Recent advances in the management of lymphangioleiomyomatosis [version 1; referees: 4 approved]
F1000Research, 2018 Lymphangioleiomyomatosis is a rare disorder that predominantly affects women and is characterized by progressive cystic changes in the lung, leading to gradually worsening shortness of breath and lung function impairment.
Kai-Feng Xu, Xinlun Tian, Jay H Ryu
doaj +1 more source
Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins. [PDF]
, 2015 BACKGROUND: Tuberous sclerosis complex is a multisystem genetic disease, caused by mutation in the TSC1 or TSC2 genes, associated with many features, including intellectual disability (ID).
de Vries, Petrus J +5 more
core +2 more sources
Everolimus Versus Sirolimus for Angiomyolipoma Associated with Tuberous Sclerosis Complex: A Multi-Institutional Retrospective Study in China [PDF]
, 2021 luo cong +8 more
openalex +1 more source
From mechanism to phenotype: What fits in a basket trial
Epilepsia, EarlyView.
Kette D. Valente
wiley +1 more source
Epilepsia Open, EarlyView.Abstract Objectives Infantile epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy of infantile onset. While epidemiological data from Western countries and global estimates are available, consolidated evidence on the burden of IESS in India remains limited.
Akanksha Singh +6 more
wiley +1 more source
Non-canonical functions of the tuberous sclerosis complex-Rheb signalling axis [PDF]
, 2013 The protein products of the tuberous sclerosis complex (TSC) genes, TSC1 and TSC2, form a complex, which inhibits the small G-protein, Ras homolog enriched in brain (Rheb).
Henske, Elizabeth Petri +1 more
core +1 more source
Pulmonary manifestations in tuberous sclerosis complex
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018 Tuberous sclerosis complex has manifestations in many organ systems, including brain, heart, kidney, skin, and lung. The primary manifestations in the lung are lymphangioleiomyomatosis (LAM) and multifocal micronodular pneumocyte hyperplasia (MMPH).
N. Gupta, E. Henske
semanticscholar +1 more source
Clock gene dysregulation in epilepsy: A systematic review
Epilepsia Open, EarlyView.Abstract Objective Epileptic seizures show a rhythmic pattern, being more frequent at particular times of the day (e.g., only occurring during sleep), suggesting a role of the circadian rhythm. Clock genes regulate the circadian rhythm and might be involved in the pathophysiology of epilepsy.
Guilherme Fernandes‐Campos +3 more
wiley +1 more source
Conjunctival lymphangioma in a 4-year-old girl revealed tuberous sclerosis complex
GMS Ophthalmology Cases, 2016 Background: To present a case of conjunctival lymphangioma in a girl with tuberous sclerosis complex.Methods/results: A 4-year-old girl presented with a relapsing cystic lesion of the bulbar conjunctiva in the right eye with string-of-pearl-like ...
Freiberg, Florentina Joyce +4 more
doaj +1 more source
Corticostriatal Transmission Is Selectively Enhanced in Striatonigral Neurons with Postnatal Loss of Tsc1. [PDF]
, 2018 mTORC1 is a central signaling hub that integrates intra- and extracellular signals to regulate a variety of cellular metabolic processes. Mutations in regulators of mTORC1 lead to neurodevelopmental disorders associated with autism, which is ...
Bateup, Helen S +2 more
core +2 more sources