Results 81 to 90 of about 18,157 (223)

Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort Study

open access: yesFrontiers in Genetics, 2020
Tuberous sclerosis complex (TSC) is a genetic condition characterized by the occurrence of hamartomatous wounds stemming from the dysfunction of the mammalian target of rapamycin (mTOR) pathway.
Yifeng Ding   +6 more
doaj   +1 more source

TSC1/TSC2 Signaling in Pancreatic β-Cells [PDF]

open access: yesThe Open Endocrinology Journal, 2010
The Tuberous Sclerosis complex (TSC) integrates metabolic and growth signals. Recent data demonstrate that this pathway is a major player in regulation of metabolism and energy balance. In this review, we will focus on the role of TSC in modulation of -cell mass and function.
openaire   +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

Timing of mTOR activation affects tuberous sclerosis complex neuropathology in mouse models

open access: yesDisease Models & Mechanisms, 2013
SUMMARY Tuberous sclerosis complex (TSC) is a dominantly inherited disease with high penetrance and morbidity, and is caused by mutations in either of two genes, TSC1 or TSC2. Most affected individuals display severe neurological manifestations – such as
Laura Magri   +7 more
doaj   +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

A phase II study of everolimus in patients with advanced solid malignancies with TSC1, TSC2, NF1, NF2 or STK11 mutations [PDF]

open access: diamond, 2021
Siddhartha Devarakonda   +10 more
openalex   +1 more source

Blue‐Gray Papules on the Chest and Face

open access: yes
JEADV Clinical Practice, EarlyView.
Sanjana Likki   +5 more
wiley   +1 more source

NEAT1 Promotes Epileptogenesis in Tuberous Sclerosis Complex

open access: yesAdvanced Science, Volume 13, Issue 1, 5 January 2026.
The primary neurological manifestations of tuberous sclerosis complex (TSC) are intractable epilepsy and intellectual disability. NEAT1 is differentially expressed in TSC‐related epilepsy and influences neuronal excitability by regulating the PI3K/AKT/mTOR signaling pathway.
Suhui Kuang   +8 more
wiley   +1 more source

Femoral PEComa Treated With Combined Surgery and Radiotherapy: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal tumor, and primary involvement of the bone is exceptionally uncommon. In this report, a case of malignant PEComa arising from the femur in an elderly patient is described.
Yanluqi He   +4 more
wiley   +1 more source

Delayed Diagnosis of Tuberous Sclerosis Complex: A Case Report of Abdominal Distension, Pain, and Severe Anemia

open access: yesClinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT We present a case of a 31‐year‐old woman with progressive abdominal distension, bilateral loin pain, and severe anemia requiring multiple blood transfusions. She was referred for a computed tomography (CT) scan of bilateral renal masses before potential surgery.
Hamim Rusheke   +3 more
wiley   +1 more source

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