Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Even...
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development
About this item
Full title
Author / Creator
Giannikou, Krinio , Malinowska, Izabela A , Pugh, Trevor J , Yan, Rachel , Tseng, Yuen-Yi , Oh, Coyin , Kim, Jaegil , Tyburczy, Magdalena E , Chekaluk, Yvonne , Liu, Yang , Alesi, Nicola , Finlay, Geraldine A , Wu, Chin-Lee , Signoretti, Sabina , Meyerson, Matthew , Getz, Gad , Boehm, Jesse S , Henske, Elizabeth P and Kwiatkowski, David J
Publisher
United States: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: Public Library of Science
Subjects
More information
Scope and Contents
Contents
Renal angiomyolipoma is a kidney tumor in the perivascular epithelioid (PEComa) family that is common in patients with Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) but occurs rarely sporadically. Though histologically benign, renal angiomyolipoma can cause life-threatening hemorrhage and kidney failure. Both angiomyolipoma an...
Alternative Titles
Full title
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development
Authors, Artists and Contributors
Author / Creator
Malinowska, Izabela A
Pugh, Trevor J
Yan, Rachel
Tseng, Yuen-Yi
Oh, Coyin
Kim, Jaegil
Tyburczy, Magdalena E
Chekaluk, Yvonne
Liu, Yang
Alesi, Nicola
Finlay, Geraldine A
Wu, Chin-Lee
Signoretti, Sabina
Meyerson, Matthew
Getz, Gad
Boehm, Jesse S
Henske, Elizabeth P
Kwiatkowski, David J
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1820285532
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1820285532
Other Identifiers
ISSN
1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1006242
