5,462 research outputs found
Loss of CDKN1C in a Recurrent Atypical Teratoid/Rhabdoid Tumor
No full textIntroduction. We present the case of a child with recurrent atypical teratoid/rhabdoid tumor (AT/RT) who underwent clinically integrated molecular sequencing that revealed a novel loss-of-function mutation in CDKN1C alongside hallmark loss of SMARCB1. Case Presentation. A 6-week-old African-American female presented with respiratory distress, irritability, lethargy, and bulging fontanelle. MRI revealed a right posterior fossa mass with obstructive hydrocephalus. 8 months after gross tumor resection she returned with a recurrent right frontal lobe lesion and underwent palliative subtotal resection. Deviation From the Expected. In addition to biallelic loss of SMARCB1, a mutation in CDKN1C was reported and confirmed by immunohistochemistry and whole-exome and transcriptome sequencing in AT/RT. Discussion. Alisertib, an Aurora Kinase A (AURKA) inhibitor, was chosen for our patient due to previously published efficacy of the single-agent therapy in patients with recurrent AT/RT. Conclusion. Sequencing of the recurrent AT/RT revealed a novel mutation in CDKN1C could provide AT/RT new pathways for growth in addition to loss of AURKA regulation. Literature review strengthens evidence of a central upstream regulator, LIN28B, for both CDKN1C and AURKA. Further clarification of this oncogenic pathway in AT/RT should enable the development of improved targeted therapies in this patient population and provide perspective for future cancer research and therapies. Grants. The University of Michigan PEDS-MIONCOSEQ study was supported by grant 1UM1HG006508 from the National Institutes of Health Clinical Sequencing Exploratory Research Award (PI: Arul Chinnaiyan, Co-I: Rajen Mody). Carl Koschmann is supported by NIH/NINDS grant K08-NS099427-01
Genesis Breyer P-Orridge : Sacred Intent : Conversations with Carl Abrahamsson 1986–2019
No full text"Three decades of conversations with Genesis Breyer P-Orridge, provocateur, artist, gender revolutionary and leader of the bands Throbbing Gristle, Psychic TV and more
Published for legendary artist and musician Genesis Breyer P-Orridge’s 70th birthday in 2020, Sacred Intent gathers conversations between Breyer P-Orridge and his friend and collaborator, the Swedish author Carl Abrahamsson. From the first 1986 fanzine-based interview about current projects, philosophical insights, magical workings, international travels, art theory and gender revolutions, to 2019’s thoughts on life and death in the the shadow of battling leukaemia, Sacred Intent is a unique journey in which the art of conversation blooms to the highest degree." -- Distributor's website
Letter from Herbert Babbitt to Carl Hayden
No full textLetter from Herbert Babbitt to Carl T. Hayden about grazing cattle in the park boundaries
Letter from Bernie Zachau to Carl Hayden
No full textLetter from Bernie Zachau to Carl Hayden regarding water power in the Grand Canyon
Letter from Carl Hayden to Harold Greene
No full textLetter from Carl Hayden to Harold Greene regarding the progress of the national park bill
Letter from Arthur Ringland to Carl Hayden
No full textLetter from Arthur Ringland to Carl Hayden about road alignment survey through the Buggeln ranch
Letter from Ed Hamilton to Carl Hayden
No full textLetter from Ed Hamilton to Carl Hayden requesting maintenance for the road between Grand Canyon Village and Rowe's Well
Letter from Alf Dickinson to Carl Hayden
No full textLetter from Alf Dickenson to Carl T. Hayden about securing mining permits within the park
Letter from Carl Hayden to Bernie Zachau
No full textLetter from Carl Hayden to Bernie Zachau regarding the national park bill with an enclosed copy of the National Park Service Act
Letter from Dwight Heard to Carl Hayden
No full textLetter from Dwight B. Heard, president and publisher of The Arizona Republican, to Carl T. Hayden about a visit by Stephen Mathe
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