Lymphangioleiomyomatosis: pathogenesis, clinical features, diagnosis, and management

C McCarthy, N Gupta, SR Johnson, JY Jane… - The Lancet …, 2021 - thelancet.com
Lymphangioleiomyomatosis (LAM) is a slowly progressive, low-grade, metastasising
neoplasm of women, characterised by infiltration of the lung parenchyma with abnormal …

Renal disease in tuberous sclerosis complex: pathogenesis and therapy

HC Lam, BJ Siroky, EP Henske - Nature Reviews Nephrology, 2018 - nature.com
Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by
hamartomatous tumours of the brain, heart, skin, lung and kidney. Patients with TSC show a …

mTORC1 upregulates B7-H3/CD276 to inhibit antitumor T cells and drive tumor immune evasion

HJ Liu, H Du, D Khabibullin, M Zarei, K Wei… - Nature …, 2023 - nature.com
Identifying the mechanisms underlying the regulation of immune checkpoint molecules and
the therapeutic impact of targeting them in cancer is critical. Here we show that high …

Midkine expression by stem-like tumor cells drives persistence to mTOR inhibition and an immune-suppressive microenvironment

Y Tang, DJ Kwiatkowski, EP Henske - Nature communications, 2022 - nature.com
Abstract mTORC1 is hyperactive in multiple cancer types,. Here, we performed integrative
analysis of single cell transcriptomic profiling, paired T cell receptor (TCR) sequencing, and …

Lymphangioleiomyomatosis

SR Johnson - Orphan lung diseases: a clinical guide to rare lung …, 2023 - Springer
Lymphangioleiomyomatosis (LAM) is a rare multisystem disease which predominantly
affects women. The disease occurs both sporadically and is common in women with …

Pulmonary manifestations in tuberous sclerosis complex

N Gupta, EP Henske - … Journal of Medical Genetics Part C …, 2018 - Wiley Online Library
Tuberous sclerosis complex has manifestations in many organ systems, including brain,
heart, kidney, skin, and lung. The primary manifestations in the lung are …

CD8+ T cell exhaustion and its regulatory mechanisms in the tumor microenvironment: key to the success of immunotherapy

B Zhang, J Liu, Y Mo, K Zhang, B Huang… - Frontiers in …, 2024 - frontiersin.org
A steady dysfunctional state caused by chronic antigen stimulation in the tumor
microenvironment (TME) is known as CD8+ T cell exhaustion. Exhausted-like CD8+ T cells …

Mast-cell tryptase release contributes to disease progression in lymphangioleiomyomatosis

R Babaei-Jadidi, A Dongre, S Miller… - American Journal of …, 2021 - atsjournals.org
Rationale: Lymphangioleiomyomatosis (LAM) is a multisystem disease that causes lung
cysts and respiratory failure. Loss of TSC (tuberous sclerosis complex) gene function results …

PD-1/PD-L1 combined with LAG3 is associated with clinical activity of immune checkpoint inhibitors in metastatic primary pulmonary lymphoepithelioma-like …

YM Zhong, K Yin, Y Chen, Z Xie, ZY Lv… - Frontiers in …, 2022 - frontiersin.org
Primary pulmonary lymphoepithelioma-like carcinoma (PLELC) is an Epstein–Barr virus
(EBV)-related, rare subtype of non-small-cell lung cancer (NSCLC). Immune checkpoint …

[HTML][HTML] IMPDH inhibitors for antitumor therapy in tuberous sclerosis complex

AJ Valvezan, MC McNamara, SK Miller, ME Torrence… - JCI insight, 2020 - ncbi.nlm.nih.gov
Recent studies in distinct preclinical tumor models have established the nucleotide
synthesis enzyme inosine-5′-monophosphate dehydrogenase (IMPDH) as a viable target …