Renal cystic disease in tuberous sclerosis complex

Prashant Kumar; Fahad Zadjali; Ying Yao; John J. Bissler

doi:10.1177/15353702211038378

Renal cystic disease in tuberous sclerosis complex

Prashant Kumar, Fahad Zadjali, Ying Yao, John J. Bissler^*

^*Corresponding author for this work

Biochemistry

Research output: Contribution to journal › Review article › peer-review

2 Citations (Scopus)

Abstract

Tuberous sclerosis complex (TSC) is associated with TSC1 or TSC2 gene mutations resulting in hyperactivation of the mTORC1 pathway. This mTORC1 activation is associated with abnormal tissue development and proliferation such that in the kidney there are both solid tumors and cystic lesions. This review summarizes recent advances in tuberous sclerosis complex nephrology and focuses on the genetics and cell biology of tuberous sclerosis complex renal disease, highlighting a role of extracellular vesicles and the innate immune system in disease pathogenesis.

Original language	English
Pages (from-to)	2111-2117
Number of pages	7
Journal	Experimental Biology and Medicine
Volume	246
Issue number	19
DOIs	https://doi.org/10.1177/15353702211038378
Publication status	Published - Oct 2021

Keywords

Tuberous sclerosis complex
cell nonautonomous trait
extracellular vesicles
renal cysts

ASJC Scopus subject areas

Biochemistry, Genetics and Molecular Biology(all)

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10.1177/15353702211038378

Cite this

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title = "Renal cystic disease in tuberous sclerosis complex",

abstract = "Tuberous sclerosis complex (TSC) is associated with TSC1 or TSC2 gene mutations resulting in hyperactivation of the mTORC1 pathway. This mTORC1 activation is associated with abnormal tissue development and proliferation such that in the kidney there are both solid tumors and cystic lesions. This review summarizes recent advances in tuberous sclerosis complex nephrology and focuses on the genetics and cell biology of tuberous sclerosis complex renal disease, highlighting a role of extracellular vesicles and the innate immune system in disease pathogenesis.",

keywords = "Tuberous sclerosis complex, cell nonautonomous trait, extracellular vesicles, renal cysts",

author = "Prashant Kumar and Fahad Zadjali and Ying Yao and Bissler, {John J.}",

note = "Funding Information: The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work was supported by the DoD grant W81XWH-14-1-0343 (JJB), Federal Express Chair of Excellence (JJB), and Children{\textquoteright}s Foundation Research Institute (JJB). Publisher Copyright: {\textcopyright} 2021 by the Society for Experimental Biology and Medicine.",

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T1 - Renal cystic disease in tuberous sclerosis complex

AU - Kumar, Prashant

AU - Zadjali, Fahad

AU - Yao, Ying

AU - Bissler, John J.

N1 - Funding Information: The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work was supported by the DoD grant W81XWH-14-1-0343 (JJB), Federal Express Chair of Excellence (JJB), and Children’s Foundation Research Institute (JJB). Publisher Copyright: © 2021 by the Society for Experimental Biology and Medicine.

PY - 2021/10

Y1 - 2021/10

N2 - Tuberous sclerosis complex (TSC) is associated with TSC1 or TSC2 gene mutations resulting in hyperactivation of the mTORC1 pathway. This mTORC1 activation is associated with abnormal tissue development and proliferation such that in the kidney there are both solid tumors and cystic lesions. This review summarizes recent advances in tuberous sclerosis complex nephrology and focuses on the genetics and cell biology of tuberous sclerosis complex renal disease, highlighting a role of extracellular vesicles and the innate immune system in disease pathogenesis.

AB - Tuberous sclerosis complex (TSC) is associated with TSC1 or TSC2 gene mutations resulting in hyperactivation of the mTORC1 pathway. This mTORC1 activation is associated with abnormal tissue development and proliferation such that in the kidney there are both solid tumors and cystic lesions. This review summarizes recent advances in tuberous sclerosis complex nephrology and focuses on the genetics and cell biology of tuberous sclerosis complex renal disease, highlighting a role of extracellular vesicles and the innate immune system in disease pathogenesis.

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KW - cell nonautonomous trait

KW - extracellular vesicles

KW - renal cysts

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Renal cystic disease in tuberous sclerosis complex

Abstract

Keywords

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