Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Autor: Schmidts, Miriam, Hou, Yuqing, Cortés, Claudio R., Mans, Dorus A., Huber, Celine, Boldt, Karsten, Patel, Mitali, van Reeuwijk, Jeroen, Plaza, Jean-Marc, van Beersum, Sylvia E. C., Yap, Zhi Min, Letteboer, Stef J. F., Taylor, S. Paige, Herridge, Warren, Johnson, Colin A., Scambler, Peter J., Ueffing, Marius, Kayserili, Hulya, Krakow, Deborah, King, Stephen M., Beales, Philip L., Al-Gazali, Lihadh, Wicking, Carol, Cormier-Daire, Valerie, Roepman, Ronald, Mitchison, Hannah M., Witman, George B.

Publikováno v: Nature Communications
Nature Communications, 6, pp. 7074
Nature Communications, 6, 7074

The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::76af55a6ca8cc07c0aaa9b4ed7c324a0
https://pubmed.ncbi.nlm.nih.gov/27021811

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

Autor: Schmidts, Miriam, Hou, Yuqing, Cortés, Claudio R., Mans, Dorus A., Huber, Celine, Boldt, Karsten, Patel, Mitali, van Reeuwijk, Jeroen, Plaza, Jean-Marc, van Beersum, Sylvia E. C., Yap, Zhi Min, Letteboer, Stef J. F., Taylor, S. Paige, Herridge, Warren, Johnson, Colin A., Scambler, Peter J., Ueffing, Marius, Kayserili, Hulya, Krakow, Deborah, King, Stephen M.

Publikováno v: Nature Communications; Mar2016, Vol. 7 Issue 3, p11270, 1p

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Autor: Wheway G; Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK., Schmidts M; Genetics and Genomic Medicine and Birth Defects Research Centre, Institute of Child Health, University College London, London, WC1N 1EH, UK.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Pediatric Genetics Section, Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg 79112, Germany., Mans DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands., Szymanska K; Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK., Nguyen TT; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands., Racher H; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8, AB, Canada., Phelps IG; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Toedt G; Structural and Computational Biology, European Molecular Biology Laboratory, 69117 Heidelberg, Germany., Kennedy J; School of Biomolecular and Biomedical Science, University College Dublin, Dublin 4, Ireland., Wunderlich KA; Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, 55122 Mainz, Germany., Sorusch N; Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, 55122 Mainz, Germany., Abdelhamed ZA; Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK., Natarajan S; Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK., Herridge W; Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK., van Reeuwijk J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands., Horn N; Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, 72074 Tübingen, Germany., Boldt K; Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, 72074 Tübingen, Germany., Parry DA; Section of Genetics, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK., Letteboer SJF; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands., Roosing S; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, 1230 York Ave, Box 268, New York, NY 10065, USA., Adams M; BioScreening Technology Group, Biomedical Health Research Centre, St. James's University Hospital, Leeds, LS9 7TF, UK., Bell SM; BioScreening Technology Group, Biomedical Health Research Centre, St. James's University Hospital, Leeds, LS9 7TF, UK., Bond J; BioScreening Technology Group, Biomedical Health Research Centre, St. James's University Hospital, Leeds, LS9 7TF, UK., Higgins J; BioScreening Technology Group, Biomedical Health Research Centre, St. James's University Hospital, Leeds, LS9 7TF, UK., Morrison EE; BioScreening Technology Group, Biomedical Health Research Centre, St. James's University Hospital, Leeds, LS9 7TF, UK., Tomlinson DC; BioScreening Technology Group, Biomedical Health Research Centre, St. James's University Hospital, Leeds, LS9 7TF, UK., Slaats GG; Department of Nephrology and Hypertension, University Medical Centre Utrecht, Utrecht, 3584 CX, The Netherlands., van Dam TJP; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands., Huang L; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, ON, Canada., Kessler K; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Giessl A; Animal Physiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Logan CV; Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK., Boyle EA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Shendure J; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Anazi S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Aldahmesh M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Al Hazzaa S; Department of Ophthalmology, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Department of Ophthalmology, College of Medicine, Alfaisal University, Riyadh, 11533, Saudi Arabia., Hegele RA; Robarts Research Institute, University of Western Ontario, London, N6G 2V4, ON, Canada., Ober C; Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA., Frosk P; Department of Pediatrics and Child Health & Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, R3E 3P5, MB, Canada., Mhanni AA; Department of Pediatrics and Child Health & Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, R3E 3P5, MB, Canada., Chodirker BN; Department of Pediatrics and Child Health & Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, R3E 3P5, MB, Canada., Chudley AE; Department of Pediatrics and Child Health & Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, R3E 3P5, MB, Canada., Lamont R; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8, AB, Canada., Bernier FP; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8, AB, Canada., Beaulieu CL; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, ON, Canada., Gordon P; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8, AB, Canada., Pon RT; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8, AB, Canada., Donahue C; Department of Pediatrics, University of California San Francisco, San Francisco, CA 92093, USA., Barkovich AJ; Department of Radiology, University of California San Francisco, San Francisco, CA 92093, USA., Wolf L; Department of Pathology, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands., Toomes C; Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK., Thiel CT; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, ON, Canada., McKibbin M; Department of Ophthalmology, Leeds Teaching Hospitals NHS Trust, St. James's University Hospital, Leeds, LS9 7TF, UK., Inglehearn CF; Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK., Stewart F; Department of Medical Genetics, Belfast City Hospital and Queens University, Belfast, BT12 6BA, UK., Omran H; Department of Pediatrics and Adolescent Medicine, University Hospital Muenster, 48149 Muenster, Germany., Huynen MA; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands., Sergouniotis PI; Moorfields Eye Hospital NHS Foundation Trust and NIHR Ophthalmology Biomedical Research Centre, London, EC1V 2PD, UK.; UCL Institute of Ophthalmology, University College London, London, EC1V 9EL, UK., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia., Parboosingh JS; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8, AB, Canada., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8, AB, Canada., Willoughby CE; Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, Faculty of Health & Life Sciences, University of Liverpool, Liverpool, L69 3BX, UK., Giles RH; Department of Nephrology and Hypertension, University Medical Centre Utrecht, Utrecht, 3584 CX, The Netherlands., Webster AR; Moorfields Eye Hospital NHS Foundation Trust and NIHR Ophthalmology Biomedical Research Centre, London, EC1V 2PD, UK.; UCL Institute of Ophthalmology, University College London, London, EC1V 9EL, UK., Ueffing M; Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, 72074 Tübingen, Germany.; Research Unit of Protein Science, Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt, 85764 Neuherberg, Germany., Blacque O; School of Biomolecular and Biomedical Science, University College Dublin, Dublin 4, Ireland., Gleeson JG; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, 1230 York Ave, Box 268, New York, NY 10065, USA., Wolfrum U; Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, 55122 Mainz, Germany., Beales PL; Genetics and Genomic Medicine and Birth Defects Research Centre, Institute of Child Health, University College London, London, WC1N 1EH, UK., Gibson T; Structural and Computational Biology, European Molecular Biology Laboratory, 69117 Heidelberg, Germany., Doherty D; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Divisions of Developmental Medicine and Genetic Medicine, Seattle Children's Research Institute, University of Washington, Seattle, WA 98105, USA., Mitchison HM; Genetics and Genomic Medicine and Birth Defects Research Centre, Institute of Child Health, University College London, London, WC1N 1EH, UK., Roepman R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands., Johnson CA; Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

Publikováno v: Nature cell biology [Nat Cell Biol] 2015 Aug; Vol. 17 (8), pp. 1074-1087. Date of Electronic Publication: 2015 Jul 13.