Results 211 to 220 of about 1,556,351 (302)

Whole-genome sequencing of 56 Yunling goats and 21 Nubian goats. [PDF]

Sci Data
Feng KJ, Wen LY, Huang ZY, Yu PX, You H, Yang M, Li CQ, Chen S.   +7 more
europepmc   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Genome sequencing of Bacillus daqingensis and Alkalicoccus luteus reveals taxonomic insights and adaptive mechanisms. [PDF]

Sci Rep
Narsing Rao MP, Wang KK, Zhu KY, Wang JL, Quadri SR, Haribabu J, Chandru HK, Wang S.   +7 more
europepmc   +1 more source

Validation of a Genetic Risk Score Combined With Clinical Variables for Predicting Pulmonary Fibrosis in Early Rheumatoid Arthritis

Arthritis Care &Research, EarlyView.
Objective Pulmonary fibrosis (PF) is a severe extra‐articular manifestation of rheumatoid arthritis (RA). This study aimed to externally validate a genetic risk score (GRS) and a combined risk score (CRS) for predicting the risk of RA‐associated PF in an independent cohort of patients with early RA.
Mikael Brink, Austin Wheeler, Bryant R. England, Solbritt Rantapää‐Dahlqvist   +3 more
wiley   +1 more source

Effects of causal beliefs about gout on public views about gout management: A randomized experimental study

Arthritis Care &Research, Accepted Article.
Objective Despite well‐described biological causes, the public views unhealthy lifestyle choices as the primary cause of gout. This study investigated how causal beliefs about gout influence the public's views about its management. Methods In a randomized study, 201 members of the public viewed one of two 2‐minute videos about gout.
Rachel Murdoch, Borislav Mihov, Anne Horne, Keith J. Petrie, Gregory D. Gamble, Lachlan Fleck, Nicola Dalbeth   +6 more
wiley   +1 more source

Unravelling the genetic architecture of cardiovascular disease through structural variant detection with whole-genome sequencing. [PDF]

Front Genet
Colombage DNP, Moses EK, Melton PE.
europepmc   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical applications, challenges, and future directions

Arthritis Care &Research, Accepted Article.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source

Are Atrial Fibrillation Risk Loci Universally Applicable? Insights from Whole-Genome Sequencing in a Polish Population. [PDF]

Med Sci (Basel)
Wasiak M, Sypniewski M, Dobosz P, Stępień M, Michalska-Foryszewska A, Rzońca P, Król ZJ.   +6 more
europepmc   +1 more source

What Do Large Language Models Know About Materials?

Advanced Engineering Materials, EarlyView.
If large language models (LLMs) are to be used inside the material discovery and engineering process, they must be benchmarked for the accurateness of intrinsic material knowledge. The current work introduces 1) a reasoning process through the processing–structure–property–performance chain and 2) a tool for benchmarking knowledge of LLMs concerning ...
Adrian Ehrenhofer, Thomas Wallmersperger, Gianaurelio Cuniberti   +2 more
wiley   +1 more source

Identification of an Elusive <i>CBFA2T3::GLIS2</i> Fusion Variant in Acute Megakaryoblastic Leukemia by Whole Genome Sequencing. [PDF]

EJHaem
Lee Y, Choi JY, Park HJ, Kim BK, Kim HK, Kim Y, Cheon JE, Park SH, Phi JH, Lee JW, Kim R, Koh JY, Kang HJ.   +12 more
europepmc   +1 more source