[HTML][HTML] Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal …

D Mekahli, RU Müller, M Marlais… - Nature Reviews …, 2024 - nature.com
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the
presence of proliferative lesions throughout the body. Management of TSC is challenging …

[HTML][HTML] Not all kidney cysts are created equal: a distinct renal cystogenic mechanism in tuberous sclerosis complex (TSC)

M Soleimani - Frontiers in Physiology, 2023 - frontiersin.org
Tuberous Sclerosis Complex (TSC) is an autosomal dominant genetic disease caused by
mutations in either TSC1 or TSC2 genes. Approximately, two million individuals suffer from …

[HTML][HTML] A tissue-bioengineering strategy for modeling rare human kidney diseases in vivo

JOR Hernandez, X Wang… - Nature …, 2021 - nature.com
The lack of animal models for some human diseases precludes our understanding of
disease mechanisms and our ability to test prospective therapies in vivo. Generation of …

Kidney intercalated cells and the transcription factor FOXi1 drive cystogenesis in tuberous sclerosis complex

S Barone, K Zahedi, M Brooks… - Proceedings of the …, 2021 - National Acad Sciences
Tuberous sclerosis complex (TSC) is caused by mutations in either TSC1 or TSC2 genes
and affects multiple organs, including kidney, lung, and brain. In the kidney, TSC presents …

[HTML][HTML] Renal organoid modeling of tuberous sclerosis complex reveals lesion features arise from diverse developmental processes

A Pietrobon, J Yockell-Lelievre, TA Flood, WL Stanford - Cell Reports, 2022 - cell.com
Tuberous sclerosis complex (TSC) is a multisystem tumor-forming disorder caused by loss of
TSC1 or TSC2. Renal manifestations predominately include cysts and angiomyolipomas …

[HTML][HTML] Identification of an Electrogenic 2Cl−/H+ Exchanger, ClC5, as a Chloride-Secreting Transporter Candidate in Kidney Cyst Epithelium in Tuberous Sclerosis

S Barone, M Brooks, K Zahedi, LS Holliday… - The American Journal of …, 2023 - Elsevier
Kidney cyst expansion in tuberous sclerosis complex (TSC) or polycystic kidney disease
(PKD) requires active secretion of chloride (Cl−) into the cyst lumen. In PKD, Cl− secretion is …

[HTML][HTML] Tsc2 mutation induces renal tubular cell nonautonomous disease

P Kumar, F Zadjali, Y Yao, D Johnson, B Siroky… - Genes & …, 2022 - Elsevier
TSC renal cystic disease is poorly understood and has no approved treatment. In a new
principal cell-targeted murine model of Tsc cystic disease, the renal cystic epithelium is …

Microscopic kidney disease in tuberous sclerosis complex and treatment with mTOR inhibition

J Kronick, MY Gabril, AA House - American Journal of Kidney Diseases, 2023 - Elsevier
Declining kidney function in tuberous sclerosis complex (TSC) is often attributed to large
lesions, including angiomyolipomas (AMLs) and cysts, that encroach on the normal …

[HTML][HTML] Tuberous sclerosis complex axis controls renal extracellular vesicle production and protein content

F Zadjali, P Kumar, Y Yao, D Johnson… - International Journal of …, 2020 - mdpi.com
The tuberous sclerosis complex (Tsc) proteins regulate the conserved mTORC1 growth
regulation pathway. We identified that loss of the Tsc2 gene in mouse inner medullary …

Progress in tuberous sclerosis complex renal disease

JJ Bissler, D Batchelor… - Critical Reviews™ in …, 2022 - dl.begellhouse.com
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects both fetal
development and postnatal tissue growth, resulting in altered brain structures and a tumor …