Results 111 to 120 of about 5,403,298 (185)

Pan‐Cancer Analysis of the Immunomodulatory Roles and Prognostic Value of PDXP and Experimental Verification in SKCM

Cancer Medicine, Volume 15, Issue 10, October 2026.
ABSTRACT Multiple public databases, including TCGA, GEO, and TARGET, were utilized to comprehensively analyze pyridoxal phosphatase (PDXP) expression profiles across 34 cancer types. We further explored the associations of PDXP expression with clinicopathological features, tumor immune microenvironment, genomic heterogeneity, functional signaling ...
Yingjian Hu, Xinzhu Zeng, Wei Cao, Jianhao Jiao, Yuan Zhao, Jun Wang   +5 more
wiley   +1 more source

The importance of imaging in tuberous sclerosis complex (tsc) in children: Two cases. [PDF]

Radiol Case Rep, 2022
Dedushi K, Hyseni F, Musa J, Saliaj K, Vokshi V, Guy A, Bhatti A, Tahir M, Shatri J, Dervishi B, Shabani K, Shatri M.   +11 more
europepmc   +1 more source

TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review

Genetics and Molecular Biology
Tuberous sclerosis complex is an autosomal dominant disorder characterized by skin manifestations and formation of multiple tumors in different organs, mainly in the central nervous system. Tuberous sclerosis is caused by the mutation of one of two tumor
Clévia Rosset, Cristina Brinckmann Oliveira Netto, Patricia Ashton-Prolla   +2 more
doaj   +1 more source

A population-based study to estimate survival and standardized mortality of tuberous sclerosis complex (TSC) in Taiwan. [PDF]

Orphanet J Rare Dis, 2021
Peng JH, Tu HP, Hong CH.
europepmc   +1 more source

Cognitive Impairment in Tuberous Sclerosis Complex

, 2008
Seizure histories, EEG recordings and intelligence equivalents and their relation to tuber/brain proportion (TBP) measured by 3 dimensional MRI were evaluated in 61 patients with tuberous sclerosis complex (TSC), in a study at University Medical Center ...
J Gordon Millichap
core   +1 more source

Quality of life and its predictors in adults with tuberous sclerosis complex (TSC): a multicentre cohort study from Germany. [PDF]

Neurol Res Pract, 2021
Zöllner JP, Conradi N, Sauter M, Knuf M, Knake S, Kurlemann G, Mayer T, Hertzberg C, Bertsche A, Immisch I, Klein KM, Marquard K, Meyer S, Noda AH, von Podewils F, Schäfer H, Thiels C, Zukunft B, Schubert-Bast S, Grau J, Willems LM, Rosenow F, Reese JP, Strzelczyk A.   +23 more
europepmc   +1 more source

TUBEROUS SCLEROSIS COMPLEX

Revista Ciencias Biomédicas, 2015
Introduction: tuberous sclerosis complex (TSC) is a neurocutaneous syndrome autosomal dominant (AD), characterized by multiple hamartomas formation due to mutation of the TSC1 and TSC2 genes responsible for encoding tumor suppressor proteins.
Barboza-Ubarnes Miriam, Fortich-González Rossana, Gómez-Kleebauer Carlos   +2 more
doaj  

Tuberous Sclerosis Complex (TSC) Inactivation Increases Neuronal Network Activity by Enhancing Ca²⁺ Influx via L-Type Ca²⁺ Channels. [PDF]

J Neurosci, 2021
Hisatsune C, Shimada T, Miyamoto A, Lee A, Yamagata K.   +4 more
europepmc   +1 more source

Mechanistic strategies for secondary prevention of developmental and epileptic encephalopathy in children with tuberous sclerosis complex

EBioMedicine
Summary: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by pathogenic variants in TSC1 or TSC2, leading to mTOR pathway dysregulation and a spectrum of systemic and neurological manifestations.
Nicola Specchio, Valentina Di Micco, Mirte Scheper, Eleonora Aronica, Paolo Curatolo   +4 more
doaj   +1 more source

The Development and Current Status in the Diagnosis and Management of Tuberous Sclerosis Complex Associated with Renal Angiomyolipoma in China

罕见病研究
Tuberous sclerosis complex(TSC) is a rare autosomal dominant genetic disorder caused by mutations in the TSC1 or TSC2 genes. The disease can cause multiple organ lesions. The most common renal lesions are renal angiomyolipoma(RAML).
WANG Wenda, ZHANG Yushi
doaj   +1 more source