Results 111 to 120 of about 18,866 (220)

Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex–Associated Renal Cell Carcinoma

open access: yesTranslational Oncology, 2018
Tuberous sclerosis complex–associated renal cell carcinoma (TSC-RCC) has distinct clinical and histopathologic features and is considered a specific subtype of RCC. The genetic alterations of TSC1 or TSC2 are responsible for the development of TSC.
Jeong Hwan Park   +7 more
doaj   +1 more source

Building a precision therapeutics program at a tertiary care children's hospital

open access: yes
Pediatric Investigation, EarlyView.
Luke Hamilton   +8 more
wiley   +1 more source

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

open access: yesAmerican 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   +5 more
wiley   +1 more source

Aspirin-exacerbated respiratory disease is associated with variants in filaggrin, epithelial integrity, and cellular interactions

open access: yesJournal of Allergy and Clinical Immunology: Global
Background: Previous studies have determined that up to 6% of patients with aspirin-exacerbated respiratory disease (AERD) have family history of AERD, indicating a possible link with genetic polymorphisms.
Elina Jerschow, MD, MSc   +8 more
doaj   +1 more source

Serotonin 5‐HT7 receptor signaling in neuropsychiatric disorders

open access: yesBulletin 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

Regulation and function of tuberous sclerosis complex-2 tumor suppressor in renal cell carcinoma

open access: yes, 2004
textTuberous sclerosis complex - 2 (TSC2) is an important tumor suppressor gene for multiple tumors associated with human TSC disease and rodent renal cell carcinoma (RCC) development.
Liu, Yu, 1975-
core  

Deciphering Antidiabetic, Anti‐Inflammatory, and Anti‐Cholinergic Bioactivities of Withania somnifera (L) Dunal Root Extract: An In Vitro and In Silico Investigation

open access: yesChemistry &Biodiversity, Volume 23, Issue 6, June 2026.
In this investigation, Withania somnifera root ethanol extract displays anti‐inflammatory and antidiabetic properties. Though compounds including withasomniferolide B and sitoindoside IX have been previously identified as phytoconstituents in the plant, in silico analysis from this study revealed them as new lead compounds that could act as potential ...
Lufuno Mulelu   +4 more
wiley   +1 more source

Investigating Hypomyelination And Axon Guidance Defects In Tuberous Sclerosis Complex.

open access: yes, 2010
Investigating Hypomyelination And Axon Guidance Defects In Tuberous Sclerosis Complex. Hasani Baharanyi, Duyu Nie, and Mustafa Sahin, Department of Neurology, Childrens Hospital of Boston, Harvard Medical School, Boston, MA.
Baharanyi, Hasani
core  

Dissecting the roles of mTORC1 and mTORC2 in the mouse heart [PDF]

open access: yes, 2013
Mammalian target of rapamycin (mTOR) is an evolutionary conserved serine/threonine kinase that regulates cell growth and metabolism. mTOR occurs in cells in two complexes, termed mTORC1 and mTORC2.
Shende, Pankaj
core   +1 more source

Congenital pachygyria

open access: yesChinese Journal of Contemporary Neurology and Neurosurgery, 2016
Objective To investigate the imaging and clinicopathological features of pachygyria limited in the right temporo-parieto-occipital lobe and the key points of its diagnosis and treatment, in order to improve the recognition of this disease.
Jing-xia HU   +5 more
doaj  

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