Filters








435 Hits in 3.4 sec

Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II]

D Gareth R Evans
2009 Genetics in Medicine  
detects whole exon deletions and duplications suggests that at least 10% to 15% of NF2 constitutional aberrations are deletions ranging in size of 10 to 600 kb  ...  duplication 1 Exons 10-16 duplication 1 Exon 2 deletion 1 Exon 8 deletion 1 Table 3 3 Mutations identified in 529 families with NF2 in the Manchester (UK) genetics laboratory Type of mutation  ...  Shenton who both undertook great research on NF2 and died tragically young. Professor D.  ... 
doi:10.1097/gim.0b013e3181ac9a27 pmid:19652604 fatcat:sjsizqmzyzc7bez3nhyb4q56uu

Correlation of Nonsense and Frameshift Mutations With Severity of Retinal Abnormalities in Neurofibromatosis 2

Matthias Feucht
2008 Archives of Ophthalmology  
Conclusions: To our knowledge, this is the first genetic, clinical, and angiographic characterization of retinal abnormalities in NF2.  ...  The occurrence of epiretinal membranes and retinal microaneurysms was highly correlated, but retinal abnormalities were not significantly correlated with cataracts (present in 39 of 47 patients [83%]).  ...  Patients with uncommon types of mutations (in-frame deletions and large deletions) were excluded from the logistic regression analysis owing to insufficient data.  ... 
doi:10.1001/archopht.126.10.1376 pmid:18852415 fatcat:d45szwvqmzbvfktxupiprzv43i

Use of MRI and audiological tests in presymptomatic diagnosis of type 2 neurofibromatosis (NF2)

D G R EVANS
2000 Journal of Medical Genetics  
The authors thank Drs P Lichter and S Stilgenbauer for YACs from the 13q14 segment. The investigation was supported by the Swiss National Foundation, grant Nos 32-45604.95 and 32-37798.93.  ...  1 and described the usefulness of audiological screening in early detection of VS in NF2. 2 Although DNA diagnosis is possible by linkage analysis and by detecting the NF2 family specific mutation,  ...  the deletion extended from pter to p14.3.  ... 
doi:10.1136/jmg.37.12.944 pmid:11186935 pmcid:PMC1734490 fatcat:tqzvjm62nnfgvmprfd7dhugiwi

Loss of heterozygosity on chromosome 22q in gastrointestinal stromal tumors (GISTs): a study on 50 cases

Jerzy Lasota, Agnieszka Wozniak, Janusz Kopczynski, Agnieszka Dansonka-Mieszkowska, Bartek Wasag, Tomoko Mitsuhashi, Marrit Sarlomo-Rikala, Jeffrey R Lee, Regine Schneider-Stock, Jerzy Stachura, Janusz Limon, Markku Miettinen
2004 Laboratory Investigation  
The highest frequency of LOH was seen at D22S922 and D22S425, mapped to 22q13.33 and 22q11.22, respectively. However, LOH at other regions including IL2RB and NF2 locus was also found.  ...  No NF2 mutations were identified in four analyzed tumors.  ...  Acknowledgements We thank Dr Brian West from the Department of Pathology, New York University Medical Center, New York, NY, for the contribution of cases for this  ... 
doi:10.1038/labinvest.3700218 pmid:15580284 fatcat:enl33pwf6zh2jiwklqwlq3hsvq

Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders

C J Shaw
2004 Journal of Medical Genetics  
Results: Array-CGH detected the dosage imbalances resulting from either deletion or duplication in all the samples examined.  ...  While 80-90% or more of the rearrangements resulting in each disorder are recurrent, several non-recurrent deletions or duplications of varying sizes within proximal 17p also have been characterised using  ...  This study was supported in part by grants from the National Institute of Child Health and Human Development (PO1 HD39420) and the Mental Retardation Research Center (HD24064).  ... 
doi:10.1136/jmg.2003.012831 pmid:14757858 pmcid:PMC1735660 fatcat:sreh3dkvqnghhn2h4osi7nr45i

Localization of a putative low-penetrance ependymoma susceptibility locus to 22q11 using a chromosome 22 tiling-path genomic microarray

