Results 181 to 190 of about 391,398 (249)

An atlas of single-cell eQTLs dissects autoimmune disease genes and identifies novel drug classes for treatment. [PDF]

Cell Genom
Wang L, Markus H, Chen D, Chen S, Zhang F, Gao S, Khunsriraksakul C, Chen F, Olsen N, Foulke G, Jiang B, Carrel L, Liu DJ.   +12 more
europepmc   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Resident and Nursing Home Factors Associated With Adherence to a Personalized Music Intervention: Secondary Analyses From Music & MEmory: A Pragmatic TRial for Nursing Home Residents With ALzheimer's Disease (METRIcAL). [PDF]

J Aging Res
Conard RA, Baier RR, Sisti A, Dionne L, McCreedy EM.   +4 more
europepmc   +1 more source

Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective [18F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatment strategy in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Greet Vanderlinden, Charles Carron, Donatienne Van Weehaeghe, Joke De Vocht, Fouke Ombelet, Pegah Masrori, Caro De Weerdt, Rebecca E. James, Lauren T. Evans, Frederick A. Schroeder, Jacob M. Hooker, Michel Koole, Janice E. Kranz, Tonya M. Gilbert, Philip Van Damme, Koen Van Laere   +15 more
wiley   +1 more source

Glycosylation Gene Signatures as Prognostic Biomarkers in Glioblastoma

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glioblastoma (GBM) is an aggressive brain tumor characterized by significant heterogeneity. This study investigates the role of glycosylation‐related genes in GBM subtyping, prognosis, and response to therapy. Methods We analyzed mRNA expression data and clinical information from The Cancer Genome Atlas (TCGA) and Gene Expression ...
Tong Zhao, Hongliang Ge, Chenchao Lin, Xiyue Wu, Jianwu Chen   +4 more
wiley   +1 more source

The effect of abamectin exposure on gametogenesis in zebrafish. [PDF]

Sci Rep
Bağdatli S, Yön Ertuğ ND.
europepmc   +1 more source

Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman, Craig Blackstone, Reza Sadjadi   +2 more
wiley   +1 more source

A high-velocity star recently ejected by an intermediate-mass black hole in M15. [PDF]

Natl Sci Rev
Huang Y, Li Q, Liu J, Dong X, Zhang H, Lu Y, Du C.   +6 more
europepmc   +1 more source

Sequence Analysis to Phenotype Health Care Patterns in Adults With Musculoskeletal Conditions Using Primary Care Electronic Health Records

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to apply sequence analysis (SA) to phenotype health care patterns of adult patients with musculoskeletal (MSK) conditions using primary care electronic health records and to investigate the association between these health care patterns and patients’ self‐reported outcomes after consultation.
Smitha Mathew, George Peat, Emma Parry, Ross Wilkie, Kelvin P. Jordan, Jonathan C. Hill, Dahai Yu   +6 more
wiley   +1 more source

Juvenile Idiopathic Arthritis, Earnings, and Work Loss: A Nationwide Matched Cohort Study

Arthritis Care &Research, EarlyView.
Objective This study compares trajectories of earnings and work loss in individuals with juvenile idiopathic arthritis (JIA) versus matched comparators from the general population. Methods Patients with JIA (n = 4,737) were identified in the Swedish National Patient Register (2001–2017) and individually matched to up to five general population ...
Heather Miller, Martin Neovius, Erik Sundberg, Johan Askling, Gustaf Bruze   +4 more
wiley   +1 more source