Results 221 to 230 of about 11,144,186 (305)

Integrating machine learning and GWAS for variant prioritization in the INCIPE cohort highlights ABC transporter genes in chronic kidney disease. [PDF]

Front Genet
Dramane D, Treccani M, Veschetti L, Koffi NBS, Patuzzo C, Ferraro PM, Gambaro G, Noel DD, Malerba G.   +8 more
europepmc   +1 more source

Development of a Disease Activity Index for the Assessment of VEXAS Syndrome (VEXAS‐DAI)

Arthritis Care &Research, EarlyView.
Objective Vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (VEXAS) syndrome is characterized by a complex spectrum of inflammatory and hematologic manifestations. Clinical research to identify effective therapies is urgently needed but is hindered by the lack of validated outcome measures.
Kevin Byram, Heřman Mann, Danielle Hammond, Onima Chowdhury, Sinisa Savic, Yohei Kirino, Carmelo Gurnari, Maël Heiblig, Thibault Comont, Arsène Mekinian, Mrinal M. Patnaik, Lachelle D. Weeks, Gary Ho, Adam Al‐Hakim, Scott Goldberg, Marcela A. Ferrada, Sophie Georgin‐Lavialle, Peter C. Grayson, Emma M. Groarke, Bhavisha Patel, Megan Sullivan, Sarah A. Buckley, Bryan G. Harder, Raman Garcha, David B. Beck, Matthew J. Koster   +25 more
wiley   +1 more source

Case Report: Deep intronic <i>PHEX</i> variant causing aberrant splicing identified by whole genome and targeted RNA sequencing in X-linked hypophosphatemia. [PDF]

Front Endocrinol (Lausanne)
Spranger S, Faust H, Duffek P, Schubert S, Skladny H, Kovacs P, Tönjes A, Popp D.   +7 more
europepmc   +1 more source

Longitudinal Changes in Adiposity After a Youth Sport‐Related Knee Injury: Informing Posttraumatic Osteoarthritis Prevention

Arthritis Care &Research, EarlyView.
Objective Youth who experience a sport‐related knee injury have elevated odds of becoming overweight or developing obesity in 3 to 10 years, compounding their risk for posttraumatic osteoarthritis (PTOA). To inform prevention strategies, this study compared patterns of adiposity change between youth with a sport‐related knee injury and uninjured youth ...
Justin M. Losciale, Nuria E. J. Jansen, Christina Y. Le, Leo Lu, Hui Xie, Marienke van Middelkoop, Jackie L. Whittaker   +6 more
wiley   +1 more source

Chromosome X-wide association study in multiple system atrophy identifies sex-differential risk loci. [PDF]

Brain
Ray A, Chia R, Rasheed M, Bayram E, International MSA Genomics Consortium , Dickson DW, Traynor BJ, Gibbs JR, Dalgard CL, Ross OA, Houlden H, Scholz SW.   +11 more
europepmc   +1 more source

Clinician and Patient Factors Associated With Long‐Term Glucocorticoid Use in People With Rheumatoid Arthritis Receiving Advanced Therapies

Arthritis Care &Research, EarlyView.
Objective Despite guideline recommendations, long‐term glucocorticoid (GC) use is common in rheumatoid arthritis (RA). We conducted a clinician survey nested within a large registry to identify patient and clinician factors associated with GC use. Methods Clinicians contributing patients to the CorEvitas Rheumatoid Arthritis Registry were surveyed ...
Michael D. George, George Reed, Matthew D. Kearney, Peter F. Cronholm, Kevin Kane, Jeffrey R. Curtis, Dimitrios A. Pappas, Joel M. Kremer   +7 more
wiley   +1 more source

Fabry Disease Diagnosed With Lung Nodule: A Unique Presentation in a Young Female Patient. [PDF]

Cureus
Joppich J, Mehta S, Mandavilli N, Rojas Alvarez F, Mehta V.   +4 more
europepmc   +1 more source

Extending Service Beyond Active Duty: Generalizability of Rheumatoid Arthritis Research Conducted Among U.S. Veterans

Arthritis Care &Research, Accepted Article.
Biomedical research involving United States Veterans continues to advance healthcare beyond the Veterans Health Administration. This is particularly true in rheumatoid arthritis (RA), where Veteran‐centric research has uncovered novel insights into pathogenesis, risk factors, and disease manifestations, informing clinical care and research across both ...
Austin M. Wheeler, Joshua F. Baker, Jennifer L. Barton, Maria I. Danila, Tate M. Johnson, Kamini Kuchinad, Kaleb Michaud, Amir A. Razmjou, J. Steuart Richards, Namrata Singh, Isaac D. Smith, Katherine D. Wysham, Grant W. Cannon, Bryant R. England, Amy Joseph, Deana Lazaro, Katherine P. Liao, Courtney Loecker, Andreas Reimold, Beth I. Wallace, Ted R. Mikuls   +20 more
wiley   +1 more source

X-chromosomal genetic variants and haplotype analysis in male cerebral palsy patients: insights into genetic susceptibility and sex-specific risk. [PDF]

J Neurodev Disord
Su Y, Wang Y, Cheng Y, Xu Y, Qiao Y, Xia L, Song J, Li Y, Zhang J, Sun H, Wang X, Zhu C, Xing Q.   +12 more
europepmc   +1 more source

Is an Apple an Orange? A Large Language Model Benchmark for Candidate Term Extraction and Subclass Decisions Against Upper Ontologies in Engineering and Materials Science

Advanced Engineering Materials, EarlyView.
Building machine‐readable vocabularies for materials science is slow, expert‐driven work. This study benchmarks 13 large language models on two of its first steps: finding candidate terms in engineering articles and deciding where they belong in a class hierarchy.
Thomas Bjarsch, Maximilian Holland, Klaus Drechsler, Johannes Schilp   +3 more
wiley   +1 more source