Anneke C. J. Ammerlaan, Cecilia de Bustos, Abdelhay Ararou, Patrick G. Buckley, Kiran K. Mantripragada, Marco J. Verstegen, Theo J. M. Hulsebos, Jan P. Dumanski
2005 Genes, Chromosomes and Cancer  
However, in 10 of these tumors, the fluorescence ratios for 22q clones scored as deleted were different from those at the single gene copy level.  ...  Further analyses revealed that these deletions were present in the constitutional DNA of these two patients as well as in some of their unaffected relatives.  ...  Hennekam and Dr. J. H. Merks for providing samples from the family members of patients 20 and 22.  ... 
doi:10.1002/gcc.20207 pmid:15880457 fatcat:5lig3bu2fbg3hik4eog7i2scsi

Genomic Landscape of High-grade Meningiomas

Wenya Bi, Noah Greenwald, Malak Abedalthagafi, Peleg Horowitz, Pankaj Agarwalla, Will Gibson, Ossama Al-Mefty, Sandro Santagata, Rameen Beroukhim, Ian Dunn
2017 Journal of Neurological Surgery. Part B: Skull Base: an interdisciplinary approach  
To determine the factors that promote the development and evolution of these tumors, we analyzed the genomes of 134 high-grade meningiomas and compared this information with data from 595 previously published  ...  In contrast to the largely stable copy number alterations, mutations were strikingly heterogeneous across tumor recurrences, likely due to extensive geographic heterogeneity in the primary tumor.  ...  ACKNOWLEDGEMENTS We are grateful to Marian Slaney and Sebastian Valentino for histopathologic assistance; the Center for Cancer Genome Discovery and Broad Institute for sequencing support; Andrew Dunford  ... 
doi:10.1055/s-0037-1600621 fatcat:l5rq5vxkoredbb2oi5dvzvyuhq

Genomic landscape of high-grade meningiomas

Wenya Linda Bi, Noah F. Greenwald, Malak Abedalthagafi, Jeremiah Wala, Will J. Gibson, Pankaj K. Agarwalla, Peleg Horowitz, Steven E. Schumacher, Ekaterina Esaulova, Yu Mei, Aaron Chevalier, Matthew A. Ducar (+9 others)
2017 npj Genomic Medicine  
To determine the factors that promote the development and evolution of these tumors, we analyzed the genomes of 134 high-grade meningiomas and compared this information with data from 595 previously published  ...  In contrast to the largely stable copy number alterations, mutations were strikingly heterogeneous across tumor recurrences, likely due to extensive geographic heterogeneity in the primary tumor.  ...  ACKNOWLEDGEMENTS We are grateful to Marian Slaney and Sebastian Valentino for histopathologic assistance; the Center for Cancer Genome Discovery and Broad Institute for sequencing support; Andrew Dunford  ... 
doi:10.1038/s41525-017-0014-7 pmid:28713588 pmcid:PMC5506858 fatcat:rns44hcxxrc53oedvss7d3sgm4

In vivo modeling of patient genetic heterogeneity identifies new ways to target cholangiocarcinoma

Nicholas T Younger, Mollie L Wilson, Anabel Martinez Lyons, Edward J. Jarman, Alison M. Meynert, Graeme R Grimes, Konstantinos Gournopanos, Scott H. Waddell, Peter A. Tennant, David H. Wilson, Rachel V. Guest, Stephen J. Wigmore (+6 others)
2022 Cancer Research  
Here we model the interactions between rare mutations with more common driver genes and combine in silico analysis of patient data with highly multiplexed in vivo CRISPR-spCas9 screens to perform a functional  ...  in vivo study into the role genetic heterogeneity plays in driving ICC.  ...  By comparing the up-and down-regulated genes in Trp53 vs Trp53;Nf2 codeleted tumours against the changes found in Nf2 vs Trp53;Nf2 co-deleted tumours, we identified enrichment in signatures for Wnt signalling  ... 
doi:10.1158/0008-5472.can-21-2556 pmid:35074757 fatcat:ohab2jlw2jcula6o6ywimusnci

Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations

Priscilla K Brastianos, Peleg M Horowitz, Sandro Santagata, Robert T Jones, Aaron McKenna, Gad Getz, Keith L Ligon, Emanuele Palescandolo, Paul Van Hummelen, Matthew D Ducar, Alina Raza, Ashwini Sunkavalli (+6 others)
2013 Nature Genetics  
The tumor suppressor NF2 is disrupted in approximately half of meningiomas 1 but the complete spectrum of genetic changes remains undefined.  ...  We confirmed focal NF2 inactivation in 43% of tumors and found alterations in epigenetic modifiers among an additional 8% of tumors.  ...  Acknowledgments The authors would like to thank Mike Lawrence, Nicolas Stransky  ... 
doi:10.1038/ng.2526 pmid:23334667 pmcid:PMC3739288 fatcat:l6nci4ho75dhrjqbhvum77gddy

