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. 12 Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria. 13 Department of Paediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria. 14 Department of Anatomy and Cell Biology, McGIll University, Montreal, Quebec, Canada. |
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Description: |
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. J Med Genet. 2018 Nov;55(11):753-764 Authors: Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri M, Stanga D, Cenacchi G, van Gassen KLI, Zschocke J, Fauth C, Mayr JA, Sacher M, van Hasselt PM Abstract PMID: 30120216 [PubMed - in process] |
