Results 191 to 200 of about 357,346 (356)

Considerations for Prenatal Counselling of Patients with Cardiac Rhabdomyomas based on their Cardiac and Neurologic Outcomes [PDF]

open access: yes, 2017
Cardiac rhabdomyomas are benign cardiac tumours with few cardiac complications, but with a known association to tuberous sclerosis that affects the neurologic outcome of the patients.
Barrea, Catherine   +10 more
core  

Diet and Energy-Sensing Inputs Affect TorC1-Mediated Axon Misrouting but Not TorC2-Directed Synapse Growth in a Drosophila Model of Tuberous Sclerosis

open access: gold, 2012
Brian D. Dimitroff   +8 more
openalex   +2 more sources

Pancreatic Neuroendocrine Tumor Leading to a Diagnosis of Multiple Endocrine Neoplasia Type 1

open access: yesDEN Open, Volume 6, Issue 1, April 2026.
ABSTRACT Pancreatic neuroendocrine neoplasms are rare but occasionally encountered. They are generally highly vascularized solid tumors, often round in shape with clear boundaries, defined contours, and a homogeneous internal structure. However, they can also present with atypical features, such as cystic degeneration, hemorrhage, calcification, and ...
Noriyuki Hirakawa   +9 more
wiley   +1 more source

Tuberous sclerosis

open access: yesIndian Dermatology Online Journal, 2015
Anisha George   +2 more
openaire   +6 more sources

Establishment of a human induced pluripotent stem cell (iPSC) line from a patient harboring a TSC1 gene mutation

open access: yesStem Cell Research
The tuberous sclerosis complex 1 (TSC1) gene encodes for the growth inhibitory protein, hamartin, and has been clinically implicated in tuberous sclerosis complex (TSC) and associated epilepsy.
Shiwen Weng   +4 more
doaj   +1 more source

An LC–MS/MS Method for the Quantitation of Metabolites M9, M12, and M20 of Bexicaserin in Human Cerebrospinal Fluid

open access: yesBiomedical Chromatography, Volume 40, Issue 2, February 2026.
ABSTRACT The investigational molecule bexicaserin is a highly selective 5‐HT2C superagonist currently in Phase 3 clinical studies for the treatment of seizures associated with developmental and epileptic encephalopathies (DEEs). To facilitate its clinical development, a simple LC–MS/MS method was developed and validated for the quantitative estimation ...
Raja Reddy Kallem   +5 more
wiley   +1 more source

Engineering Immortalized Bovine Granulosa Cells Using a Triple‐Gene Approach: Mutant CDK4, Cyclin D1, and TERT

open access: yesCell Biology International, Volume 50, Issue 2, February 2026.
ABSTRACT Advancing reproductive technologies in livestock is essential to improve both productivity and genetic potential of cattle. Despite this importance, application of reproductive biotechnologies in cattle breeding remains limited. Bovine granulosa cells (bGCs), which are key components of the ovarian follicle, are critical in female reproduction
Lanlan Bai   +12 more
wiley   +1 more source

WHO classification of skin tumours: key updates in the fifth edition

open access: yesHistopathology, Volume 88, Issue 3, Page 555-568, February 2026.
This review article summarizes the key updates in the 5th edition of the WHO Classification of Skin Tumours. It provides an overview of the major changes and new entities specific to the skin section, covering areas such as epidermal, melanocytic, mesenchymal and other tumours. The 5th edition of the World Health Organization Classification of Tumours (
Gabrielle Goldman‐Lévy   +29 more
wiley   +1 more source

GPNMB immunohistochemistry is a useful ancillary tool for the diagnosis of pulmonary lymphangioleiomyomatosis

open access: yesHistopathology, Volume 88, Issue 3, Page 698-709, February 2026.
We evaluated the diagnostic utility of GPNMB immunohistochemistry in LAM. GPNMB showed strong expression in LAM cells, while the differential diagnostic mimics showed no or only low expression. Based on its 100% sensitivity and specificity in our cohort, GPNMB is a highly reliable immunohistochemical marker for the diagnosis of LAM.
Fatime Szalai   +6 more
wiley   +1 more source

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