Strong conservation of the human NF2 locus based on sequence comparison in five species

Caisa M. Hansson, Haider Ali, Carl E. G. Bruder, Ingegerd Fransson, Sindy Kluge, Bj�rn Andersson, Bruce A. Roe, Uwe Menzel, Jan P. Dumanski
2003 Mammalian Genome  
We identified a duplication of neurofibromin 2 in pufferfish, which resulted in two putative proteins with 74% and 76% identity to the human protein.  ...  These elements could be affected by disease-causing mutations in NF2 patients and NF2-associated tumors.  ...  Acknowledgments The authors thank Dr. Wyeth Wasserman for critical review of the manuscript. This work was supported by grants from the U.S. Army Medical Research and Material Command, award no.  ... 
doi:10.1007/s00335-003-3011-3 pmid:12925885 fatcat:gqra3gnzgzdbtjvv6s3didutk4

Clonal architecture in mesothelioma is prognostic and shapes the tumour microenvironment

Min Zhang, Jin-Li Luo, Qianqian Sun, James Harber, Alan G. Dawson, Apostolos Nakas, Sara Busacca, Annabel J. Sharkey, David Waller, Michael T. Sheaff, Cathy Richards, Peter Wells-Jordan (+22 others)
2021 Nature Communications  
Very late somatic alteration of NF2/22q occurred in one patient 12 years after surgery. Clonal architecture and evolutionary clusters dictate MPM inflammation and immune evasion.  ...  These results reveal potentially drugable evolutionary bottlenecking in MPM, and an impact of clonal architecture on shaping the immune landscape, with potential to dictate the clinical response to immune  ...  Clonal NF2 deletion was present in the cell line MED85 and this was associated with constitutive nuclear translocation of YAP, compared with MED96 which harboured wild-type NF2 (Fig. 2d) .  ... 
doi:10.1038/s41467-021-21798-w pmid:33741915 fatcat:zpc6pblivnennn62lyqnoxjwqu

Integrated genomic analyses of de novo pathways underlying atypical meningiomas

Akdes Serin Harmancı, Mark W. Youngblood, Victoria E. Clark, Süleyman Coşkun, Octavian Henegariu, Daniel Duran, E. Zeynep Erson-Omay, Leon D. Kaulen, Tong Ihn Lee, Brian J. Abraham, Matthias Simon, Boris Krischek (+15 others)
2017 Nature Communications  
These tumours harbour increased H3K27me3 signal and a hypermethylated phenotype, mainly occupying the polycomb repressive complex 2 (PRC2) binding sites in human embryonic stem cells, thereby phenocopying  ...  Here, we show that the majority of primary (de novo) atypical meningiomas display loss of NF2, which co-occurs either with genomic instability or recurrent SMARCB1 mutations.  ...  V.E.C. and M.W.Y. are supported by NIH Medical Scientist Training Program Grant T32GM007205. We gratefully acknowledge Arif O. Harmanci for constructive comments and discussions on the study.  ... 
doi:10.1038/ncomms14433 pmid:28195122 pmcid:PMC5316884 fatcat:jubteuukhfh6jk4oujfwfhbcue

Mouse Models in Meningioma Research: A Systematic Review

Julien Boetto, Matthieu Peyre, Michel Kalamarides
2021 Cancers  
We reviewed all mouse models of meningioma described in the literature, including xenograft models (orthotopic or heterotopic) with human cell lines or patient derived tumors, and genetically engineered  ...  GEMMs offer the possibility of mimicking human meningiomas at the histological, anatomical, and genetic level and have been invaluable in enabling tumorigenesis mechanisms, including initiation and progression  ...  Acknowledgments: The authors would like to thank Maxime Goudin for his assistance in illustration work and Victor Boetto for his support in the revision work.  ... 
doi:10.3390/cancers13153712 fatcat:fm4n6cyvlbebli2sz44dwoqyli

Absence of fragile X syndrome in Nova Scotia

R G BERESFORD
2000 Journal of Medical Genetics  
The deleted region extends at least from intron 1 to intron 10 of the NF2 gene, as measured by the microsatellites.  ...  The NF2 gene contains only 17 exons. 2 This method has been shown to be a very eYcient way to detect the large deletion in the NF2 gene.  ... 
doi:10.1136/jmg.37.1.77 pmid:10691418 pmcid:PMC1734446 fatcat:visvh3x7xvasxji5fk4acr34ee
« Previous Showing results 1 — 15 out of 435 results