Results 161 to 170 of about 34,220 (292)

Tuberous sclerosis

Neurosciences, 2019
Alanoud, Almutairi, Khalid, Hundallah
openaire   +2 more sources

ASPSCR1: TFE3 Fusion‐Positive Epithelioid Angiomyolipoma/PEComa Lacking Melanocytic Markers: A Case Report

IJU Case Reports, Volume 9, Issue 4, July 2026.
ABSTRACT Introduction Epithelioid angiomyolipoma is a rare perivascular epithelioid cell tumor subtype with malignant potential. Its morphology mimics renal cell carcinoma, posing diagnostic challenges. Half of these cases harbor TSC1/TSC2 alterations, and a small subset features TFE3 rearrangements, mutually exclusive of TSC mutations.
Yuka Kondo, Yoji Nagashima, Kenji Zennami, Megumi Sato, Sayaka Sumiyoshi, Akihiko Sugimoto, Madoka Isomura, Kiyoshi Takahara, Sachiko Minamiguchi   +8 more
wiley   +1 more source

The phosphoproteomic landscape of the neurological manifestations in tuberous sclerosis complex. [PDF]

Acta Neuropathol
Girodengo M, Mihaylov SR, Klonowska K, Mantoan Ritter L, Flynn HR, Skehel JM, Bou Farhat E, Aronica E, White M, Kwiatkowski DJ, Ultanir SK, Bateman JM.   +11 more
europepmc   +1 more source

Tuberous Sclerosis Complex Presenting as Periungual Fibromas: A Rare Case Report and Literature Review

Ying Li,1,* Zhipeng Wang,1,* Yanhua Yang,2 Xiaoyan Xu3 1Department of Pathology, Sanya Central Hospital (The Third People’s Hospital of Hainan Province), Sanya, 572000, People’s Republic of China; 2Department of Pathology, Qingdao Municipal ...
Li Y, Yang Y, Xu X, Wang Z
core  

Novel Biomaterial‐Based Synovial Fluid Analysis Reveals Protective microRNA Signatures in a Mouse Model of Acute Synovitis‐Driven Osteoarthritis

The FASEB Journal, Volume 40, Issue 12, 30 June 2026.
We successfully established a novel method for collecting synovial fluid in the murine knee joint using Tetra‐slime. Acute synovitis led to secondary cartilage degeneration in the early stage of OA, which might be attributed to the increase of MMP‐3, TNF‐α, and M1 macrophage activation in the synovium.
Kei Takahata, Kohei Arakawa, Takashi Yasuda, Saaya Enomoto, Takuya Katashima, Takamasa Sakai, Takanori Kokubun   +6 more
wiley   +1 more source

Case Report: Individualized management of tuberous sclerosis complex-associated lymphangioleiomyomatosis. [PDF]

Front Med (Lausanne)
Wang G, Yang L, Qian S, Hu S.
europepmc   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 4, Page 257-269, June 2026.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Prenatal Detection and Neonatal Management of Tuberous Sclerosis Complex Compounded by Symptomatic Cardiac Arrhythmia. [PDF]

Case Rep Pediatr
Iram RIA, Karaki AH, Dweik H, Smerat MI.
europepmc   +1 more source

Serotonin 5‐HT7 receptor signaling in neuropsychiatric disorders

Bulletin of the Korean Chemical Society, Volume 47, Issue 6, Page 698-710, June 2026.
5‐HT7R recruits Gs, G12, and β‐arrestin signaling to regulate neuronal plasticity, circuit function, and kinase‐linked intracellular responses. This review summarizes how these pathway‐selective modules contribute to autism spectrum disorder, depression, and schizophrenia, highlighting 5‐HT7R as a pathway‐informed therapeutic target. Abstract Serotonin
Eunseo Park, Hyunah Choo
wiley   +1 more source

Surgical Repair of an Infrarenal Aortic Aneurysm in an Infant With Tuberous Sclerosis. [PDF]

Cureus
Pal A, Sirivela SS, Mallick S, Viswanathan S.   +3 more
europepmc   +1 more source