Results 131 to 140 of about 29,392 (272)

Neuro-ophthalmological manifestations of tuberous sclerosis: current perspectives

, 2019
Tuberous sclerosis complex (TSC) is a complex, multi-system disorder with a well-described underlying genetic etiology. While retinal findings are common in TSC and important in establishing the diagnosis, TSC also has many potential neuro-ophthalmology ...
Lo Chan, Ka, Wan, Michael J, Jastrzembski, Benjamin G, Ali, Asim   +3 more
core   +1 more source

Non‐canonical PKG1 regulation in cardiovascular health and disease

British Journal of Pharmacology, EarlyView.
It is well established that the cyclic GMP‐dependent protein kinase I (PKG1) is canonically activated by cyclic guanosine monophosphate (cGMP), enabling its regulation of vascular tone, cardiac function and smooth muscle homeostasis. However, diverse non‐canonical stimuli of PKG1 have also been identified.
Jie Su, Joseph Robert Burgoyne
wiley   +1 more source

Is there a role for cannabidiol in obesity, metabolic syndrome and binge eating?

British Journal of Pharmacology, EarlyView.
Cannabidiol (CBD) is one of the most abundant phytocannabinoids isolated from the Cannabis sativa plant. CBD is a lipophilic, non‐intoxicating substance that differently from Δ9‐tetrahydrocannabinol (Δ9‐THC) does not present the typical profile of a drug of abuse.
Luca Botticelli, Emanuela Micioni Di Bonaventura, Giacomo Einaudi, Gustavo Provensi, Alessia Costa, Claudio D'Addario, Carlo Cifani, Maria Vittoria Micioni Di Bonaventura   +7 more
wiley   +1 more source

Molecular Genetic Basis of Tuberous Sclerosis Complex: From Bench to Bedside

, 2004
Tuberous sclerosis complex is an autosomal dominant disease of benign tumors occurring in multiple organ systems of the body. Either of two genes, TSC1 or TSC2, can be mutated, resulting in the tuberous sclerosis complex phenotype.
Kit-Sing Au, Michael J. Gambello, Aimee T. Williams, Hope Northrup   +3 more
core   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, EarlyView.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Tuberous Sclerosis Complex Presenting as Periungual Fibromas: A Rare Case Report and Literature Review

Ying Li,1,* Zhipeng Wang,1,* Yanhua Yang,2 Xiaoyan Xu3 1Department of Pathology, Sanya Central Hospital (The Third People’s Hospital of Hainan Province), Sanya, 572000, People’s Republic of China; 2Department of Pathology, Qingdao Municipal ...
Li Y, Yang Y, Xu X, Wang Z
core  

Screening for brain‐related comorbidities in Duchenne muscular dystrophy: Construction, reliability, and validity of the BIND screener

Developmental Medicine &Child Neurology, EarlyView.
The Brain Involvement iN Dystrophinopathies (BIND) screener is an 18‐item questionnaire with strong reliability and validity for identifying potential brain‐related comorbidities in Duchenne muscular dystrophy. It allows rapid, cross‐age and cross‐country screening for both clinical and research purposes, demonstrating good sensitivity and specificity.
Ruben Miranda, Pien M. M. Weerkamp, Anna Kolesnik, Chloe Geagan, Daniela Chieffo, Mariana Suárez‐Bagnasco, David Skuse, Elizabeth Vroom, Erik H. Niks, John Vissing, Isabelle Desguerre, Volker Straub, Francesco Muntoni, Eugenio Mercuri, Jos G. M. Hendriksen, on behalf of BIND Consortium, Nathalie Angeard, Dimitrios Athanasiou, Suzie‐Ann Bakker, Nathalie Boddaert, Ellie Drummond, Chloe Durrlemann, Fernanda Fortunato, Luis Miguel García‐Moreno, Mattia Gervasi, Rosanne Govaart, Irina Guliaeva, Catherine Hankinson, Leslie Hemar, Rebecca Hendel, Hermien Kan, Leevi Kerkela, Gregory Landon, Monika Malinova, William Mandy, Federica Moriconi, Monia Pellizzari, Sarah Poncet, Elvina Sakellariou, Sergiu Siminiuc, Anna Würgler Slipsager, Lily Smythe, Pietro Spitali, Mads Peter Godtfeldt Stemmerik, Asmus Vogel, Jeanne Wolstencroft, Camilla Zanetti   +46 more
wiley   +1 more source

A 24-year-Old woman with recurrent pneumothoraces

Respiratory Medicine Case Reports
Lymphangioleiomyomatosis (LAM) is an abnormal proliferation of smooth muscle-like cells and may occur sporadically or in association with tuberous sclerosis complex.
Daniel J. Greenberg, Anuraag Sah, Amit Chopra, Nagendra Madisi   +3 more
doaj   +1 more source

Double‐chambered left ventricle in a pediatric patient with tuberous sclerosis complex: A case report [PDF]

Pediatr Investig
Pediatric Investigation, Volume 10, Issue 3, Page 284-287, June 2026.
Li H, Xie Y, Wu Q, Duan X, Wang F, Zhang X, Wang J.   +6 more
europepmc   +2 more sources

Cognitive Impairment in Tuberous Sclerosis Complex

, 2008
Seizure histories, EEG recordings and intelligence equivalents and their relation to tuber/brain proportion (TBP) measured by 3 dimensional MRI were evaluated in 61 patients with tuberous sclerosis complex (TSC), in a study at University Medical Center ...
J Gordon Millichap
core   +1 more source