Mutations in the colony stimulating factor 1 receptor ( CSF1R ) gene cause hereditary diffuse leukoencephalopathy with spheroids
作者： Rosa Rademakers , Matt Baker , Alexandra M Nicholson , Nicola J Rutherford , NiCole Finch
DOI: 10.1038/NG.1027
关键词: Disease 、 Depression (differential diagnoses) 、 Dementia 、 Central nervous system 、 Hereditary diffuse leukoencephalopathy with spheroids 、 Parkinsonism 、 CSF1R gene 、 Cancer research 、 Biology 、 Colony stimulating factor 1 receptor
摘要: … In summary, we have shown that mutations affecting the tyrosine kinase domain of CSF1R underlie the white-matter disease HDLS, establishing HDLS as a member of the recently …
elsevier.com
nature.com
dcmsonline.org 参考文章(43)
Juha Paloneva, Marjo Kestilä, Jun Wu, Antti Salminen, Tom Böhling, Vesa Ruotsalainen, Panu Hakola, Alexander B.H. Bakker, Joseph H. Phillips, Petra Pekkarinen, Lewis L. Lanier, Tuomo Timonen, Leena Peltonen, Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. Nature Genetics. ,vol. 25, pp. 357- 361 ,(2000) , 10.1038/77153
Peter Blume-Jensen, Tony Hunter, Oncogenic kinase signalling. Nature. ,vol. 411, pp. 355- 365 ,(2001) , 10.1038/35077225
C. Wider, J. A. Van Gerpen, S. DeArmond, E. A. Shuster, D. W. Dickson, Z. K. Wszolek, Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): A single entity? Neurology. ,vol. 72, pp. 1953- 1959 ,(2009) , 10.1212/WNL.0B013E3181A826C0
T W Smith, U DeGirolami, D Hénin, F Bolgert, J-J Hauw, Human immunodeficiency virus (HIV) leukoencephalopathy and the microcirculation. Journal of Neuropathology and Experimental Neurology. ,vol. 49, pp. 357- 370 ,(1990) , 10.1097/00005072-199007000-00001
Lorna Browne, Brian J. Sweeney, Michael A. Farrell, Late-Onset Neuroaxonal Leucoencephalopathy with Spheroids and Vascular Amyloid European Neurology. ,vol. 50, pp. 85- 90 ,(2003) , 10.1159/000072504
Maria J Soares, Mafalda Pinto, Rui Henrique, Joana Vieira, Nuno Cerveira, Ana Peixoto, Ana T Martins, Jorge Oliveira, Carmen Jerónimo, Manuel R Teixeira, CSF1R copy number changes, point mutations, and RNA and protein overexpression in renal cell carcinomas Modern Pathology. ,vol. 22, pp. 744- 752 ,(2009) , 10.1038/MODPATHOL.2009.43
J. Paloneva BM, T. Autti, R. Raininko, J. Partanen, O. Salonen, M. Puranen, P. Hakola, M. Haltia, CNS manifestations of Nasu–Hakola disease A frontal dementia with bone cysts Neurology. ,vol. 56, pp. 1552- 1558 ,(2001) , 10.1212/WNL.56.11.1552
Stefanie H. Freeman, Bradley T. Hyman, Katherine B. Sims, E. T. Hedley-Whyte, Arastoo Vossough, Matthew P. Frosch, Jeremy D. Schmahmann, Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations. Brain Pathology. ,vol. 19, pp. 39- 47 ,(2009) , 10.1111/J.1750-3639.2008.00163.X
A. Sengupta, W. K. Liu, Y. G. Yeung, D. C. Yeung, A. R. Frackelton, E. R. Stanley, Identification and subcellular localization of proteins that are rapidly phosphorylated in tyrosine in response to colony-stimulating factor 1. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 85, pp. 8062- 8066 ,(1988) , 10.1073/PNAS.85.21.8062
David R Bentley, Shankar Balasubramanian, Harold P Swerdlow, Geoffrey P Smith, John Milton, Clive G Brown, Kevin P Hall, Dirk J Evers, Colin L Barnes, Helen R Bignell, Jonathan M Boutell, Jason Bryant, Richard J Carter, R Keira Cheetham, Anthony J Cox, Darren J Ellis, Michael R Flatbush, Niall A Gormley, Sean J Humphray, Leslie J Irving, Mirian S Karbelashvili, Scott M Kirk, Heng Li, Xiaohai Liu, Klaus S Maisinger, Lisa J Murray, Bojan Obradovic, Tobias Ost, Michael L Parkinson, Mark R Pratt, Isabelle MJ Rasolonjatovo, Mark T Reed, Roberto Rigatti, Chiara Rodighiero, Mark T Ross, Andrea Sabot, Subramanian V Sankar, Aylwyn Scally, Gary P Schroth, Mark E Smith, Vincent P Smith, Anastassia Spiridou, Peta E Torrance, Svilen S Tzonev, Eric H Vermaas, Klaudia Walter, Xiaolin Wu, Lu Zhang, Mohammed D Alam, Carole Anastasi, Ify C Aniebo, David MD Bailey, Iain R Bancarz, Saibal Banerjee, Selena G Barbour, Primo A Baybayan, Vincent A Benoit, Kevin F Benson, Claire Bevis, Phillip J Black, Asha Boodhun, Joe S Brennan, John A Bridgham, Rob C Brown, Andrew A Brown, Dale H Buermann, Abass A Bundu, James C Burrows, Nigel P Carter, Nestor Castillo, Maria Chiara E. Catenazzi, Simon Chang, R Neil Cooley, Natasha R Crake, Olubunmi O Dada, Konstantinos D Diakoumakos, Belen Dominguez-Fernandez, David J Earnshaw, Ugonna C Egbujor, David W Elmore, Sergey S Etchin, Mark R Ewan, Milan Fedurco, Louise J Fraser, Karin V Fuentes Fajardo, W Scott Furey, David George, Kimberley J Gietzen, Colin P Goddard, George S Golda, Philip A Granieri, David E Green, David L Gustafson, Nancy F Hansen, Kevin Harnish, Christian D Haudenschild, Narinder I Heyer, Matthew M Hims, Johnny T Ho, Adrian M Horgan, Katya Hoschler, Steve Hurwitz, Denis V Ivanov, Maria Q Johnson, Terena James, TA Huw Jones, Gyoung-Dong Kang, Tzvetana H Kerelska, Alan D Kersey, Irina Khrebtukova, Alex P Kindwall, Zoya Kingsbury, Paula I Kokko-Gonzales, Anil Kumar, Marc A Laurent, Cynthia T Lawley, Sarah E Lee, Xavier Lee, Arnold K Liao, Jennifer A Loch, Mitch Lok, Shujun Luo, Radhika M Mammen, John W Martin, Patrick G McCauley, Paul McNitt, Parul Mehta, Keith W Moon, Joe W Mullens, Taksina Newington, Zemin Ning, Bee Ling Ng, Sonia M Novo, Michael J O’Neill, Mark A Osborne, Andrew Osnowski, Omead Ostadan, Lambros L Paraschos, Lea Pickering, Andrew C Pike, Alger C Pike, D Chris Pinkard, Daniel P Pliskin, Joe Podhasky, Victor J Quijano, Come Raczy, Vicki H Rae, Stephen R Rawlings, Ana Chiva Rodriguez, Phyllida M Roe, None, Accurate whole human genome sequencing using reversible terminator chemistry Nature. ,vol. 456, pp. 53- 59 ,(2008) , 10.1038/NATURE07517