Results 51 to 60 of about 43,008 (246)
Asian Journal of Medical Sciences, 2015 Tuberous sclerosis complex is rare neurocutaneous syndrome involving central nervous system and lesions in skin. Tuberous sclerosis with multifocal angiomyolipoma involving kidney and lymph nodes is even rarer.
Prasad Mylarappa
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Yes-associated protein (YAP) in pancreatic cancer: at the epicenter of a targetable signaling network associated with patient survival. [PDF]
, 2018 Pancreatic ductal adenocarcinoma (PDAC) is generally a fatal disease with no efficacious treatment modalities. Elucidation of signaling mechanisms that will lead to the identification of novel targets for therapy and chemoprevention is urgently needed ...
Eibl, Guido +2 more
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Lymphangioleiomyomatosis and Tuberous Sclerosis Complex
Lung, 2008 Lymphangioleiomyomatosis (LAM) is a rare multisystemic disease of women of child-bearing age and affects mainly the lungs, promoting cystic destruction of lung parenchyma or leading to abdominal tumor formation (e.g., angiomyolipomas, lymphangioleiomyomas). LAM can arise sporadically or in association with tuberous sclerosis complex (TSC), an autosomal
Chorianopoulos, Dimitrios +1 more
openaire +3 more sources
Serotonin 5‐HT7 receptor signaling in neuropsychiatric disorders
Bulletin of the Korean Chemical Society, EarlyView.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
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A child with tuberous sclerosis having Novel NRAS gene mutation
Journal of Family Medicine and Primary CareTuberous sclerosis (TS) is a rare genetic disorder of autosomal-dominant inheritance. Mutations on either of the two genes Tuberous Sclerosis Complex 1 (TSC1) or Tuberous Sclerosis Complex 2 (TSC2) will lead to hamartomas formation involving many organs,
P. N. Liveinai +4 more
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Oman Medical Journal, 2023 Distal renal tubular acidosis (RTA) is a common cause of renal stones and nephrocalcinosis in children. Distal RTA can be either acquired or congenital because of a genetic defect.
Anwar Al Omairi, Amna Al Futaisi
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Epitheloid Variant of Angiomyolipoma in a Patient with Tuberous Sclerosis. [PDF]
, 2013 Epitheloid angiomyolipoma of kidney is a type of Perivascular endothelial cell derived tumor with an aggressive behaviour with specific pathological, immunohistochemistrical and genetic characteristics.
Amirtham, U +4 more
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Topical Rapamycin Therapy to Alleviate the Cutaneous Manifestations of Tuberous Sclerosis Complex [PDF]
, 2012 Background and Objectives: Facial angiofibromas are disfiguring facial lesions, present in up to 80% of patients with tuberous sclerosis complex. Recent elucidation of the complex cell signaling pathways that are disrupted in tuberous sclerosis indicates
Hebert, Adelaide A. +6 more
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Neonatal Seizures in Tuberous Sclerosis Complex: A Case Series
Annals of the Child Neurology Society, EarlyView.ABSTRACT Background Epilepsy affects up to 90% of patients with tuberous sclerosis complex (TSC); earlier seizure onset is associated with worse neurocognitive outcomes. The incidence of neonatal seizures in TSC is unknown, although in a recent multicenter trial 23% of infants with TSC were excluded prior to randomization because of pre‐existing ...
Kristina Jülich, Kristen Arredondo
wiley +1 more source
Unusual adult-onset cardiac rhabdomyomas in tuberous sclerosis complex: a case report
Frontiers in MedicineBackgroundTuberous sclerosis complex is a genetic neurocutaneous autosomal dominant syndrome, characterized by the development of multiple benign tumors (hamartomas) affecting various systems.
H. A. Nati-Castillo +5 more
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