Results 101 to 110 of about 20,510 (176)

TSC2 modulates cell adhesion and migration via integrin-α1β1

American Journal of Physiology-Lung Cellular and Molecular Physiology, 2012
Recent evidence suggests that the rare and progressive lung disease lymphangioleiomyomatosis (LAM) is metastatic in nature. Dysfunction of the tumor suppressor genes tuberous sclerosis complex (TSC), in particular mutational inactivation of TSC2, enhances both cell proliferation and migration.
Lyn M, Moir, Judith L, Black, Vera P, Krymskaya   +2 more
openaire   +3 more sources

Clinical outcomes following stereotactic MRI‐guided laser ablation in children with tuberous sclerosis complex and intractable epilepsy

Epilepsia, Volume 67, Issue 3, Page 1169-1180, March 2026.
Abstract Objective In children with tuberous sclerosis complex (TSC) and drug‐resistant epilepsy (DRE), magnetic resonance imaging–guided stereotactic laser ablation (SLA) therapy offers less‐invasive treatment compared to craniotomy and resection. Our study seeks to further expand on the long‐term outcomes in patients with TSC‐related DRE who have ...
Chelsey Ortman, Rohini Coorg, Irfan Ali, Dave Clarke, Gloria Diaz‐Medina, Kimberly Houck, Akshat Katyayan, Laura Masters, Deepankar Mohanty, Anuranjita Nayak, Michael Quach, Vijay M. Ravindra, James J. Riviello, Sonali Sen, Elaine Seto, Danielle Takacs, Cristina Trandafir, John T. Freiling, Karen Evankovich, Yingchao Yuan, Kalman A. Katlowitz, Daniel Curry, Howard L. Weiner, Anne Anderson   +23 more
wiley   +1 more source

Adult granulosa cell tumours of the testis analogous to ovarian counterparts are exceptionally rare: analysis of a multicentric series and review of the literature

Histopathology, Volume 88, Issue 4, Page 831-842, March 2026.
Assessment of twenty testicular AGCTs with two different next‐generation sequencing (NGS) panels reveals differences with ovarian AGCTs, including absence of hotspot FOXL2 variants. Aims Testicular adult granulosa cell tumours (AGCTs) are rare and show several clinical–pathological differences with their ovarian counterparts.
Costantino Ricci, Dario de Biase, Thais Maloberti, Agnese Orsatti, Thomas M Ulbright, Muhammad T Idrees, Esther Oliva, Kristine Cornejo, João Lobo, Kvetoslava Michalova, Maria Rosaria Raspollini, Sean R Williamson, Geert JLH van Leenders, Chia‐Sui Kao, Fiona Maclean, Ankur R Sangoi, Adeboye O Osunkoya, Michelangelo Fiorentino, Antonio De Leo, Giovanni Tallini, Andres Martin Acosta   +20 more
wiley   +1 more source

The Development of Methods of BLOTCHIP^®-MS for Peptidome: Small Samples in Tuberous Sclerosis

Current Issues in Molecular Biology
Mutations in TSC1 or TSC2 in axons induce tuberous sclerosis complex. Neurological manifestations mainly include epilepsy and autism spectrum disorder (ASD). ASD is the presenting symptom (25–50% of patients).
Kunio Yui, George Imataka, Kotaro Yuge, Hitomi Sasaki, Tadashi Shiohama, Kyoichi Asada, Hidehisa Tachiki   +6 more
doaj   +1 more source

[TSC2/PKD1 contiguous gene deletion syndrome].

Anales de pediatria (Barcelona, Spain : 2003), 2014
The TSC2 gene responsible for Tuberous Sclerosis, is located in chromosome 16p 13.3, adjacent to the gene for autosomal dominant polycystic kidney disease. A large deletion can involve both genes, causing the so-called TSC2/PKD1 contiguous gene syndrome (MIM#600273).
S, Llamas Velasco, A, Camacho Salas, C, Vidales Moreno, R M, Ceballos Rodríguez, F J, Murcia García, R, Simón de la Heras   +5 more
openaire   +1 more source

TSC2 Gene [PDF]

, 2020
openaire   +1 more source

TSC2 Gene Inactivation [PDF]

, 2020
openaire   +1 more source

TSC2 wt Allele [PDF]

, 2020
openaire   +1 more source

TSC2 / PKD1 contiguous gene syndrome

Nefrología (English Edition), 2017
Francisco Cammarata-Scalisi, Concha Vidales Moreno, Carmen Zara-Chirinos, Ana Bracho, Diomar Pérez   +4 more
openaire   +2 more sources

TSC2 Monoallelic Inactivation [PDF]

, 2020
openaire   +1 more source