Results 81 to 90 of about 34,649 (263)

Genetic mutation screening in an Italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients [PDF]

, 2006
To assess the prevalence of genetic mutations in nonsyndromic pheochromocytoma/paraganglioma (PHEO/PGL) patients we have performed a systematic search for mutations in the succinate dehydrogenase (SDH) B, C, and D subunits, von Hippel-Lindau (VHL), and ...
AGABITI ROSEI E, AGLIOZZO E, CAPPELLI C, CASTELLANO M, CUMETTI D, GIACCHE M, MORI L, MULATERO P, PANAROTTO A, TOSINI R, VEGLIO F   +10 more
core  

Autoimmune Encephalitis in Acute Care—Pathology, Diagnosis, and Management

Advanced Science, EarlyView.
ABSTRACT Autoimmune encephalitis (AE) is characterized by immune‐mediated inflammation of the brain parenchyma, presenting with various neurological syndromes, including but not limited to seizures, altered consciousness, neuropsychiatric symptoms, and movement disorders.
Suneesh Thilak, David Okoh, William Scotton, Shanika Samarasekera, Vikram Patil, Suresh Renukappa, Andrew Macduff, Subashini Suresh, Rajeev Krishnadas, Tonny Veenith   +9 more
wiley   +1 more source

Skin, Uterus, and Genes: When Painful Skin Lesions Tell a Familial Syndrome

Acta Médica Portuguesa
n/a.
Ivânia Soares, Inês Pereira-Amaral, Pedro de Vasconcelos, Paulo Filipe   +3 more
doaj   +1 more source

Beta catenin and cytokine pathway dysregulation in patients with manifestations of the "PTEN hamartoma tumor syndrome"

BMC Medical Genetics, 2012
Background The "PTEN hamartoma tumor syndrome" (PHTS) includes a group of syndromes caused by germline mutations within the tumor suppressor gene "phosphatase and tensin homolog deleted on chromosome ten" (PTEN), characterized by multiple polyps in the ...
Galatola Martina, Paparo Lorella, Duraturo Francesca, Turano Mimmo, Rossi Giovanni, Izzo Paola, De Rosa Marina   +6 more
doaj   +1 more source

Macrophage Extracellular Traps in Immunity and Cancer

Advanced Science, EarlyView.
As a macrophage‐mediated innate defense mechanism, the dysregulated release of METs drives chronic inflammation and influences tumor progression. Furthermore, METs exhibit a functional duality within the tumor microenvironment, capable of both promoting and suppressing tumor development.
Junyao Li, Eugenie Nepovimova, Adam Grundel, Lukas Peter, Qinghua Wu, Kamil Kuca   +5 more
wiley   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

Molecular Alterations and Association with Clinical Parameters [PDF]

, 2015
Lynch syndrome is caused by germline mutations of DNA mismatch repair (MMR) genes, most frequently MLH1 and MSH2. Recently, MMR-deficient crypt foci (MMR- DCF) have been identified as a novel lesion which occurs at high frequency in the intestinal mucosa
Benner, Axel, Bläker, Hendrik, Echterdiek, Fabian, Grabe, Niels, Kloor, Matthias, Knebel Doeberitz, Magnus von, Lahrmann, Bernd, Nelius, Nina, Schneider, Martin, Staffa, Laura, Tariverdian, Mirjam, Werft, Wiebke   +11 more
core   +1 more source

Bilirubin as a Modulator of WNK1 Protein Signaling: Implications for Neuroinflammatory Diseases

Advanced Science, EarlyView.
ABSTRACT Previously regarded merely as a potentially harmful waste product of heme catabolism, bilirubin has now emerged as a pleiotropic molecule with potent antioxidant, anti‐inflammatory, and hormone‐like properties. Recent findings have revealed protective effects against cardiovascular, metabolic, autoimmune, and neoplastic diseases, as well as ...
Sri Jayanti, Libor Vítek, Silvia Gazzin, Claudio Tiribelli   +3 more
wiley   +1 more source

Large desmoid tumors in familial adenomatous polyposis

Autopsy and Case Reports, 2018
Desmoid tumors develop from connective tissue, fasciae, and aponeuroses, and may occur in the context of familial adenomatous polyposis or may arise sporadically; also, they may be extra-abdominal, intra-abdominal, or located in the abdominal wall. These
Vítor Devezas, Laura Elisabete Barbosa, Rosa Ramalho, Cristina Sarmento, José Costa Maia   +4 more
doaj  

Exploring the interdependencies of research funders in the UK [PDF]

, 2014
Investment in medical research is vital to the continuing improvement of the UK's health and wealth. It is through research that we expand our understanding of disease and develop new treatments for patients.
Crane, P, Farrell, C, Garau, M, Grassano, N, Hernandez-Villafuerte, K, Hopkins, M M, Hutton, J, Lang, F, Mawer, A, Pateman, C, Rotolo, D, Shah, K, Sharp, T, Sussex, J   +13 more
core   +1 more source