Results 211 to 220 of about 196,785 (313)

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Covalent conjugation of TLR9 agonists to phospholipids enhances mRNA-LNP delivery efficiency and dendritic cell cross-priming. [PDF]

J Nanobiotechnology
Ji W, Zhu K, Zhou Y, Yan H, Wei J, Zhu Y, Li S, Hong Y, Dai J, Dong S, Hu H, You J, Qiu Y, Lou Y.   +13 more
europepmc   +1 more source

Characterizing cytosine methylation of polymorphic transposable element insertions using the human pangenome resources. [PDF]

Genome Res
Zhuo X, Tomlinson C, Belter EA, Kuntala PK, Saintilnord WN, Jiang J, Lindsay T, Macias-Velasco JF, Fulton RS, Wang T, Human Pangenome Reference Consortium.   +10 more
europepmc   +1 more source

Do Injury, Depression, and PTSD Mediate the Relationships Between Latent Profiles of Cumulative Lifetime Violence and Chronic Pain Disability in Men?

Research in Nursing &Health, EarlyView.
ABSTRACT Knowledge of association between violence and chronic pain in men is limited by neglect of violence experiences as perpetrator, disregard of heterogeneity in cumulative lifetime violence severity (CLVS), weak understanding of mediation pathways, and inattention to social determinants of health (SDOH).
Judith Wuest, Sue O'Donnell, Kelly Scott‐Storey, Charlene D. Vincent, Jeannie Malcolm   +4 more
wiley   +1 more source

Putative Imprinting Control Regions with Aberrant Blood-Based DNA Methylation are Associated with Hepatocellular Carcinoma Risk. [PDF]

J Hepatocell Carcinoma
DiFrank AJ, Corliss BA, Park JJH, Rogers M, Skaar DA, Jima DD, Cowley M, Murphy SK, Liu A, Moylan CA, Hoyo C.   +10 more
europepmc   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

Reunião da Câmara 02/2014

, 2014
CPG
core  

Dual-adjuvant mucosal vaccine leveraging mast cell and TLR9 agonists for protection against poxvirus infection.

RSC Pharm
Murphy CT, Williamson GL, Ontiveros-Padilla L, Hendricksen AT, Johnson-Weaver BT, Choi HW, Gooden DM, Kalpathy S, Lopez AM, Pena ES, Bachelder JM, Sellers RS, Abraham SN, Staats HF, Ainslie KM.   +14 more
europepmc   +1 more source

Low Depth Epigenetic Mapping of Maturation Versus Retrodifferentiation in HepaRG Cells. [PDF]

Epigenomes
Hernandez-Vargas H, Petitjean K, Lambert MP, Daniel Y, Chemin I, Corlu A, Goldsmith C.   +6 more
europepmc   +1 more source

Prenatal Genetic Testing for Beckwith‐Wiedemann Syndrome: Considerations, Challenges and Observations (A Real‐World Study)

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal genetic testing for imprinting disorders is rarely requested with the exception of Beckwith‐Wiedemann syndrome (BWS) which is associated with specific ultrasound findings (e.g., placental mesenchymal dysplasia, omphalocele). However, genetic testing for BWS is challenging as aberrant DNA methylation has to be addressed which
Melissa Connolly, Louise McClelland, Pierpaola Tannorella, Tanja Richter, Ester Mainini, Andreas Dufke, Annette Lischka, Matthias Begemann, Katja Eggermann, Thomas Eggermann, Silvia Russo   +10 more
wiley   +1 more source