Results 1 to 10 of about 1,156,853 (299)

Clinical variants of limbic encephalitis [PDF]

SAGE Open Medical Case Reports, 2019
The clinical picture of immunomediator disorders of the central nervous system resulting from autoimmune or paraneoplastic processes is often represented by the limbic symptom complex or limbic encephalitis. The article gives a brief description of these
Haggai Schermann, Irina Victorovna Ponomareva, Vasily Gennadievich Maltsev, Konstantin Borisovich Yakushev, Mikhail Aizikovich Sherman   +4 more
doaj   +5 more sources

Psoriasis: Prevalence, Clinical Variants and Quality of Life, Among Patients Attending the Skin Clinic at Mbarara Regional Referral Hospital, Uganda [PDF]

Psoriasis: Targets and Therapy
Hayidar Lubwama,1 Grace Kitunzi Mulyowa,1 Stephen Kizito Mirembe,1 Tumuhairwe Julian Katungi,1 Musa Male2 1Department of Dermatology, Mbarara Regional Hospital, Mbarara University of Science and Technology, Mbarara, Uganda; 2Department of Urology, Tongji
Lubwama H, Mulyowa GK, Mirembe SK, Katungi TJ, Male M   +4 more
doaj   +2 more sources

Clinical Spectrum of Corneal Epithelial Microsporidiosis [PDF]

Journal of Clinical and Diagnostic Research, 2021
This case series aims to highlight three different clinical variants of microbiologically proven epithelial microsporidiosis, and their customised management wherein the current series, patients with suspected epithelial microsporidiosis were subjected ...
Prabhakar Singh, Abhishek Gupta, Richa Gupta   +2 more
doaj   +1 more source

Evolutionary analysis of endogenous intronic retroviruses in primates reveals an enrichment in transcription binding sites associated with key regulatory processes [PDF]

PeerJ, 2022
Background Endogenous retroviruses (ERVs) are the result of the integration of retroviruses into host DNA following germline infection. Endogenous retroviruses are made up of three main genes: gag, pol, and env, each of which encodes viral proteins that ...
Melissa Calero-Layana, Carmen López-Cruz, Agustín Ocaña, Eduardo Tejera, Vinicio Armijos-Jaramillo   +4 more
doaj   +2 more sources

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes [PDF]

, 2020
Background: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification.
Abou Tayoun, Ackerman, Ackerman, Amendola, Bennett, Blekhman, Bombard, Campuzano, Chen, David, Denham, Dunn, Eilbeck, El Mecky, Harrison, Kobayashi, Lek, Macklin, Moreno, Priori, Richards, Richards, Semsarian, Smith, Tsai, Vears, Walsh, Wordsworth   +27 more
core   +1 more source

Clinical application of high throughput molecular screening techniques for pharmacogenomics. [PDF]

, 2011
Genetic analysis is one of the fastest-growing areas of clinical diagnostics. Fortunately, as our knowledge of clinically relevant genetic variants rapidly expands, so does our ability to detect these variants in patient samples.
Schrijver, Iris, Wiita, Arun P
core   +1 more source

Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity [PDF]

, 2019
The BARD1 protein, which heterodimerizes with BRCA1, is encoded by a known breast cancer susceptibility gene. While several BARD1 variants have been identified as pathogenic, many more missense variants exist that do not occur frequently enough to assign
Adamovich, Aleksandra I, Banerjee, Tapahsama, Chen, Feng, Ding, Li, Duncan, Kathryn, Huang, Kuan-lin, Lee, Cindy, Ning, Jie, Parvin, Jeffrey D, Rodrigues, Fernanda Martins, Wingo, Margaret   +10 more
core   +3 more sources

Molecular Analysis of Prothrombotic Gene Variants in Venous Thrombosis: A Potential Role for Sex and Thrombotic Localization [PDF]

, 2020
Background: Requests to test for thrombophilia in the clinical context are often not evidence-based. Aim: To define the role of a series of prothrombotic gene variants in a large population of patients with different venous thromboembolic diseases ...
AMATO, FELICE, BRUZZESE, DARIO, CASTALDO, GIUSEPPE, CERNERA, Gustavo, COMEGNA, Marika, DI LULLO, ANTONELLA MIRIAM, DI MINNO, ALESSANDRO, ELCE, AUSILIA, LIGUORI, RENATO, ZARRILLI, FEDERICA   +9 more
core   +1 more source

Acetylated histone variant H2A.Z is involved in the activation of neo-enhancers in prostate cancer

Nature Communications, 2017
Acetylation of the histone variant H2A.Z at gene promoters is associated with oncogene activation; however, it is unclear if such modification has a role in regulating the function of enhancers.
Fátima Valdés-Mora, Cathryn M. Gould, Yolanda Colino-Sanguino, Wenjia Qu, Jenny Z. Song, Kylie M. Taylor, Fabian A. Buske, Aaron L. Statham, Shalima S. Nair, Nicola J. Armstrong, James G. Kench, Kenneth M. L. Lee, Lisa G. Horvath, Minru Qiu, Alexei Ilinykh, Nicole S. Yeo-Teh, David Gallego-Ortega, Clare Stirzaker, Susan J. Clark   +18 more
doaj   +1 more source

Inflammatory Myopathies with Cutaneous Involvement: from Diagnosis to Therapy

Folia Medica, 2017
The group of idiopathic inflammatory myopathies (IIM) include various disorders of skeletal muscles with or without skin involvement. The most common types are dermatomyositis (DM), polymyositis (PM), inclusion body myositis (IBM) and necrotizing ...
Dourmishev Lyubomir A.
doaj   +1 more source