专题：Tuberous Sclerosis Complex Research

This cluster of papers focuses on Tuberous Sclerosis Complex (TSC) and related disorders, including Lymphangioleiomyomatosis and Angiomyolipoma. It covers various aspects such as genetic mutations, neurological manifestations, use of mTOR inhibitors, diagnostic criteria, and the role of hamartin and tuberin proteins. Additionally, it explores the association with epilepsy and cognitive impairment.
最新文献
Methodological pitfalls in MRI-based quantification of post-biopsy perirenal hematomas

article Full Text OpenAlex

Lactylation fuels nucleotide biosynthesis and facilitates deuterium metabolic imaging of tumor proliferation in preclinical models of H3K27M-mutant gliomas

article Full Text OpenAlex

Fatal Pericarditis and Cardiac Tamponade During Selumetinib Treatment for Pericardial Neurofibroma

article Full Text OpenAlex

Multiparametric Ultrasound Findings of Testicular Sarcoidosis

article Full Text OpenAlex

Case Report: mTOR inhibitor treatment for epithelioid angiomyolipoma harboring biallelic TSC2 mutations

article Full Text OpenAlex

Iron-Rim Lesions in the Optic Chiasm in Multiple Sclerosis

article Full Text OpenAlex

Hearing loss in Langerhans cell histiocytosis: close association with central nervous system consequences

article Full Text OpenAlex

An integrated, scaled approach to resolve TSC2 variants of uncertain significance

article Full Text OpenAlex

Real-world detection of paramagnetic rim lesions and their association with disease burden in multiple sclerosis

article Full Text OpenAlex

Magnetic resonance-based quantification of post-renal biopsy perirenal hematomas volumes

article Full Text OpenAlex

近5年高被引文献
Lung-selective mRNA delivery of synthetic lipid nanoparticles for the treatment of pulmonary lymphangioleiomyomatosis

article Full Text OpenAlex 451 FWCI49.5426

Amplification of human interneuron progenitors promotes brain tumors and neurological defects

article Full Text OpenAlex 150 FWCI17.3552

Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy

review Full Text OpenAlex 104 FWCI11.5599

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

article Full Text OpenAlex 104 FWCI24.2947

GPNMB expression identifies TSC1/2/mTOR‐associated and MiT family translocation‐driven renal neoplasms

article Full Text OpenAlex 95 FWCI12.9229

Perfect match: mTOR inhibitors and tuberous sclerosis complex

review Full Text OpenAlex 79 FWCI9.3187

Enhancer of zeste homolog 2 promotes renal fibrosis after acute kidney injury by inducing epithelial-mesenchymal transition and activation of M2 macrophage polarization

article Full Text OpenAlex 66 FWCI11.7481

Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy

review Full Text OpenAlex 63 FWCI11.2141

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

article Full Text OpenAlex 59 FWCI5.8612

Successful management of an arteriovenous malformation with trametinib in a patient with capillary‐malformation arteriovenous malformation syndrome and cardiac compromise

article Full Text OpenAlex 57 FWCI12.2055