排序方式: 共有6条查询结果,搜索用时 15 毫秒
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Effect of thalidomide on human embryonic tissues 总被引:1,自引:0,他引:1
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Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids 总被引:1,自引:0,他引:1
Rademakers R Baker M Nicholson AM Rutherford NJ Finch N Soto-Ortolaza A Lash J Wider C Wojtas A DeJesus-Hernandez M Adamson J Kouri N Sundal C Shuster EA Aasly J MacKenzie J Roeber S Kretzschmar HA Boeve BF Knopman DS Petersen RC Cairns NJ Ghetti B Spina S Garbern J Tselis AC Uitti R Das P Van Gerpen JA Meschia JF Levy S Broderick DF Graff-Radford N Ross OA Miller BB Swerdlow RH Dickson DW Wszolek ZK 《Nature genetics》2012,44(2):200-205
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal-dominant central nervous system white-matter disease with variable clinical presentations, including personality and behavioral changes, dementia, depression, parkinsonism, seizures and other phenotypes. We combined genome-wide linkage analysis with exome sequencing and identified 14 different mutations affecting the tyrosine kinase domain of the colony stimulating factor 1 receptor (encoded by CSF1R) in 14 families with HDLS. In one kindred, we confirmed the de novo occurrence of the mutation. Follow-up sequencing identified an additional CSF1R mutation in an individual diagnosed with corticobasal syndrome. In vitro, CSF-1 stimulation resulted in rapid autophosphorylation of selected tyrosine residues in the kinase domain of wild-type but not mutant CSF1R, suggesting that HDLS may result from partial loss of CSF1R function. As CSF1R is a crucial mediator of microglial proliferation and differentiation in the brain, our findings suggest an important role for microglial dysfunction in HDLS pathogenesis. 相似文献
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Analysis of human transcriptomes 总被引:47,自引:0,他引:47
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Wiesner T Obenauf AC Murali R Fried I Griewank KG Ulz P Windpassinger C Wackernagel W Loy S Wolf I Viale A Lash AE Pirun M Socci ND Rütten A Palmedo G Abramson D Offit K Ott A Becker JC Cerroni L Kutzner H Bastian BC Speicher MR 《Nature genetics》2011,43(10):1018-1021
Common acquired melanocytic nevi are benign neoplasms that are composed of small, uniform melanocytes and are typically present as flat or slightly elevated pigmented lesions on the skin. We describe two families with a new autosomal dominant syndrome characterized by multiple, skin-colored, elevated melanocytic tumors. In contrast to common acquired nevi, the melanocytic neoplasms in affected family members ranged histopathologically from epithelioid nevi to atypical melanocytic proliferations that showed overlapping features with melanoma. Some affected individuals developed uveal or cutaneous melanomas. Segregating with this phenotype, we found inactivating germline mutations of BAP1, which encodes a ubiquitin carboxy-terminal hydrolase. The majority of melanocytic neoplasms lost the remaining wild-type allele of BAP1 by various somatic alterations. In addition, we found BAP1 mutations in a subset of sporadic melanocytic neoplasms showing histological similarities to the familial tumors. These findings suggest that loss of BAP1 is associated with a clinically and morphologically distinct type of melanocytic neoplasm. 相似文献
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Weir BA Woo MS Getz G Perner S Ding L Beroukhim R Lin WM Province MA Kraja A Johnson LA Shah K Sato M Thomas RK Barletta JA Borecki IB Broderick S Chang AC Chiang DY Chirieac LR Cho J Fujii Y Gazdar AF Giordano T Greulich H Hanna M Johnson BE Kris MG Lash A Lin L Lindeman N Mardis ER McPherson JD Minna JD Morgan MB Nadel M Orringer MB Osborne JR Ozenberger B Ramos AH Robinson J Roth JA Rusch V Sasaki H Shepherd F Sougnez C Spitz MR Tsao MS Twomey D Verhaak RG Weinstock GM Wheeler DA Winckler W 《Nature》2007,450(7171):893-898
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